Showing papers in "Československá patologie in 2011"
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TL;DR: The advanced stage of the tumor seen in the present case further confirms that pseudoglandular SCC represents a highly aggressive tumor.
Abstract: SUMMARY A case of so-called pseudoglandular (adenoid, acantholytic) squamous cell carcinoma (SCC) of the penis occurring in a 60-year-old man is described. The tumor showed, in addition to the pattern of conventional moderately to poorly differentiated SCC, a component of tubular-appearing pseudoglandular SCC. No precancerous dysplastic lesion was found near the lesion. Immunohistochemically, the tumor cells expressed pancytokeratin, p53 and p63, and they were negative for endothelial markers, carcinoembryonic antigen and p16. Stains for mucin were negative. Metastases were found in the regional lymph nodes and spermatic cord. Four weeks after the penectomy, multiple cutaneous/subcutaneous metastases appeared and metastases in the pelvic lymph nodes were visualized through a CT scan. The advanced stage of the tumor seen in the present case further confirms that pseudoglandular SCC represents a highly aggressive tumor. Pseudoglandularny (adenoidn˘, akantolytick˘) dlaIdicovobunkov˘ karcinom penisu. Popis pripadu SUHRN Prezentovan˘ je pripad pseudoglandularneho (adenoidneho, akantolytickeho) dlaIdicovobunkoveho karcinomu penisu u 60-roaneho pacienta. Tumor obsahoval okrem ‰truktur konvenaneho dlaIdicovobunkoveho karcinomu komponent pseudoglandularny, ktor˘ napodobAoval tubuly adenokarcinomu. V epidermis vedoa tumoru nebola najdena prekurzorova dysplasticka lezia. Imunohistochemicky exprimovali bunky nadoru pancytokeratin AE1/AE3, p53 a p63, a boli negativne na endotelove markery, CEA a p16. Farbenia na mucin boli negativne. Metastazy boli pritomne v regionalnych lymfatick˘ch uzlinach a vo funiculus spermaticus. ·tyri t˘Idne po operacii sa objavili poaetne koIne/podkoIne metastazy v podbru‰ku, v oboch ingvinach a na prednej medialnej strane stehien. Vy‰etrenie CT zistilo pakety metastaticky postihnut˘ch lymfatick˘ch uzlin v panve. Vysoke ‰tadium pri prezentacii tumoru a ial‰i priebeh potvrdzuju, Ie pseudoglandularny dlaIdicovobunkov˘ karcinom penisu je vysoko agresivny tumor.
6 citations
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TL;DR: A case of sporadic Burkitt lymphoma accompanied by a Sarcoid-like reaction without any clinical, laboratory or histological evidence of microorganisms nor sarcoidosis is presented.
Abstract: SUMMARY Formation of epithelioid histiocytic cell granulomas has been described in the past in various neoplasms, hematologic malignancies included. Among lymphoproliferative disorders such changes are commonly found in Hodgkin lymphoma and T-cell non-Hodgkin lymphomas (NHL), but are rarely described in B-NHL, like Burkitt lymphoma. This report presents a case of sporadic Burkitt lymphoma accompanied by a sarcoid-like reaction without any clinical, laboratory or histological evidence of microorganisms nor sarcoidosis. Using in situ hybridization and polymerase chain reaction the presence of the Epstein-Barr virus (EBV) was detected in the analyzed lymphoma cells. EBV demonstrated latency I phenotype as defined by the lack of immunohistochemical positivity of latent membrane protein 1 (LMP1). Cytogenetic investigation using fluorescence in situ hybridization uncovered c-MYC mutation and provided indirect indication for the MYC/IgL fusion gene. The lack of EBV positivity in histiocytes indicated the reactive character of the granulomatous reaction in relation to the neoplasm. The role of the granulomatous reaction in the biology and prognosis of Burkitt lymphoma and the function of EBV infection in its development remain to be established.
5 citations
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TL;DR: A case of a glomus tumor of the stomach in a 71-year-old female patient who presented with dyspepsia is reported, confined to the lamina muscularis propria, it consisted of round cells with small uniform nuclei, which surrounded thin walled blood vessels.
Abstract: Glomus tumor is a benign soft tissue neoplasm which commonly affects the subungual region of the fingers. But the tumors can also arise in the other sites such as the antrum of the stomach. We are reporting a case of a glomus tumor of the stomach in a 71-year-old female patient who presented with dyspepsia. The tumor was confined to the lamina muscularis propria, it consisted of round cells with small uniform nuclei, which surrounded thin walled blood vessels. Immunohistochemistry revealed the tumor to be positive for smooth muscle actin, vimentin, calponin, h-caldesmon and negative for c-KIT, S-100, CD34, CD99, synaptophysin, chromogranin, desmin and EMA. The proliferation marker Ki-67 was positive in less than 5% of tumor cell nuclei. Glomus tumors are usually benign but malignant cases have been published. Criteria for the malignant potential of gastric glomus tumors remain poorly defined.
4 citations
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TL;DR: In the near future, the main challenge for pathologists, geneticists and oncologists will be the identification of accurate therapeutic targets, as well as mechanisms of resistance, in melanoma in the particular patient in care.
Abstract: Advanced malignant melanoma is incurable by the current means of therapy. Traditional morphological classification (nodular melanoma, lentigo maligna melanoma, nevoid melanoma etc.) does not have any significant prognostic or predictive impact. Recent advances in molecular pathogenesis and the availability of targeted therapies have produced several positive results. In the near future, the main challenge for pathologists, geneticists and oncologists will be the identification of accurate therapeutic targets, as well as mechanisms of resistance, in melanoma in the particular patient in care.
4 citations
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TL;DR: Clinical trials with further monoclonal antibodies and receptor tyrosine kinase inhibitors are recently ongoing to broaden the spectrum of possibilities of a multitargeted approach to the treatment of gastric cancer.
Abstract: Trastuzumab is a monoclonal antibody directed against the human epidermal growth factor receptor 2 (HER2). This receptor is overexpressed in approximately 20% of gastric adenocarcinomas. The overexpression is associated with a worse prognosis, but on the other hand, patients with HER2-positive cancers were shown to benefit from the addition of trastuzumab to standard chemotherapy. To begin the targeted therapy with trastuzumab, HER2 testing is now mandatory with immunohistochemistry being the primary test followed by in situ hybridization analysis of HER2 amplification in cases with equivocal immunopositivity (score 2+). The immunohistochemical HER2 scoring system has been modified to include incomplete basolateral and lateral membrane staining, and to differentiate between surgical and endoscopical samples of the tumor. Benefit from trastuzumab treatment can be expected in tumors showing an immunohistochemical score 3+, and in cases with score 2+ and a positive finding of HER2 amplification. Clinical trials with further monoclonal antibodies and receptor tyrosine kinase inhibitors are recently ongoing to broaden the spectrum of possibilities of a multitargeted approach to the treatment of gastric cancer.
4 citations
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TL;DR: Some initial observations that gene expression profiling could also contribute to clinical decision-making about the cetuximab and panitumumab treatments require further validation in prospective clinical trials before incorporation into clinical practice.
Abstract: The monoclonal antibodies panitumumab and cetuximab that target the epidermal growth factor receptor are effective in approximately 10% and 20% of EGFR expressing, chemotherapy resistant metastatic colorectal cancer patients in monotherapy and in combination with chemotherapy, respectively. The evidence that EGFR expression by immunohistochemistry does not predict clinical outcome in EGFR targeted treatment has led to an intensive search for additional predicitive biomarkers. Oncogenic activation of signalling pathways downstream of the EGFR, such as mutation of KRAS, BRAF, or PIK3CA oncogenes, or inactivation of the PTEN tumor supressor gene is central to the progression of colorectal cancer. Tumor KRAS mutation, which may be present in 35%-45% of patients with colorectal cancer, is now recognized as an important predictive marker of resistance to cetuximab or panitumumab treatment and is also widely used in clinical practice. Among tumors carrying wild-type KRAS, mutations of BRAF or PIK3CA or loss of PTEN expression may be associated with resistance to the anti-EGFR monoclonal antibody treatment. On the other hand, EGFR ligands overexpression detected in tumor tissue is a promising positive predictive marker. There are also some initial observations that gene expression profiling could also contribute to clinical decision-making about the cetuximab and panitumumab treatments. These observations require further validation in prospective clinical trials before incorporation into clinical practice.
3 citations
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TL;DR: The 3NT immunostaining was localized to endothelial cells and their close surroundings in muscle biopsies of DM and PM patients but only in those areas of tissue sections where inflammatory cell infiltrates were present.
Abstract: SUMMARY 3-nitrotyrosine (3NT) is regarded as a “footprint” of nitric oxide generation. The study aimed at documenting the presence and distribution of 3-nitrotyrosine (3NT) in muscle tissue samples from patients with idiopathic inflammatory myopathies (IIM) as well as from those with non-inflammatory myopathies to consider whether polymyositis (PM) and dermatomyositis (DM) could be distinguished based on 3NT immunohistochemistry in muscle biopsy. Cryosections prepared from muscle biopsies of 54 patients with either IIM, i.e. PM and DM, or various non-inflammatory myopathies were immunostained using monoclonal antibody against 3NT. The 3NT immunostaining was localized to endothelial cells and their close surroundings in muscle biopsies of DM and PM patients but only in those areas of tissue sections where inflammatory cell infiltrates were present. No 3NT positivity was found in tissue sections of IIM patients without inflammatory infiltrates in the studied sample as well as in muscle tissue sections of patients with non-inflammatory myopathies. However, the endothelial cells were also positive in cases of confirmed non-inflammatory myopathies with secondary lymphocytic infiltration (myodystrophies, myasthenia gravis). Despite the pathogenetic significance, the 3NT immunohistochemistry is of low diagnostic value for the differential diagnosis of IIM in muscle biopsy.
3 citations
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TL;DR: The Bethesda system for reporting thyroid cytopathology represents an important contribution to the international standardisation of cytodiagnostic reports as discussed by the authors, and the involvement of the system as a national standard is recommended.
Abstract: The newly published Bethesda system for reporting thyroid cytopathology represents an important contribution to the international standardisation of cytodiagnostic reports. The article provides translation of the diagnostic categories into Czech terminology, discusses briefly the explanatory notes in context with the postgraduate teaching and national terminology used. The involvement of the system as a national standard is recommended.
3 citations
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TL;DR: A combined approach is used to establish a more reliable diagnosis of BL and to separate grey zone lymphomas I-DLBCL/BL and DLBCL with morphological mimics of BL to start adequate treatment.
Abstract: Burkitt lymphoma (BL) is a well characterized entity. For atypical findings a term Burkitt-like lymphoma (B-LL) was applied in the past, but the interpretation of the morphological appearances was subjective and poorly reproducible. We used a combined approach (morphology using classical histological staining; immunohistochemistry-IHC; fluorescence in situ hybridization-FISH on interphase nuclei; cytogenetics) to perform a retrospective study on 39 patients diagnosed as BL and B-LL at our department in the years 1982 to 2002. By FISH we demonstrated t(8;14)(q24;q32) in 31 patients; in further two we found a break at 8q24, suggestive of a variant translocation. In three patients with the cytogenetic investigation available we confirmed the findings of FISH--two lymphomas had the t(8;14)(q24;q32), one had t(2;8)(p12;q24). IHC showed CD20, CD10, BCL-6, p53 expression, and Ki-67 antigen in > 95% of the tumor cell population in a majority of the patients. There was a group of 4 patients in whom the t(8;14)(q24;q32) or a break at 8q24 were not found (FISH). These cases were reclassified within the WHO defined grey zone subgroup of B-cell lymphoma unclassifiable with features intermediate between diffuse large cell lymphoma (DLBCL) and Burkitt lymphoma--I-DLBCL/BL. Two further cases were reclassified as DLBCL based on a combined IHC and FISH findings. A lymphoma of one of these patients had breaks at 3q27 (BCL6) and at 14q32 (IGH) suggestive of t(3;14)(q27;q32). The overall survival estimate of 33 patients with the diagnosis of BL was 54%. Most of deaths occurred within 6 months after the tumor diagnosis. The unfavorable clinical outcome appears to be associated with a strong expression of the p53 protein in the tumor cell population. Individually utilized methods in the diagnosis of BL may lead to false diagnostic conclusions. A combined approach helps to establish a more reliable diagnosis of BL and to separate grey zone lymphomas I-DLBCL/BL and DLBCL with morphological mimics of BL to start adequate treatment. I-DLBCL/BL is a non-homogenous group of lymphomas necessitating further analysis in a prospective study.
3 citations
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TL;DR: This case report emphasizes the fact that BCC, in spite of its usually "benign" biological behaviour, should never be underestimated because it may progress to the advanced stage of the disease, for which treatment is much more difficult with a larger negative impact and a significantly worse prognosis for the patient.
Abstract: Basal cell carcinoma (BCC) of the skin is generally characterised by a favourable clinical outcome. The slow and mostly local character of growth helps in its early recognition, thus the vast majority of cases are diagnosed in the early phase of disease. However, in cases of long-term neglect of clinical symptoms, certain cancers may reach huge proportions and may significantly destroy surrounding tissue. BCCs larger than 5 cm are called giant BCCs. The authors of the article present a case report of woman suffering from a giant BCC of the head with a history of 15 years of lasting growth, during which she had refused a medical examination. Finally, she was forced to go into hospital due to episodes of unconsciousness and convulsions. Clinical investigations revealed a huge ulcerating tumour in the fronto-parietal region infiltrating the skull and penetrating into the cranial cavity with compression of the brain. A surgical extirpation of the tumor-affected soft tissue and the calva was performed with plastic reconstruction of dura mater and skin. Microscopic examination of biopsy specimens confirmed a diagnosis of mixed BCC with nodular, infiltrative and metatypical features, which had completely infiltrated calva and dura mater. It was not possible to surgically remove a part of the tumour-affected bones of the left orbita, thus the patient is going to undergo local radiotherapy. This case report emphasizes the fact that BCC, in spite of its usually "benign" biological behaviour, should never be underestimated because it may progress to the advanced stage of the disease, for which treatment is much more difficult with a larger negative impact and a significantly worse prognosis for the patient.
2 citations
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TL;DR: This case, along with two additional ones reported previously, indicates that PASH with MGC in the female breast may not be associated with neurofibromatosis.
Abstract: A simultaneous finding of pseudoangiomatous stromal hyperplasia (PASH) and stromal multinucleated giant cells (MGC) in mammary tissue was previously observed in patients with type-1 neurofibromatosis, indicating that it can represent a morphologic marker for this syndrome. Here, we present PASH with MGC occurring in the left breast of a 39-years-old woman who does not have neurofibromatosis. This case, along with two additional ones reported previously, indicates that PASH with MGC in the female breast may not be associated with neurofibromatosis.
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TL;DR: Mutational analysis represents a tool to explain failure of the therapy and provides a rationale for alternative therapeutic strategies in patients with metastatic, recurrent and unresectable gastrointestinal stromal tumors.
Abstract: Targeted therapy based on the inhibition of the receptor tyrosine kinases has improved the outcome of patients with metastatic, recurrent and/or unresectable gastrointestinal stromal tumors (GIST). Activating mutations of KITand PDGFRA genes, which code for receptor tyrosine kinases, play an important role in the malignant transformation of stromal cells in the gastrointestinal tract. The response to targeted therapy is associated with the presence and type of mutations. Molecular identification of the primary mutational status became an important tool in predicting the response to therapy (sensibility/resistance). The identification of secondary mutations occurring in patients treated with targeted therapy may explain the cause of acquired, secondary resistance of GIST. In these cases, mutational analysis represents a tool to explain failure of the therapy and provides a rationale for alternative therapeutic strategies.
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TL;DR: The aim was to compare PEG-induced changes with those after the NaP preparation, and to suggest that PEG is less well tolerated because of the volume of liquid that the patient is required to drink.
Abstract: Colonoscopy is considered to be the gold standard investigation for assessing the colonic mucosa. Clearance of the entire colon is essential for an effective imaging. Given the choice of laxative regimens available, osmotic laxatives such as sodium phosphate (NaP) and polyethylene glycol (PEG) are most commonly used. NaP increases colon water content by attracting extracellular fluid reflux through the bowel wall and maintaining oral fluids in the lumen. PEG works somewhat differently. It is a high molecular weight non-absorbable macrogol polymer which is administered in a dilute electrolyte solution. As a result of the osmotic effect of the polymer, the electrolyte solution is retained in the colon, where it acts as a bowel cleanser. There is little fluid exchange across the colonic mucosal membranes. When comparing the NaP and PEG preparations, there is evidence that PEG is less well tolerated because of the volume of liquid that the patient is required to drink (1,2). However, despite better acceptability, the NaP preparation is associated with an increased incidence of electrolyte abnormalities, nausea, vomiting and anal irritation (1). It is well documented that NaP also has increased adverse effects in colonic mucosa (2–6). In our previous study published in this journal (7), mild focal mucosal edema, hyperemia and hemorrhages were found in bowel biopsies of all 42 patients after the NaP application. More pronounced lesions such as focal cryptitis, increased proliferation and apoptosis of the crypt epithelium and a focally flattened surface epithelium occurred in 5 cases (11.9 %). In two of them (4.8 %) small erosions were seen. After the publication of our study on changes after NaP (7), we have collected stepwise a series of biopsies after the PEG preparation. Our aim was to compare these PEG-induced changes with those after the NaP preparation. Our study group consisted of 40 patients (18 men and 22 women, mean age 43.6 years), who were each prepared for a colonoscopy with PEG, using currently available Fortrans (Beaufour Ipsen Pharma, Paris, France). Patients were instructed to begin drinking 500 ml of Fortrans at 2 PM the day prior to the procedure and then 200 ml every 15 minutes until completion. Thirty five patients underwent a colonoscopy for diarrhea and suspicion for microscopic colitis, and
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TL;DR: It is necessary to search for new markers which would help to more precisely select the optimal treatment for breast cancer patients.
Abstract: Detection of selected predictive markers is currently included in the standard diagnostic algorithm of breast carcinoma specimens. Despite this fact we are facing several unresolved questions and issues. Probably the most frequently discussed predictive marker in breast carcinoma is HER-2/neu. The change of criteria of positivity in 2007 brought several confusions regarding the selection of patients eligible for anti-HER2 treatment. There is a deficiency of knowledge in tumors with the discordant phenotype (a discrepancy between the results of immunohistochemistry and in situ hybridization). Even in selected HER2 positive patients is the anti-HER2 treatment effective in only 30 % of cases. Thus, we evidently have to search for new markers which would help to more precisely select the optimal treatment for breast cancer patients.
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TL;DR: The finding of amianthoid-like fibers expands the morphologic spectrum of leiomyomas and represents one of the overlapping features between le iomyoma and palisaded myofibroblastoma.
Abstract: A rare case of a gynecologic type leiomyoma with amianthoid-like fibers is presented. The 6 cm tumor was found in the uterus of a 46-year-old woman. Histologically, it contained a cellular spindle cell population with numerous eosinophilic amianthoid-like fibers. The morphology closely resembled that of palisaded "amianthoid" myofibroblastoma. Immunohistochemically, the lesion showed a smooth muscle phenotype with expression of h-caldesmon, desmin, alpha smooth-muscle actin, and with negativity for CD10 and the S100 protein. The finding of amianthoid-like fibers expands the morphologic spectrum of leiomyomas. It represents one of the overlapping features between leiomyoma and palisaded myofibroblastoma.
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TL;DR: A large number of intrapericardial tumors go undetected during prenatal diagnostics, until they are found as a cause of intrauterine death or postnatal cardiorespiratory insufficiency, as in this case report.
Abstract: Intrapericardial teratoma is a rare congenital tumor that without treatment leads to cardiac failure in either the prenatal or postnatal period. Early diagnosis and recent surgical advances can, in some cases, delay development of intrauterine symptoms and allow final treatment through a tumor resection. However, a large number of intrapericardial tumors go undetected during prenatal diagnostics, until they are found as a cause of intrauterine death or postnatal cardiorespiratory insufficiency, as in our case report. An abortion was induced in the 23rd gestational week because there was no cardiac activity detected during a routine ultrasound scan in a 35-year old woman. The tumor was found during the postmortem of the fetus.
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TL;DR: It is demonstrated that detection of the cyclin D1 mRNA level is a molecular marker in 98% of patients with MCL and the quantitative PCR-based analysis is a useful, reliable, rapid, reproducible, sensitive and specific method broadening the authors' diagnostic tools in hematopathology.
Abstract: A molecular analysis has three major roles in modern oncopathology--as an aid in the differential diagnosis, in molecular monitoring of diseases, and in estimation of the potential prognosis. In this report we review the application of the molecular analysis in a group of patients with mantle cell lymphoma (MCL). We demonstrate that detection of the cyclin D1 mRNA level is a molecular marker in 98% of patients with MCL. Cyclin D1 quantitative monitoring is specific and sensitive for the differential diagnosis and for the molecular monitoring of the disease in the bone marrow. Moreover, the dynamics of cyclin D1 in bone marrow reflects the disease development and it predicts the clinical course. We employed the molecular analysis for a precise quantitative detection of proliferation markers, Ki-67, topoisomerase IIalpha, and TPX2, that are described as effective prognostic factors. Using the molecular approach it is possible to measure the proliferation rate in a reproducible, standard way which is an essential prerequisite for using the proliferation activity as a routine clinical tool. Comparing with immunophenotyping we may conclude that the quantitative PCR-based analysis is a useful, reliable, rapid, reproducible, sensitive and specific method broadening our diagnostic tools in hematopathology. In comparison to interphase FISH in paraffin sections quantitative PCR is less technically demanding and less time-consuming and furthermore it is more sensitive in detecting small changes in the mRNA level. Moreover, quantitative PCR is the only technology which provides precise and reproducible quantitative information about the expression level. Therefore it may be used to demonstrate the decrease or increase of a tumor-specific marker in bone marrow in comparison with a previously aspirated specimen. Thus, it has a powerful potential to monitor the course of the disease in correlation with clinical data.
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TL;DR: The examination of JAK2V617F mutation in formalin-fixed paraffin-embedded biopsy specimens of patients with Ph1-negative MPN using allele-specific PCR is implemented and results in all three categories PV, ET and PMF are in agreement with earlier published data.
Abstract: Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) characterized by JAK2 mutation. The exon 14 V617F mutation is present in almost all patients with PV and in approx. 60% of patients with ET and PMF. The importance of JAK2V617F in the differential diagnostic considerations is still unclear and here the BM morphology examination still represents an important diagnostic tool. In the WHO classification of Ph1-negative MPNs, the identification of JAK2 mutations represents a major diagnostic criterion of these diseases. Therefore we decided to implement the examination of JAK2V617F mutation in formalin-fixed paraffin-embedded biopsy specimens of patients with Ph1-negative MPN using allele-specific PCR. In addition, in all JAK2 V617F negative patients with PV we sequenced the whole JAK2 exon 12. Until now we examined up to 200 patients with clinically confirmed MPN and our results in all three categories PV, ET and PMF are in agreement with earlier published data. Paraffin embedded tissues represent a valuable source of DNA which can be used in the diagnostics of both JAK2 exon 12 and exon 14 mutations. It is of particular importance if the fresh material is not available and there is a clinical and/or research utility for the performance of PCR on archival bone marrow samples with PV, ET or PMF suspicion.
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TL;DR: Examination of non-neoplastic cells of the patient's skin showed a biallelic presence of the RB1 gene, which has informational value as a prognostic factor in the case of chronic lymphocytic leukaemia.
Abstract: SUMMARY The authors report a case of a 64-year-old man with chronic lymphocytic leukaemia (CLL) diagnosed 5 years ago. Recently, the patient was admitted with a tumour of the skin in the left lumbar region. Histological and immunohistochemical examinations established the diagnosis of Merkel cell carcinoma (MCC). Electron-microscopic examination revealed the formation of spherical aggregates of intermediate-sized filaments in the perinuclear region. The coincidence of MCC and CLL is rather rare and in published cases, no cytogenetic examinations were performed. We examined the RB1 gene using the interphase FISH method. A biallelic deletion in CLL tumour cells was detected; in MCC tumour cells, biallelic deletion was found in 33 % of the cells and monoallelic deletion in 57 % of the cells. In addition, chromosome 6 trisomy and 1p36 deletion were detected. Examination of non-neoplastic cells of the patient’s skin showed a biallelic presence of the RB1 gene. According to the relevant literature, examination of the RB1 gene in CLL has informational value as a prognostic factor. The relationship between deletion of the RB1 gene and prognosis in MCC has not yet been determined and needs more research.