Showing papers on "Clear-cell sarcoma published in 2016"
TL;DR: In this paper, a transatlantic working group was established to share institutional experiences, build large multi-institutional case series, and develop consensus documents on the approach to recurrent soft tissue sarcomas.
Abstract: Retroperitoneal soft tissue sarcomas (RPS) are rare tumors. Surgery is the mainstay of curative therapy, but local recurrence is common. No recommendations concerning the best management of recurring disease have been developed so far. Although every effort should be made to optimize the initial approach, recommendations to treat recurring RPS will be helpful to maximize disease control at recurrence. An RPS transatlantic working group was established in 2013. The goals of the group were to share institutional experiences, build large multi-institutional case series, and develop consensus documents on the approach to this difficult disease. The outcome of this document applies to recurrent RPS that is nonvisceral in origin. Included are sarcomas of major veins, undifferentiated pleomorphic sarcoma of psoas, ureteric leiomyosarcoma (LMS). Excluded are desmoids-type fibromatosis, angiomyolipoma, gastrointestinal stromal tumors, sarcomas arising from the gut or its mesentery, uterine LMS, prostatic sarcoma, paratesticular/spermatic cord sarcoma, Ewing sarcoma, alveolar/embryonal rhabdomyosarcoma, sarcoma arising from teratoma, carcinosarcoma, sarcomatoid carcinoma, clear cell sarcoma, radiation-induced sarcoma, paraganglioma, and malignant pheochromocytoma. Recurrent RPS management was evaluated from diagnosis to follow-up. It is a rare and complex malignancy that is best managed by an experienced multidisciplinary team in a specialized referral center. The best chance of cure is at the time of primary presentation, but some patients may experience prolonged disease control also at recurrence, when the approach is optimized and follows the recommendations contained herein. International collaboration is critical for adding to the present knowledge. A transatlantic prospective registry has been established.
216 citations
TL;DR: Recurrent BCOR exon 16 ITD and YWHAE-NUTM2B fusions in half of infantile soft tissue URCS and most PMMTI cases, but not in other pediatric sarcomas, suggest a significant overlap between infantile URCs and CCSK, thus raising the possibility of a soft tissue counterpart to C CSK.
Abstract: Soft tissue undifferentiated round cell sarcoma (URCS) occurring in infants is a heterogenous group of tumors, often lacking known genetic abnormalities. On the basis of a t(10;17;14) karyotype in a pelvic URCS of a 4-month-old boy showing similar breakpoints with clear cell sarcoma of kidney (CCSK), we have investigated the possibility of shared genetic abnormalities in CCSK and soft tissue URCS. Most CCSKs are characterized by BCOR exon 16 internal tandem duplications (ITDs), whereas a smaller subset shows YWHAE-NUTM2B/E fusions. Because of overlapping clinicopathologic features, we have also investigated these genetic alterations in the so-called primitive myxoid mesenchymal tumor of infancy (PMMTI). Among the 22 infantile URCSs and 7 PMMTIs selected, RNA sequencing was performed in 5 and 2 cases, with frozen tissue, respectively. The remaining cases with archival material were tested for YWHAE-NUTM2B/E by fluorescence in situ hybridization (FISH) or reverse transcription-polymerase chain reaction (RT-PCR), and BCOR ITD by PCR. A control group of 4 CCSKs and 14 URCSs in older children or adults without known gene fusion and 20 other sarcomas with similar histomorphology or age at presentation were also tested. A YWHAE-NUTM2B fusion was confirmed in the index case by FISH and RT-PCR, whereas BCOR ITD was lacking. An identical YWHAE-NUTM2B fusion was found in another URCS case of a 5-month-old girl with a back lesion. The remaining cases and control group lacked YWHAE gene rearrangements; instead, consistent BCOR ITDs, similar to CCSK, were found in 15/29 (52%) infantile sarcoma cases (9/22 infantile URCS and 6/7 PMMTI). In the control cohort, BCOR ITD was found only in 3 CCSK cases but not in the other sarcomas. Histologically, URCS with both genotypes and PMMTI shared significant histologic overlap, with uniform small blue round cells with fine chromatin and indistinct nucleoli. A prominent capillary network similar to CCSK, rosette structures, and varying degree of myxoid change were occasionally seen. BCOR ITD-positive tumors occurred preferentially in the somatic soft tissue of the trunk, abdomen, and head and neck, sparing the extremities. RNAseq showed high BCOR mRNA levels in BCOR ITD-positive cases, compared with other URCSs. In summary, we report recurrent BCOR exon 16 ITD and YWHAE-NUTM2B fusions in half of infantile soft tissue URCS and most PMMTI cases, but not in other pediatric sarcomas. These findings suggest a significant overlap between infantile URCS and CCSK, such as age at presentation, histologic features, and genetic signature, thus raising the possibility of a soft tissue counterpart to CCSK.
150 citations
TL;DR: Different distribution of Sarcoma histotypes, more high-stage and high-grade sarcomas at diagnosis, less aggressive treatment, and worse survival rates emphasize the need for optimizing sarcoma research and care of the elderly.
Abstract: Background
Nearly half of soft-tissue sarcoma (STS) patients are over the age of 65, and the behavior of cancer in these elderly patients is poorly understood. The aim of this study was to assess the impact of age, sarcoma histotype, grade, stage, and treatment modalities on survival of extremity STS (ESTS) patients.
51 citations
TL;DR: Three molecularly confirmed primary head and neck clear cell sarcoma are reported and the literature is reviewed to confirm the existence of the disease.
Abstract: Background
Clear cell sarcoma typically arises in deep soft tissues of the foot/ankle. Primary head and neck clear cell sarcoma is rare. We report three molecularly confirmed primary head and neck clear cell sarcoma and review the literature.
Methods
Head and neck clear cell sarcoma with no primary elsewhere were retrieved from archival/consultation files. English language literature review of all reported head and neck clear cell sarcoma was performed.
Results
Three cases were identified. The tumors, all in men, presented on the scalp of a 33-year-old, face of a 20-year-old and tongue of a 44-year-old. Tumors ranged from 0.6 to 1.4 cm. All had typical features of clear cell sarcoma, including nests of tumor cells divided by fibrous septae. One had multinucleated wreath-like giant cells. One had a focal junctional component. Immunohistochemistry was positive for S100 (three out of three), HMB45 (three out of three) and Melan-A (two out of three). All had EWSR1 rearrangements by fluorescence in situ hybridization. Follow up available for one patient revealed no evidence of disease after wide excision and radiation. Seven additional reported cases were identified and tabulated.
Conclusion
Head and neck clear cell sarcoma is rare but should be considered in the differential diagnosis of nested tumors with fibrous septae. Molecular analysis should be considered for definitive diagnosis regardless of location.
32 citations
TL;DR: Minimal disseminated disease (MDD) was not detected in frozen-thawed ovarian tissue from 26 patients by any of the sensitive methods applied, even from patients who subsequently died and/or those who presented with metastasis, hence the most aggressive forms of bone cancer.
Abstract: STUDY QUESTION What is the risk of finding malignant cells in cryopreserved ovarian tissue from sarcoma patients? SUMMARY ANSWER Minimal disseminated disease (MDD) was not detected in frozen-thawed ovarian tissue from 26 patients by any of the sensitive methods applied. WHAT IS KNOWN ALREADY In case of leukemia, the risk of malignant cell transmission through the graft is well known and widely documented. However, for bone cancer, like Ewing sarcoma or osteosarcoma, only a small number of case reports, have been published. These cancers often affect prepubertal girls, in whom ovarian tissue cryopreservation and transplantation is the only option to preserve fertility. STUDY DESIGN, SIZE, DURATION The presence of malignant cells in cryopreserved ovarian tissue from patients with bone/soft tissue sarcoma was investigated with disease-specific markers for each patient, using immunohistochemistry (IHC), FISH and real-time quantitative RT-PCR (qPCR), with the original tumor serving as a positive control. PARTICIPANTS/MATERIALS, SETTING, METHODS Forty-eight sarcoma patients were enrolled in the study, 12 of whom subsequently died. In each case, tissue from the primary tumor was investigated in order to identify markers (immunohistochemical and/or molecular) to analyze the ovarian tissue case by case. Ovarian tissue from osteosarcoma (n = 15), liposarcoma (n = 1) and undifferentiated sarcoma (n = 5) patients could not be evaluated, as no specific markers were detected by FISH or sensitive IHC in any of their primary tumoral tissue. One patient with Li-Fraumeni syndrome was also excluded from the study. IHC analyses were therefore performed on ovarian tissue from 26 patients and qPCR on 19. The primary tumors involved were Ewing sarcoma family of tumors (n = 14), rhabdomyosarcoma (n = 7), synovial sarcoma (n = 2), clear cell sarcoma (n = 2) and a malignant peripheral nerve sheath tumor (n = 1). MAIN RESULTS AND THE ROLE OF CHANCE MDD was not detected in any of the 26 analyzed samples using sensitive techniques in this largest reported series, even from patients who subsequently died and/or those who presented with metastasis (11/26), hence the most aggressive forms of bone cancer. Indeed, anti-CD99 IHC and PCR performed on patients presenting with Ewing sarcoma family of tumors (n = 14) was negative in all cases. In patients with soft tissue sarcoma (n = 12) primitive tumor markers were detected by IHC and were negative in ovarian tissue. PCR could only be performed in 6/12 of these patients, again proving negative. LIMITATIONS, REASONS FOR CAUTION Cryopreserved ovarian fragments to be transplanted cannot be tested, so this analysis of malignant cells cannot guarantee that all cryopreserved fragments will not contain any disseminated disease. Moreover, molecular markers are not readily available for all types of tumors. WIDER IMPLICATIONS OF THE FINDINGS These results are reassuring regarding the risk of malignant cells in the ovary for transplantation, as the study involves a large series including different types of sarcomas. We believe this will help clinicians in their patient counseling for fertility preservation and restoration. STUDY FUNDING/COMPETING INTERESTS This work was supported by the Fonds National de la Recherche Scientifique de Belgique-FNRS under Grants Nos 7.4578.14 (Televie to MS) and 5/4/150/5 to MMD. The authors declare no competing financial interests.
28 citations
TL;DR: A patient with a small bowel GNET who experienced recurrent hepatic and skeletal metastases after a primary resection is presented and Comprehensive genomic profiling in the course of clinical care demonstrated the presence of an exon 7 to exon 6 EWSR1-CREB1 fusion in the context of a diploid genome with no other genomic alterations.
Abstract: Malignant gastrointestinal neuroectodermal tumor (GNET) is an aggressive rare tumor, primarily occurring in young adults with frequent local-regional metastases and recurrence after local control. The tumor is characterized by the presence of EWSR1-ATF1 or EWSR1-CREB1 and immunohistochemical positivity for S-100 protein without melanocytic marker positivity. Due to poor responses to standard sarcoma regimens, GNET has a poor prognosis, and development of effective systemic therapy is desperately needed to treat these patients. Herein, we present a patient with a small bowel GNET who experienced recurrent hepatic and skeletal metastases after a primary resection. Comprehensive genomic profiling (CGP) in the course of clinical care with DNA and RNA sequencing demonstrated the presence of an exon 7 to exon 6 EWSR1-CREB1 fusion in the context of a diploid genome with no other genomic alterations. In a clinical trial, the patient received a combination of 250 mg crizotinib with 600 mg pazopanib quaque die and achieved partial response and durable clinical benefit for over 2.8 years, and with minimal toxicity from therapy. Using a CGP database of over 50,000 samples, we identified 11 additional cases that harbor EWSR1-CREB1 and report clinicopathologic characteristics, as these patients may also benefit from such a regimen.
26 citations
TL;DR: A case of gastric malignant gastrointestinal neuroectodermal tumor occurring in a 46-year-old woman and showing striking oncocytic cytoplasmic change, a previously undescribed potential diagnostic pitfall is reported, and it is suggested that MGNET should be included in the differential diagnosis for unusual onCocytic neoplasms of the gastrointestinal tract.
24 citations
TL;DR: Clear cell AFX must be differentiated from other cutaneous clear cell neoplasms, some of them with an aggressive clinical behavior, including clear cell melanoma, primary cutaneous and metastatic clear cell carcinomas, clear cell sarcoma, pleomorphic liposarcomA, tumor of perivascular epithelioid cells, and distinctive dermal clear cell mesenchymal neoplasm.
Abstract: Atypical fibroxanthoma (AFX) is an uncommon dermal-based neoplasm arising on the sun-damaged skin of elderly people. Clear cell AFX is a rare variant with only 12 cases reported until the present date, all of them as case reports, except for 1 small series of 3 cases. The authors report 6 new cases and review the literature with special emphasis on the differential diagnosis. The clear cell variant represents 5% of AFX from their files. Histopathologically, it consists of sheets of epithelioid, pleomorphic cells, intermixed with a varying number of giant multinucleated and spindle cells, the latter arranged in a fascicular pattern. All cell types predominantly exhibit a clear, microvacuolated cytoplasm with well-demarcated cell borders. The clinical and immunohistochemical features of this variant are similar to those of the classic type. Clear cell AFX must be differentiated from other cutaneous clear cell neoplasms, some of them with an aggressive clinical behavior, including clear cell melanoma, primary cutaneous and metastatic clear cell carcinomas, clear cell sarcoma, pleomorphic liposarcoma, tumor of perivascular epithelioid cells, and distinctive dermal clear cell mesenchymal neoplasm. The clinical presentation and immunohistochemical profile play a key role in the differential diagnosis.
11 citations
8 citations
TL;DR: A case of a CCSLGT arising from the ascending colon of a previously well 22-year-old man presenting with abdominal pain and anaemia is presented.
Abstract: Introduction A clear cell sarcoma-like gastrointestinal tumour (CCSLGT) is a rare malignant soft tissue sarcoma. In the literature, they are sometimes referred to as malignant gastrointestinal neuroectodermal tumours, clear cell sarcomas or osteoclast rich tumours of the gastrointestinal tract. Case history We present a case of a CCSLGT arising from the ascending colon of a previously well 22-year-old man presenting with abdominal pain and anaemia. Computed tomography of the abdomen and pelvis showed a 7cm irregular mass in the right flank that seemed to emerge from the proximal transverse colon. A laparoscopic right hemicolectomy was undertaken to remove the mass. Microscopic pathological examination of the specimen revealed sections of spindle to oval cells with monomorphic nuclei and scant cytoplasm. The cells were arranged in a striking perivascular growth pattern with microcytic breakdown and pseudopapillary formation. Immunohistochemistry analysis showed that the tumour cells removed expressed S100 ...
8 citations
TL;DR: Two cases (male patients 50 and 55 years old) of clear cell sarcoma arising in the lung, of which one case showed regional lymph node metastases, and a presence of EWS-ATF1 fusion transcript was confirmed by RT-PCR and sequencing in one case.
Abstract: We report two cases (male patients 50 and 55 years old) of clear cell sarcoma ("melanoma of soft parts") arising in the lung, of which one case showed regional lymph node metastases. Histologically, both tumors displayed varying clear epithelioid and spindle neoplastic cells arranged in storiform and nested growth patterns, separated by thin fibrovascular septa. Immunohistochemical studies demonstrated positive expression of S-100 protein, HMB-45 and Melan-A in one case and S-100 protein only in the other. Fluorescence in situ hybridization showed positive EWSR1 gene rearrangement, and a presence of EWS-ATF1 fusion transcript was confirmed by RT-PCR and sequencing in one case.
TL;DR: A case in which two separate tumors, one in the duodenum and the other in the jejunum, present concurrently, and the subject presented with symptomatic anemia and underwent imaging and endoscopic studies that culminated in the discovery of the two lesions.
Abstract: Clear cell sarcoma (CCS) is an uncommon tumor that usually presents as an extremity mass but can rarely manifest as a gastrointestinal tumor with a diverse spectrum of symptoms, most commonly related to a mass effect or ulceration. Herein we report a case in which two separate tumors, one in the duodenum and the other in the jejunum, present concurrently. The subject presented with symptomatic anemia and underwent imaging and endoscopic studies that culminated in the discovery of the two lesions. He subsequently underwent operative treatment with resection of both tumors and made an unremarkable recovery. The resection specimen consisted of two separate clear cell sarcomas with negative margins. Under microscopic evaluation, they demonstrated nested growths of epithelioid cells with scattered spindled cells infiltrating the enteric wall. The neoplastic cells were positive for S100 with scattered expression of Melan A. Florescence in situ hybridization revealed a translocation at the EWRS1 locus. He was disease-free for 30 months following the procedure; then he developed a rapidly progressing metastatic disease with subsequent death 4 months later.
TL;DR: The crucial overlapping features between a melanoma and a clear-cell sarcoma are pointed out from a theranostic point of view.
Abstract: To the Editor, With interest we read the case report by Protsenko et al. on a metastatic BRAFV600E-mutated clear cell sarcoma responding to vemurafenib anti-BRAF targeted therapy [1]. We want to point out the crucial overlapping features between a melanoma and a clear-cell sarcoma from a theranostic point of view. Clear cell sarcoma represents about 1 % of all soft tissue sarcomas with an estimated yearly incidence of less than five cases per 10 million persons. With an annual incidence of some ten cases per 100,000 persons, malignant melanoma is about 200 times more frequent than clear cell sarcoma. Clear cell sarcoma is often intimately associated with tendons and aponeuroses and occurs in the extremities, with the foot/ankle accounts for 40% of the cases. The head, the neck or the trunk regions are rarely affected. This tumor usually affects young adults in their 20s and 30s and presents as a slowly growing mass. In the report, Protsenko et al. report a very unusual clinical observation of a fast-growing tumor of the left lumbar area in a 46-year-old man. From a pathological point of view, clear cell sarcomas and malignant melanomas share many histological and immunohistochemical features. Therefore, a melanoma can easily disguise itself as a clear cell sarcoma. The histopathological differential diagnosis between a malignant melanoma, especially a metastasis, and a clear cell sarcoma is not obvious. It is even more difficult when, as seen in many melanomas, the primary tumor remains unidentified despite of the metastatic evolution (so-called melanoma of an unknown primary origin). Differential diagnosis requires a search for rearrangements of EWSR1 (22q12) gene present in about 96 % of all clearcell sarcomas (according to the lastWHO classification of soft tissue tumors) and absent in melanomas. Fluorescent in situ hybridization (FISH) with a EWSR1 break-apart probe allows the detection of the rearrangements of the gene independently of its partner. Reverse-transcriptase polymerase chain reaction (RT-PCR) with specific primers can be used to detect the EWSR1/ATF1 fusion due to t(12;22)(q13;q12) or the EWSR1/CREB1 fusion due to t(2;22)(q32.3;q12), present in about 90 and 6 % of the cases, respectively. Protsenko et al. reported the absence of EWSR1/ATF1 and EWSR1/CREB1 fusions. As the method used to perform these analyses is not mentioned (presumably RT-PCR), we question whether a EWSR1 break-apart probe FISH analysis might have been an interesting method in the search of a yet unknown EWSR1 partner. Indeed, EWSR1 rearrangement is considered to be a hallmark of a clear-cell sarcoma and has been proven helpful in differentiating clear cell sarcomas frommetastatic melanomas. On the other hand, BRAFV600E mutation * Arnaud Uguen arnaud.uguen@chu-brest.fr
TL;DR: The case of a 39-year-old man who was referred to Singapore General Hospital, Singapore, for swelling of the left thigh that was initially diagnosed as extraosseous chondrosarcoma, however, repeat biopsy results indicated the diagnosis of STMC, a rare soft tissue myoepithelial cell carcinoma.
Abstract: Dear Sir,
Myoepithelial cell carcinoma, first described by Stromeyer et al in 1975, is defined as a malignant carcinoma that primarily arises from the parotid gland;(1) it may also arise from the mammary glands. In 1991, myoepithelial cell carcinoma was added to the second edition of the World Health Organization’s classification of malignant salivary gland tumours.(2) Soft tissue myoepithelial cell carcinoma (STMC) is rare compared to its counterparts arising from the salivary glands.
We herein describe the case of a 39-year-old man who was referred to Singapore General Hospital, Singapore, for swelling of the left thigh that was initially diagnosed as extraosseous chondrosarcoma. However, repeat biopsy results indicated the diagnosis of STMC. The patient had undergone two cycles of neoadjuvant chemotherapy. Subsequent repeat magnetic resonance imaging showed that the tumour, which arose from the vastus medialis, had increased in size from approximately 20.0 cm × 18.8 cm × 27.3 cm to about 23.2 cm × 20.1 cm × 32.9 cm. Surgical resection options were discussed, but the patient declined surgery.
STMC is rarely reported compared to carcinoma of the parotid gland. Patients who were diagnosed with STMC ranged from 3–83 years of age, with a mean age of 40 years and a slight male predilection.(3) Nearly two-thirds of reported cases were for tumours arising from the extremities (38% lower and 27% upper extremity); the remainder involved the head and the neck regions (16%), trunk (13%), and visceral soft tissue (6%).(4) Approximately 60% of these tumours are subcutaneous in origin and 40% occur in deep soft tissue (i.e. intramuscular or subfascial).(4)
In our patient, we experienced difficulty in interpreting the histological diagnosis. This is not uncommon as, due to histological polymorphism, STMC poses different challenges. Several entities share similar characteristics with STMC. Hence, immunohistochemistry investigation plays a vital role in differentiating this type of tumour. The neoplastic myoepithelial cells express the epithelial markers AE1/AE3 (90%) and EMA (60%), and myoepithelial markers S-100 protein (89%), calponin (87%), glial fibrillary acidic protein (46%) and smooth muscle actin (36%).(5)
Regarding the genetic study of myoepithelial cell carcinoma, the study by Antonescu et al, which included 66 cases, showed that the EWS RNA-Binding Protein 1 (EWSR1) gene rearrangement was a common event in myoepithelial tumours arising outside of salivary glands, as found in 45% of cases.(6) The EWSR1 gene is located on chromosome band 22q12 and encodes a promoter-specific transactivator.(7) EWSR1 gene rearrangement is also associated with several neoplasms such as Ewing’s sarcoma, clear cell sarcoma, myxoid liposarcoma and extraskeletal myxoid chondrosarcoma.(6) However, a study by Rekhi et al(7) reported that only 50% of STMC cases expressed EWSR1 gene rearrangement; similarly, our patient did not exhibit EWSR1 gene rearrangement. This indicated that EWSR1 gene rearrangement may not necessarily present in general cases of STMC. Another study by Aparicio et al showed that a patient diagnosed with EWSR1-negative subsequently passed away due to multiple metastasis,(8) suggesting a poor prognosis and the need for close follow-up.
Complete surgical resection is recommended for treatment of myoepithelial cell carcinoma. As our patient declined surgery, he only received chemotherapy, which failed to control the tumour locally. A recent study has reported positive clinical outcomes through the use of a treatment strategy involving a combination of aggressive local control, chemotherapy and radiotherapy.(9) However, as the study mainly involved paediatric patients and was limited by its small size, further long-term patient follow-up is required. Two studies reported a 42% risk of local recurrence of the tumour and that a further 32%–52% had metastasised.(3,10) This indicates that myoepithelial cell carcinoma can have an aggressive clinical course. Common reported sites of metastasis include the lungs, bone, lymph nodes and soft tissue.(10) Even benign myoepithelioma tumours have a reported 20% risk of local recurrence.(3)
In conclusion, due to the rare nature of STMC, it remains a diagnostic challenge. However, the implementation of immunochemistry and genetic typing as diagnostic tools will help to accurately differentiate STMC from other tumours and, in turn, improve prognosis. As there is currently no general consensus on the management of STMC, a combination strategy may be the key to the treatment of this particular tumour.
Yours sincerely,
TL;DR: Clear cell sarcoma of kidney is an uncommon neoplasm accounting for approximately 5% of all pediatric renal neoplasms, with a peak incidence between 1-3 years of age, and males are most commonly affected.
Abstract: Clear cell sarcoma of kidney is an uncommon neoplasm accounting for approximately 5% of all pediatric renal neoplasms, with a peak incidence between 1-3 years of age. Males are most commonly affected (M:F ratio – 2:1). It is a highly malignant neoplasm with a high propensity than other renal neoplasms to metastasize to bones, hence originally called as bone-metastasizing renal tumour of childhood by Marsden and Lawler. We describe here 2 case reports of clear cell sarcoma of kidney .
Journal Article•
TL;DR: The case of a 67-year-old female with clear cell sarcoma of the vulva, the first report of CCS arising in the vulvar mass, is reported, to the best of the authors' knowledge.
Abstract: We report the case of a 67-year-old female with clear cell sarcoma (CCS) of the vulva. Grossly, the tumor was a partly exophytical vulvar mass, measuring 20 x 15 cm. At the time of presentation, the patient showed metastases to the lung, inguinal and pelvic lymph nodes. Histologically, the tumor consisted of oval or spindle cells with only mild nuclear pleomorphism and rare mitoses (up to 2/10 HPF). The cytoplasm was pale eosinophilic or clear. The tumor cells were arranged in confluent sheets. There were large areas of necrosis and surface ulceration. Immunohistochemically, the tumor cells showed expression of S-100 protein and focal melan A and HMB45 expression. Fluorescent in situ hybridization analysis revealed rearrangement of the EWSR1 gene. To the best of our knowledge, this is the first report of CCS arising in the vulva.
TL;DR: Investigation of a 21 years old female with a chronic recurrent swelling of the left mid finger was diagnosed as epithelioid sarcoma on histopathological examination and immunohistochemistry staining is used for sub-typing of the tumor, predicts the prognosis of the tumors and also the response to the specific type of therapy.
Abstract: Synonyms: Clear cell sarcoma of soft tissue, Clear cell sarcoma of the tendons and aponeuroses, malignant melanoma of the soft parts. Background: Rodriguez-Martin, Ortiz-Cruz, Del Rio, Vivanco, & Lopaz-Amor in 2011 stated “Clear cell sarcoma is a high-grade soft tissue sarcoma seen in adolescents and young adults, with melanosytic differentiation typically involving tendons and aponeuroses”. Clear cell sarcoma of soft tissue (CCSST) was originally described by Dr. Franz M. Enzinger in 1965 as a distinct entity of tumors arising from tendons and aponeuroses in young adults. Clear cell sarcoma (CCS) of soft tissue is a rare sarcoma with morphologic similarities to malignant melanoma. They are characterized by a distinct genetic background including a chromosomal translocation t(12;22)(q13;q12), or a resultant EWSR1-ATF1 fusion gene. The lower limbs are involved more commonly. Clear cell sarcoma has been reported in other tissues such as bone, colon and gastrointestinal tract. The clear cell sarcoma that occurs in relation to the gastrointestinal tract has a variant fusion gene EWSR1-CREB1 and they are re-designated as gastrointestinal neuroectodermal tumor (GNET). Material and method: A 21 years old female with a chronic recurrent swelling of the left mid finger was diagnosed as epithelioid sarcoma on histopathological examination. Immunohistochemistry was done with basic tumor markers panel and a diagnosis of clear cell sarcoma was confirmed. Result: Immunohistochemistry staining is used for sub-typing of the tumor, predicts the prognosis of the tumor and also the response to the specific type of therapy.
TL;DR: Through the report of a rare case of a young child with isolated cerebellar relapse of CCSK treated by a multimodality approach with a summary literature review, the role of post-operative radiation therapy in the management of this rare entity is emphasized.
Abstract: Brain metastasis is relatively uncommon in children with solid tumors. Less than 4.5% of children with solid tumors will develop parenchymal intracranial metastasis, whereas brain relapse of clear cell sarcoma of the kidney occurs in about 5% of cases during the follow-up. The prognosis of patient with relapsed clear cell sarcoma of the kidney (CCSK) is generally reserved with a 5-year event-free survival of 18%, and a 5-year overall survival of 26% in one of the largest series. However, several cases of solitary brain metastasis were successfully managed by a multimodality aggressive approach including radiation therapy, with long term survivals reported in the literature data. Because of the relative rarity of this particular entity, information regarding management and prognosis are still missing. Through the report of a rare case of a young child with isolated cerebellar relapse of CCSK treated by a multimodality approach with a summary literature review, we try to emphasize the role of post-operative radiation therapy in the management of this rare entity.
Journal Article•
TL;DR: A 29 year old female came with a 4 month history of intermittent dragging pain over the right hypochondrial region and a heterogeneous mass originating from the mid region of left kidney was diagnosed with Clear cell sarcoma of the kidney.
Abstract: Clear cell sarcoma of the kidney is an uncommon pediatric renal neoplasm which comprises approximately 4 Percent. Incidence peaks during second year of life and is extremely rare in adults. A 29 year old female came with a 4 month history of intermittent dragging pain over the right hypochondrial region. Abdominal pelvic ultrasonogram showed a heterogeneous mass originating from the mid region of left kidney. Right radical nephrectomy was performed. The histopathological diagnosis of the mass was Clear cell sarcoma of the kidney. This case is presented for its rarity of age group.
01 Jan 2016
TL;DR: Treatment for pediatric renal tumors is multimodal, and requires close collaboration between subspecialists with expertise in oncology, surgery, and radiation oncOLOGY.
Abstract: Renal tumors comprise roughly 6% of all childhood malignancies. Wilms’ tumor is the most common pediatric renal tumor. Less common renal tumors include clear cell sarcoma of the kidney, malignant rhabdoid tumor of the kidney, and renal cell carcinoma. Wilms’ tumor is known to be associated with multiple genetic disorders, including Beckwith–Wiedemann syndrome, Denys–Drash syndrome, and WAGR syndrome. Treatment for pediatric renal tumors is multimodal, and requires close collaboration between subspecialists with expertise in oncology, surgery, and radiation oncology.
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TL;DR: Clinical dermatological examination of doubtful pigmented lesions, complemented by histopathologic diagnostics is a crucial step important for timely diagnosis in order to avoid delay in the therapy which is important for patient’s disease outcome.
Abstract: Objective: The objective of this paper is to present a diagnostic procedure in a case of residual melanoma of the finger. Case report: We received a dome shaped, skin specimen from a forty-four year old man. The skin sample was taken from the fourth finger of his right hand and it was 1 cm in diameter. The skin coloured lesion was serially sectioned and submitted for histopathologic analysis. Microscopic examination showed that it was melanocytic lesion and considering it had no epidermal component, additional molecular analyses were needed to exclude a clear cell sarcoma. A diagnosis of residual melanoma was made, from subsequently received clinical data, however there was no accompanying histopathological analysis from the first excision. Conclusion: A histopathological diagnosis, in general, as well as in the case of melanoma may be difficult due to the lack of clinical data. Contemporary histopathological diagnostics has a good support tools for establishing an accurate diagnosis, which governs the further diagnostic and therapeutic patient’s protocol. However, clinical dermatological examination of doubtful pigmented lesions, complemented by histopathologic diagnostics is a crucial step important for timely diagnosis in order to avoid delay in the therapy which is important for patient’s disease outcome.
TL;DR: A case of CCS of the dorsum of the wrist closely abutting the tendons with MRI-histopathologic correlation including diffusionweighted imaging is described.
Abstract: Clear cell sarcoma (CCS, malignant melanoma of soft parts) is a rare neoplasm accounting for 1% of all soft tissue sarcomas (1). Young adults between the ages of 20 and 40 are most commonly involved (1). CCS is intimately associated with or in a tendon, ligament, or aponeurosis. Suggestive features of diagnosis best seen on MR imaging include a mass having components not only surrounding but within a tendon, ligament, or aponeurosis. Herein, we describe a case of CCS of the dorsum of the wrist closely abutting the tendons with MRI-histopathologic correlation including diffusionweighted imaging.
TL;DR: A case of clear cell sarcoma of soft tissue arising in the left foot of a 12 year old child is reported.
01 Mar 2016
TL;DR: In this article, the authors reported the first case located in primary liver and prolonged relapse-free survival after appropriate surgical management and adjuvant chemotherapy, and to date, there are fewer than 50 reported cases of this disease.
Abstract: The gastrointestinal neuroectodermal tumor malignant (GNET) is an extremely rare entity recently described in the literature and is also known as tumor-like clear cell sarcoma of the gastrointestinal tract (CCSLGT) for their morphological and molecular similarity clear cell sarcoma of tendons and aponeuroses (CCS). However, given the presence of rearrangements of EWSR1 gene and neuroectodermal differentiation, some authors has been considered GNET more appropriate term. It is a disease with poor prognosis and high recurrence rate almost always metastatic from diagnosis in contrast to the relatively indolent behavior of CSS. To our knowledge there are fewer than 50 reported cases of this disease and to date this would be the first case located in primary liver and prolonged relapse-free survival after appropriate surgical management and adjuvant chemotherapy