Showing papers in "Case Reports in Oncology in 2021"
TL;DR: The case of a 40-year-old Mexican woman with giant mammary tumor who underwent a right total mastectomy was reported in this article, where pathology results showed a benign phyllodes tumor 4,857 g in weight and 40.2 × 36.3 × 15 cm in size.
Abstract: Phyllodes tumor of the breast is an infrequently encountered fibroepithelial neoplasm, which accounts for 0.3-1% of all tumors. Few case reports have described the occurrence of giant phyllodes tumor. To our knowledge, about 20% of phyllodes tumors would be considered giant benign. Complete surgical excision is the standard of care for giant benign phyllodes tumors; axillary lymph node metastasis is rare, and dissection should be limited to patients with pathologic evidence of tumor in the lymph nodes. We report the case of a 40-year-old Mexican woman with giant mammary tumor who underwent a right total mastectomy. The pathology results showed a benign phyllodes tumor 4,857 g in weight and 40.2 × 36.3 × 15 cm in size. We do not suggest adjuvant radiation therapy for patients with benign phyllodes tumors that are widely excised. A review of the pertinent literature was performed.
12 citations
TL;DR: In this paper, a case of a SMARCA4-deficient thoracic sarcoma in a 41-year-old male with a smoking history was presented with an upper anterior mediastinal mass.
Abstract: SMARCA4-deficient thoracic sarcoma is a newly described entity of thoracic sarcomas with a poor prognosis, defined by poorly differentiated epithelioid to rhabdoid histomorphology and SMARCA4 gene inactivation. We present a case of a SMARCA4-deficient thoracic sarcoma in a 41-year-old male with a smoking history who presented with an upper anterior mediastinal mass, after seeking medical evaluation for increasing thoracic pain, odynophagia, and dizziness. The biopsy confirmed a large cell tumor with an epithelioid to rhabdoid histomorphology, positive for EMA, CD99, vimentin, TLE1, INI1, PAS-positive cytoplasmic granules, and PD-L1 (100% of tumor cells). High TMB and HRD scores were displayed in the tumor. The histology and immunophenotype of the mass were in line with the diagnosis of SMARCA4-deficient thoracic sarcoma. In the course of his treatment, the patient showcased a partial response to pembrolizumab and the combination of pembrolizumab and ipilimumab. This case report highlights the importance of recognizing SMARCA4-deficient thoracic sarcoma as an individual entity and supports the importance of checkpoint inhibition therapy for SMARCA4-deficient thoracic sarcomas, particularly in cases with a high TMB and PD-L1 expression.
11 citations
TL;DR: An 83-year-old non-diabetic female with recurrent syncopal events who was diagnosed with the Doege-Potter syndrome secondary to a SFT of pleura became symptom-free within 24 h, and has remained asymptomatic at 4 months follow-up.
Abstract: Doege-Potter syndrome is a rare paraneoplastic syndrome that is often diagnosed incidentally during the workup of hypoglycemia of unclear etiology. It is characterized by a non-islet cell tumor hypoglycemia secondary to excessive production of partially processed IGF-II hormone from a solitary fibrous tumor (SFT). Often these tumors are intrathoracic, benign, and asymptomatic. Occasionally they present as a paraneoplastic event; hypertrophic osteoarthropathy in Pierre-Marie-Bamberger syndrome and hypoglycemia in Doege-Potter syndrome. The NAB2-STAT6 gene fusion is the hallmark of the SFT. Complete surgical resection of the tumor often results in resolution of symptoms and cure in most cases. Here we present the case of an 83-year-old non-diabetic female with recurrent syncopal events who was diagnosed with the Doege-Potter syndrome secondary to a SFT of pleura. Her tumor was positive for NAB2-STAT6 gene fusion on RT-PCR. Following the resection of the giant tumor mass, she became symptom-free within 24 h, and has remained asymptomatic at 4 months follow-up.
10 citations
TL;DR: In this article, the authors presented a case of a 56-year-old man who suffered from advanced ascending colon cancer, harboring echinoderm microtubule associated protein-like 4 (EML4)-ALK fusion gene E21; A20 variant, a rare variant in EML4-ALK fusion genes in lung cancer, and was offered alectinib, an ALK inhibitor, with partial response in lung, liver, and peritoneal metastasis for 8 months.
Abstract: Anti-epithelial growth factor receptor or anti-vascular endothelial growth factor agents combined with chemotherapy were the standard of treatment for metastatic colorectal cancer (CRC). However, increasing evidence of molecularly stratified treatment makes the complexity of treatment. Anaplastic lymphoma kinase (ALK) gene alternation is one of potential target for biomarker-guided therapy for CRC. We present a case of a 56-year-old man who suffered from advanced ascending colon cancer, harboring echinoderm microtubule associated protein-like 4 (EML4)-ALK fusion gene E21; A20 variant, a rare variant in EML4-ALK fusion gene in lung cancer. We also detected this fusion gene from different tissue types including circulating tumor DNA (ctDNA) and ascites fluid. The patient was offered alectinib, an ALK inhibitor, with partial response in lung, liver, and peritoneal metastasis for 8 months. Tumor heterogeneity, especially in gastrointestinal tract cancer, raise our interest in comprehensive genetic profiling in clinical practice. Convenience and reliability of next-generation sequencing, including using ctDNA, help physicians deal with clinical dilemma. ALK-positive CRC is rare. However, advanced CRC with ALK gene alteration responds to ALK inhibitor. It is reasonable to check ALK gene alteration in clinical practice for CRC.
10 citations
TL;DR: Pembrolizumab has been approved by the US Food and Drug Administration for the treatment of metastatic or unresectable solid tumors that are microsatellite instability high (MSI-H) or mismatch repair deficient as discussed by the authors.
Abstract: Pembrolizumab has been approved by the US Food and Drug Administration for the treatment of metastatic or unresectable solid tumors that are microsatellite instability-high (MSI-H) or mismatch repair deficient. Blood-based circulating tumor DNA (ctDNA) assays have been validated to identify tumors with MSI-H status without the need for tissue biopsy. We report 2 patients with metastatic castration-resistant prostate cancer (mCRPC) who had prior treatment with multiple lines of therapy and underwent ctDNA testing, which detected MSI-H status. Both patients were treated with pembrolizumab, resulting in an excellent clinical response measured with liquid biopsies before and after initiation of therapy, which demonstrated a significant reduction in somatic-variant allele frequency in addition to a decrease in prostate serum antigen levels.
9 citations
TL;DR: In this paper, the authors report the first case to their knowledge of metastatic primary cutaneous extramammary Paget disease (EMPD) with treatment response to checkpoint inhibitor immunotherapy.
Abstract: Metastatic primary cutaneous extramammary Paget disease (EMPD) is a rare clinical entity with a 5-year survival <10% and no standard therapy. We report the first case to our knowledge of metastatic EMPD with treatment response to checkpoint inhibitor immunotherapy. The patient had diffusely metastatic disease and previously progressed on cytotoxic chemotherapy and a molecularly targeted agent. Treatment with four cycles of ipilimumab 1 mg/kg plus nivolumab 3 mg/kg resulted in a durable partial response lasting 7 months. Analysis of metastatic tumor tissue failed to identify known predictors of treatment response to immune checkpoint inhibitors, such as high PD-L1 expression, high tumor mutation burden, or microsatellite instability. These findings support further investigation of immune checkpoint inhibition for the management of metastatic EMPD, which currently has an abysmal prognosis and no standard therapies.
8 citations
TL;DR: In this paper, the authors presented two cases of patients with advanced soft tissue sarcoma of different subtypes (dedifferentiated liposarcoma and myxofibrosarcka) with zero percent PD-L1 expression by immunohistochemistry who were treated with ipilimumab and nivolumab followed by maintenance nivolaumab.
Abstract: Checkpoint inhibitor therapy has been shown to improve outcomes in multiple solid malignancies; however, data are limited in soft tissue sarcoma. We present two cases of patients with advanced soft tissue sarcoma of different subtypes (dedifferentiated liposarcoma and myxofibrosarcoma) with zero percent PD-L1 expression by immunohistochemistry who were treated with ipilimumab and nivolumab followed by maintenance nivolumab. Both patients had failed multiple lines of systemic treatment and experienced long-term remission after starting ipilimumab and nivolumab. Genetic testing revealed that no genetic mutations were found in common between the two cases. One patient received concurrent cryoablation, which may have sensitized his tumor to immunotherapy. Checkpoint inhibitor therapy may improve outcomes in soft tissue sarcoma regardless of PD-L1 status, especially when combined with cryoablation. Studies are needed to evaluate whether treatment response varies by sarcoma subtype and what molecular markers can be used to guide patient selection.
8 citations
TL;DR: In this paper, the first case in the literature of a patient with a histology-proven intimal sarcoma of the heart, recurrent after surgery, treated with stereotactic MR-guided online adaptive radiation therapy on an MR-Linac machine.
Abstract: We present the first case in the literature of a patient with a histology-proven intimal sarcoma of the heart, recurrent after surgery, treated with stereotactic MR-guided online adaptive radiation therapy on an MR-Linac machine. The treatment was feasible and well tolerated. The CT scan 6 months after the last treatment showed stable disease.
7 citations
TL;DR: In this article, a 3-year-old patient was treated with a ponatinib-containing regimen with therapeutic drug monitoring in the plasma and cerebrospinal fluid (CSF).
Abstract: Ponatinib is a third-generation tyrosine kinase inhibitor (TKI) reported to show a higher efficacy for adult Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ALL) than other TKIs. However, few studies describe ponatinib for pediatric Ph+ALL; therefore, the efficacy, safety, and optimal dosage have not been determined. Here, we report a 3-year-old girl with Ph+ALL treated by a ponatinib-containing regimen with therapeutic drug monitoring in the plasma and cerebrospinal fluid (CSF). In our case, a ponatinib-containing regimen was able to keep minimal residual disease negative, and the pharmacokinetics (PKs) of plasma ponatinib resembled that previously reported in adults. Penetration to the CSF was extremely limited. Thus, ponatinib was feasible and effective for a child with Ph+ALL, although the plasma concentration of ponatinib varied significantly throughout the treatment. The appropriate dosage should be confirmed in a prospective trial, including a detailed PK study.
7 citations
TL;DR: A case of idiopathic hypereosinophilic syndrome with mainly cardiac system involvement and left ventricular thrombus formation was complicated by cerebral thromboemboli while on warfarin with international normalized ratio in the therapeutic range as mentioned in this paper.
Abstract: Idiopathic hypereosinophilic syndrome is a rare disease which is diagnosed after excluding other conditions. The syndrome is characterized by multiple organ involvement including the heart, nervous system, lungs, and gastrointestinal tract. The disease is suspected if there is peripheral blood eosinophilia and no clear etiology. The main treatment is corticosteroids. Patients who do not respond to corticosteroids can be treated with imatinib, immunomodulatory agents, myelosuppressive therapy, or mepolizumab. Alemtuzumab can be considered in severe cases that are unresponsive to other therapies. In this paper, we describe a case of idiopathic hypereosinophilic syndrome with mainly cardiac system involvement and left ventricular thrombus formation which was complicated by cerebral thromboemboli while on warfarin with international normalized ratio in the therapeutic range. Our patient responded well to steroids appreciated by improvement in clinical symptoms and decrease in eosinophil count.
7 citations
TL;DR: In this paper, a young patient with primary hyperparathyroidism who has a positive CDC73 mutation was evaluated for hypercalcemia that was found after surgery for bilateral ovarian cyst removal.
Abstract: Primary hyperparathyroidism is a relatively common endocrine disorder, affecting 7 out of 1,000 adults. The median age at onset is the 6th decade of life. Our objective was to present a young patient with primary hyperparathyroidism who has a positive CDC73 mutation. A 23-year-old woman was evaluated for hypercalcemia that was found after surgery for bilateral ovarian cyst removal. Her family history included multiple family members with nephrolithiasis. The physical examination revealed a well-appearing Caucasian woman with no palpable neck mass. The laboratory results showed serum calcium at 11.7 mg/dL (ref. 8.4-10.2), ionized calcium at 1.44 mmol/L (ref. 1.12-1.32), and serum PTH at 192 pg/mL (ref. 11-65). A technetium-99 sestamibi scan revealed focal uptake inferior to the left thyroid lobe. Thyroid ultrasound showed a left parathyroid adenoma. The patient subsequently underwent left inferior parathyroidectomy, which confirmed parathyroid adenoma, with resultant normalization of serum calcium and PTH levels. Due to her young age at diagnosis, genetic testing was performed, which revealed a mutation of CDC73. Although penetrance and expression are variable, the CDC73 mutation is associated primarily with hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and sporadic parathyroid carcinoma. This patient currently has no evidence of jaw, uterine or renal tumors on screening imaging. Given the potential impact of inheritable neoplasia, all young patients with unexplained hyperparathyroidism should be considered for genetic screening.
TL;DR: In this article, an 82-year-old woman presented with an asymptomatic and chronic pubic skin lesion for whom the work-up required many investigations and procedures to confirm the diagnosis of metastatic eccrine porocarcinoma.
Abstract: Eccrine porocarcinoma is a rare malignant cutaneous tumor with high rates of extracutaneous spread, and its diagnosis and management can be quite challenging. This is a case of an 82-year-old woman presenting with an asymptomatic and chronic pubic skin lesion for whom the work-up required many investigations and procedures to confirm the diagnosis of metastatic eccrine porocarcinoma. Indeed, the patient underwent a wide local excision of the skin lesion, imaging with an FDG-PET scan, a colonoscopy, and two inguinal node dissections. As illustrated in this case, surgery should always be considered to achieve disease remission. Other treatments such as chemotherapy and radiotherapy have also been reported in the literature without clear standard guidelines.
TL;DR: The case of a 38-year-old female patient who developed multiple lung metastasis of a triple-negative breast cancer 2 years after the completion of local therapy is reported, the first published case where a BRAF V600E-mutated advanced triple- negative breast cancer was successfully treated with vemurafenib.
Abstract: Effective treatment options are still scarce for metastatic triple-negative breast cancers. An increasing interest in the mutational landscape of this disease will facilitate novel therapeutic strategies in a variety of cancers. Here we report the case of a 38-year-old female patient who developed multiple lung metastasis of a triple-negative breast cancer 2 years after the completion of local therapy. When she progressed after two palliative chemotherapy lines and local electroporation, a next-generation sequencing revealed a BRAF V600E mutation for which we initiated therapy with the BRAF inhibitor vemurafenib. Radiological improvement was already evident after 3 months and has been ongoing for 19 months so far with very few side effects, as is demonstrated by electronically captured patient-reported outcomes. To our knowledge, this is the first published case where a BRAF V600E-mutated advanced triple-negative breast cancer was successfully treated with vemurafenib.
TL;DR: The histopathology report confirmed the diagnosis of glottic undifferentiated pleomorphic sarcoma (malignant fibrous histiocytoma) of the larynx of a 59-year-old male patient who has been smoking for 40 years.
Abstract: Pleomorphic sarcoma of the larynx is a rare variant of laryngeal cancer. We present the case of a 59-year-old male patient who has been smoking for 40 years. He presented with signs and symptoms of an obstructive glottic mass. The diagnostic workup pointed to a malignant pathology; the histopathology report confirmed the diagnosis of glottic undifferentiated pleomorphic sarcoma (malignant fibrous histiocytoma).
TL;DR: In this article, a case of anti-PD-1 induced late bullous pemphigoid (BP) with mucosal erosions and associated with a troublesome neurological disorder of undetermined origin in a patient with metastatic melanoma was reported.
Abstract: Immunotherapy has become the standard of care for various cancer types. The widespread use of immune checkpoints inhibitors confronts us with a whole range of novel immune-related adverse events. Skin toxicity is one of the most frequent adverse events. In this article, we report a case of anti-PD-1 induced late bullous pemphigoid (BP) with mucosal erosions and associated with a troublesome neurological disorder of undetermined origin in a patient with metastatic melanoma. Skin biopsy was essential to make the diagnosis and rapid initiation of systemic prednisolone played a role in favorable clinical outcome of BP. We will discuss the difficulty of early diagnosis of BP, its unusual association with neurological disorders, and the specific management of this particular dermatological entity.
TL;DR: In this paper, a 79-year-old male with treatment-related neuroendocrine-differentiated prostate cancer (NEPC) presenting as rectal bleeding after hormonal therapy was reported.
Abstract: Treatment-related neuroendocrine-differentiated prostate cancer (NEPC) is a rare tumor entity that transdifferentiates from adenocarcinoma as an adaptive response to androgen receptor pathway inhibition. We report a 79-year-old male with treatment-related NEPC, presenting as rectal bleeding after hormonal therapy. MRI showed a 51 × 52 × 65 mm tumor occupying almost the whole prostate gland and invading the seminal vesicle and rectum as moderately heterogeneous hypointensity on T2-weighted image, restricted diffusion on apparent diffusion coefficient map and diffusion-weighted imaging, and heterogeneous enhancement on Gd-enhanced T1-weighted image. FDG-PET/CT showed strong FDG uptake of the prostate tumor, and somatostatin receptor scintigraphy (SRS) showed mild uptake of the prostate tumor. The surgically resected specimen revealed NEPC. If prostate cancer worsens despite conventional therapy, treatment-related NEPC should be considered, and the benefit of imaging examinations including prostate MRI, FDG-PET/CT, and SRS is in localizing lesions with neuroendocrine differentiation.
TL;DR: In this article, two cases of primary distal femur osteosarcoma with subsequent metastasis to the abdomen were presented, and the development of abdominal metastasis was quickly followed by patient decline and death.
Abstract: Two cases of primary distal femur osteosarcoma with subsequent metastasis to the abdomen are presented. In both cases, the development of abdominal metastasis was quickly followed by patient decline and death. A review of the literature was performed, assessing the presentation and survival of patients with osteosarcoma metastasized to the abdomen. As illustrated by the current cases and the literature review, abdominal metastasis in osteosarcoma is often a late manifestation and terminal prognostic indicator. Nonetheless, early detection and prompt intervention of this less common site of disease metastasis may improve patient care and palliative therapy.
TL;DR: The first two cases of BromAc® administered directly into pleural adenomucinosis are described, with striking differences in response between the two patients likely due to differences in tumour hardness.
Abstract: Pseudomyxoma peritonei (PMP) is a rare mucinous disease most commonly arising from the appendix. Pleural involvement arising from established PMP is seen in a small number of cases. Combined cytoreductive surgery and hyperthermic intrathoracic chemotherapy is the treatment of choice when managing intra-thoracic PMP. In cases of recurrence, surgical intervention may be technically challenging and carry higher rates of complications, morbidity, and mortality. Bromelain and acetylcysteine (BromAc®) is a novel treatment modality that has demonstrated mucolytic properties. When injected directly into mucinous disease, it facilitates tumour dissolution and allows it to be aspirated. It has recently been tested in the treatment of inoperable peritoneal mucinous disease, with an acceptable safety profile and positive objective response. Here we describe the first two cases of BromAc® administered directly into pleural adenomucinosis, with striking differences in response between the two patients likely due to differences in tumour hardness.
TL;DR: In this article, a 75-year old man with metastatic, squamous-cell carcinoma (SCC) of the penis was given cemiplimab every 3 weeks at time of disease progression.
Abstract: We report on a 75-year old man who presented with metastatic, squamous-cell carcinoma (SCC) of the penis whose disease had progressed after radiotherapy (RT) and cisplatin-based chemotherapy (CT). A strong PD-L1 expression as well as a CDKN2A mutation was documented, and he was given cemiplimab every 3 weeks at time of disease progression. Complete response (CR) was demonstrated after 10 cycles, and no toxicity was reported. However, this treatment was stopped after 13 cycles when the patient developed moderate severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pneumonitis which required a 2-week hospitalization for oxygen support. Six months later, he remains in CR. To our knowledge, this is the first demonstration of a CR with cemiplimab in a metastatic penile SCC patient previously treated with CT and RT for relapse. Furthermore, the patient remains disease-free despite cemiplimab was withdrawn due to SARS-CoV-2 pneumonitis.
TL;DR: In this article, an 80-year-old female patient with advanced nonsmall cell lung cancer (NSCLC) was started on pembrolizumab monotherapy.
Abstract: Fenbendazole is a benzimidazole anthelmintic agent, with a broad antiparasitic range in animals such as dogs and pigs. The agent is also reported to exert antitumor effects and inhibit microtubule-associated tubulin polymerization, but its safety and tolerability profile in humans remains unclear. An 80-year-old female patient with advanced nonsmall cell lung cancer (NSCLC) was started on pembrolizumab monotherapy. The patient experienced severe liver injury 9 months later. An interview with her and her family revealed that she had been taking fenbendazole for a month, solely based on social media reports suggesting its effectiveness against cancer. After discontinuation of the self-administration of fenbendazole, the patient's liver dysfunction spontaneously resolved. The antitumor inhibitory effects of fenbendazole have been reported; however, she did not experience tumor shrinkage. This is the first case report of a patient with advanced NSCLC who self-administered the anthelmintic, fenbendazole. Twitter and Facebook are online social media platforms which have been constructively used to exchange information among cancer patients. However, sources of medical information on these platforms are often unproven, and it is difficult for nonmedical professionals to accurately select and filter complex medical information. Physicians should enquire patients about self-administration of orally ingested products, including dietary supplements, herbs, or bioactive compounds, in cases of unexpected adverse reactions.
TL;DR: In this article, the authors presented two patients who have survived for over 10 years after being diagnosed with de novo metastatic HER2-positive IBC, and they reviewed the data for the treatments available for metastatic Her2-negative IBC and the evolving treatment recommendations for this disease.
Abstract: Inflammatory breast cancer (IBC) is a rare type of breast cancer that is associated with poor outcomes compared with non-IBC. Overexpression of HER2 is enriched in IBC, and those with HER2-positive disease have a relatively favorable prognosis, with improved survival over the last two decades driven by the advent of novel targeted therapies. Here, we present two patients who have survived for over 10 years after being diagnosed with de novo metastatic HER2-positive IBC. We review the data for the treatments available for metastatic HER2-positive IBC and the evolving treatment recommendations for this disease.
TL;DR: In this article, the authors report a case of TAFRO syndrome and demonstrate benefit with the empiric use of anti-IL-6 antibody therapy in the context of delayed diagnosis of iMCD.
Abstract: TAFRO syndrome is defined by the presence of thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis/renal dysfunction (R), and organomegaly (O) and can be seen with idiopathic multicentric Castleman disease (iMCD) or as an isolated process without iMCD. Although the diagnosis of iMCD in patients with TAFRO can be challenging to make, iMCD should remain high on the differential diagnosis. Similar to iMCD, the pathophysiology of TAFRO is not well understood but is thought to be related to hypercytokinemia, with interleukin (IL)-6 playing a pivotal role. Anti-IL-6 monoclonal antibody therapy is an effective treatment modality for iMCD, but to date, there is no clear guidance on treatment of TAFRO in the absence of definitive diagnosis of iMCD, leading to suboptimal management and high morbidity. We report a case of TAFRO syndrome and demonstrate benefit with the empiric use of anti-IL-6 antibody therapy in the context of delayed diagnosis of iMCD.
TL;DR: The successful results obtained with the combination of the third-generation TKI osimertinib with the multitargeted TKI and MET inhibitor crizotinib in a patient with EGFR-mutant NSCLC with emerging MET amplification with a tolerable toxicity profile are described.
Abstract: Tyrosine kinase inhibitors (TKIs) represent the standard treatment for patients with non-small cell lung cancer (NSCLC) harboring epidermal growth factor receptor (EGFR) mutations. The duration of the response is, however, limited in time owing to the development of resistance mechanisms to both first- and second-generation agents such as MET oncogene amplification. This report describes the successful results obtained with the combination of the third-generation TKI osimertinib with the multitargeted TKI and MET inhibitor crizotinib in a patient with EGFR-mutant NSCLC with emerging MET amplification with a tolerable toxicity profile.
TL;DR: In this article, an 83-year-old man with core needle biopsy-proven Gleason score 5 prostate cancer had received radiotherapy including 18 Gy brachytherapy to the prostate cancer, leading to no locoregional and distant recurrence for more than 5 years with the normalization of elevated prostate-specific antigen (PSA) level before the radiotherapy.
Abstract: An 83-year-old man with core needle biopsy-proven Gleason score 5 prostate cancer had received radiotherapy including 18 Gy brachytherapy to the prostate cancer, leading to no locoregional and distant recurrence for more than 5 years with the normalization of elevated prostate-specific antigen (PSA) level before the radiotherapy. Due to the enlargement of coexisting ground glass nodule (GGN) in the left lung from 1 to 2.1 cm, the patient underwent wide resection of the GGN 7 years later. Under the diagnosis of adenocarcinoma in situ of the lung, follow-up computed tomography 6 months after the wide resection showed a rapid enlargement of a solid nodule having been judged as a presumed inflammatory nodule in the middle lobe, highly suggesting a malignant neoplasm of the lung. Due to both the tall columnar atypical cells with trabecular pattern on frozen section and no elevation of serum PSA level, we judged the nodule as a primary adenocarcinoma of the lung and further resected the middle lobe with lymph node dissection. Immunostaining of the tumor showed all the CK7, CK20, TTF-1, napsin A, synaptophysin, chromogranin, CD56, CDX2, p53, beta-catenin, and MUC2 negative, and PSA highly positive, clearly showing the solid nodule as a solitary lung metastasis of the prostate cancer. Physicians should note the possible solitary lung metastasis of prostate cancer, especially bearing indolent biology, with no elevation of the PSA level even after the completion of standard 5-year follow-up.
TL;DR: Patients with leukostasis and coagulation abnormalities can develop severe hemorrhage, even in the chronic phase of CML, so it is necessary to accurately estimate the cause and provide appropriate treatment for these patients.
Abstract: Chronic myeloid leukemia (CML) is an uncommon entity in pediatric patients. CML in chronic phase (CML-CP) has a relatively favorable outcome. Leukostasis occurs in 9.7% of patients with CML. One of the most serious leukostasis-related complications is intracranial hemorrhage (ICH). However, this is very rare in patients with CML-CP, and few early mortalities have been reported in CML patients with leukostasis. We report the case of a 14-year-old female patient with CML-CP who developed ICH 8 days after admission. A 14-year-old girl developed symptoms of fatigue and slight fever and was diagnosed with CML-CP. She was treated with imatinib and received low-molecular-weight heparin owing to coagulation abnormalities. However, 6 days later, she developed sensorineural hearing loss, which is a symptom of leukostasis. She received hydroxyurea to reduce her white blood cell (WBC) count, and her treatment was changed from imatinib to nilotinib. The WBC and platelet counts remained unchanged, blast counts did not increase, and mild coagulation abnormality persisted. Eight days after admission, she suddenly lost consciousness and experienced respiratory arrest. Cranial computed tomography revealed multiple ICH lesions and brain hernia. She received intensive care but was diagnosed with brain death by electroencephalography and died 14 days after hospitalization. ICH is very rare in patients with CML-CP; however, patients with leukostasis and coagulation abnormalities can develop severe hemorrhage, even in the chronic phase. Thus, it is necessary to accurately estimate the cause and provide appropriate treatment for these patients.
TL;DR: A case of invasive cervical cancer stage IB2 associated with human papilloma virus in a woman who was treated by multicourse photodynamic therapy (PDT) and had operative delivery by Cesarean section in April 2020.
Abstract: Cervical cancer is an important problem in women's health and a worldwide oncological disease. In 2018, the WHO registered 569,847 new cases in the world, and 3.4% were in the Russian Federation. We describe here a case of invasive cervical cancer stage IB2 associated with human papilloma virus in a woman who was treated by multicourse photodynamic therapy (PDT). A 38-year-old woman presented with abdominal pain and genital tract spotting in October 2015. Colposcopy revealed a neoplasm in cauliflower form. PAP smear result was cancer in situ (Tis). The biopsy result from the cervical canal and neoplasm was invasive squamous cell carcinoma. The patient underwent full preoperative examination (blood test, biochemical blood test, coagulation test, urinalysis, X-ray of chest organs, ECG, ultrasound investigation of pelvic organs, and PAP smear). Magnetic resonance imaging investigation showed a heterogeneous tumor, uneven contours, and intensity accumulating contrast. The patient was not pregnant, and a fertility-preserving treatment method was used. Three PDT sessions allowed to avoid vaginal radical trachelectomy. Pregnancy occurred 3 years and 8 months after the first PDT session. The patient had testing after treatment 4 times (3rd, 12th, 24th, and 60th months). She had a pregnancy without complications and had operative delivery by Cesarean section in April 2020. There was a 5-year remission period without episodes of relapse. The patient has an 8-month-old baby.
TL;DR: In this article, a 63-year-old nonsmoking male who was initially diagnosed with EGFR mutation-positive metastatic nonsquamous, non-small cell lung adenocarcinoma, who subsequently developed metachronous hepatocellular carcinoma (HCC) and squamous cell carcinoma of the femur despite first-line treatment with osimertinib.
Abstract: VHL is a tumor suppressor gene located on chromosome 3 that is classically associated with tumors of the eye and CNS, renal cell carcinoma, and pheochromocytoma. We describe what appears to be the first report of an association between a germline VHL mutation and non-small cell lung cancer and metachronous hepatocellular carcinoma (HCC). Our case involves a 63-year-old nonsmoking male who was initially diagnosed with EGFR mutation-positive metastatic nonsquamous, non-small cell lung adenocarcinoma, who subsequently developed HCC and squamous cell carcinoma of the femur despite first-line treatment with EGFR-blocking osimertinib. Caris molecular profiling unexpectedly identified a shared underlying VHL mutation in all 3 lesions. Genetic mapping through a machine learning-based tool called Genomic Prevalence Score (GPSai™) helped determine that the femur tumor was a metastatic lesion as opposed to a separate primary and that the HCC was a distinct primary malignancy. We not only highlight the association between these tumors and a VHL mutation but also emphasize the value of next-generation sequencing and a molecular disease classifier in a patient with multiple primaries, how it helps guide therapy, and its value in guiding future studies.
TL;DR: A 90-year-old woman who had acute peritonitis due to perforation of a small intestinal tumor was pathologically identified as a primary SISC with mesenteric lymph node metastasis and died 15 months after surgery without any additional treatment.
Abstract: Sarcomatoid carcinoma (SC) is a rare malignant tumor with properties of both epithelial and mesenchymal carcinomas. SC has been reported in various organs, but the number of reports for each type is small. Small intestinal tumors make up about 3-6% of gastrointestinal malignancies. Discovering them in the early stage is rare and difficult, with anemia and/or abdominal pain as the major symptoms of small intestinal tumors. Primary small intestinal SC (SISC) is rare among small intestinal tumors, and currently very few cases have been reported in the literature. Previous studies have reported that neither chemotherapy nor radiotherapy improves the overall survival rate of patients with SISC, and the prognosis is extremely poor. Currently, surgical resection remains the only optimal therapeutic approach for SISC. Here, we present the case of a 90-year-old woman who had acute peritonitis due to perforation of a small intestinal tumor. She underwent emergency exploratory laparotomy and partial resection of the small intestine, including the tumor. The tumor was pathologically identified as a primary SISC with mesenteric lymph node metastasis. Subsequently, she had recurrence in the intra-abdominal area and lymph node metastasis anterior to the inferior vena cava and died 15 months after surgery without any additional treatment.
TL;DR: In this paper, a case study of a patient with an unresectable tumour of the choanae and nasopharynx treated with a stereotactic radiotherapy boost in combination with conventional radiotherapy was presented.
Abstract: Background Adenoid cystic carcinoma (ACC) should be treated with a surgical procedure. Unfortunately, in some cases, such procedures are impossible to perform. In that event, radiotherapy can be used as a form of radical treatment, although ACC is established as a radio- and chemoresistant tumour. Therefore, unconventional fractionated radiotherapy needs to be considered. Case presentation Here, we present a case study of a patient with an unresectable tumour of the choanae and nasopharynx treated with a stereotactic radiotherapy boost in combination with conventional radiotherapy. We achieved complete clinical regression after application of a 1 × 18 Gy boost followed by conventional radiotherapy at 50 Gy in 25 fractions. The early and late tolerance of this treatment were positive. During the 2-year follow-up, local and distant recurrence were not detected. Conclusions This case represents an individualized, modern and safe approach to unresectable ACC. This is one of the first cases to show the use of a combination of stereotactic and conventional radiotherapy in radical, conservative cancer treatment.
TL;DR: This is the first case ever reported of a diffuse alveolar haemorrhage related to an ANCA-associated small vessel vasculitis as a form of presentation of breast cancer, and the therapeutic approach included the use of corticosteroids and plasmapheresis.
Abstract: Diffuse alveolar haemorrhage related to an anti-neutrophil cytoplasmic antibody (ANCA)-associated small vessel vasculitis is an extremely rare form of presentation of breast cancer. Here we report the case of a 77-year-old woman with a histological diagnosis of a papillary ductal carcinoma of the breast presenting with a diffuse alveolar haemorrhage secondary to a perinuclear ANCA-associated vasculitis. To our knowledge, this is the first case ever reported of a diffuse alveolar haemorrhage related to an ANCA-associated small vessel vasculitis as a form of presentation of breast cancer. The therapeutic approach of this paraneoplastic vasculitis included the use of corticosteroids and plasmapheresis, a very useful technique to remove endothelial aggressors (circulating antibodies) as a strategy to earn time for a proper therapeutic decision specifically directed for disease modification, but that can also be associated with several severe adverse effects, which are illustrated in our case.