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  • 2000-2004  (3)
  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Histopathology 41 (2002), S. 0 
    ISSN: 1365-2559
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Aim:  Clear cell sarcoma is a high-grade sarcoma with morphological features resembling malignant melanoma. This tumour is reported to display a characteristic distribution pattern nearly always involving the extremities. We report the first case of clear cell sarcoma of the stomach.Methods and results:  A 30-year-old male developed a huge tumour of the stomach, which at first glance could be considered as a poorly differentiated carcinoma. Immunohistochemical and ultrastructural examinations were consistent with a diagnosis of metastatic melanoma. However, cytogenetic examination revealed a t(12;22) translocation, specific for clear cell sarcoma. This was confirmed by fluorescence in-situ hybridization.Conclusion:  Making a reliable diagnosis of clear cell sarcoma of the stomach requires cytogenetic or molecular diagnostic investigations, particularly to rule out metastatic melanoma. This diagnosis avoids an unnecessary search for a primary melanoma.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1365-2559
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Synovial sarcoma with extensive calcification and ossification is a rare variant, the ultrastructural, cytogenetic and molecular analysis of which has not been reported previously.〈section xml:id="abs1-2"〉〈title type="main"〉Methods and results:A large mass in the shoulder of a 20-year-old male patient led to a deformity of the chest wall, thus supporting the hypothesis that this is a slowly growing variant of synovial sarcoma. Nevertheless, the patient developed metastatic lung disease 7 months after resection. On histology, the monophasic spindle cell proliferation was in several areas obscured by the massive calcification and ossification. Immunohistochemistry showed keratin, epithelial membrane antigen, vimentin and CD99 expression. The cytogenetic analysis revealed a single t(X;18)(p11.2; q11.2), typical for synovial sarcoma. Additional fluorescence in-situ hybridization revealed SSX2 involvement. At the ultrastructural level, prominent needle-shaped intramitochondrial crystals were present, both in the cytoplasm and in the extracellular matrix.〈section xml:id="abs1-3"〉〈title type="main"〉Conclusion:The presence of the t(X;18) with SSX2 involvement definitively characterizes this tumour as a variant of synovial sarcoma. In addition, the needle-like mitochondrial calcifications give a possible clue to the pathogenesis of the extensive metaplastic ossification and calcification.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0584
    Keywords: Childhood ALL ; t(12;21) ; ETV6/CBFA2 ; interphase FISH ; RT-PCR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ETV6/CBFA2 fusion by means of FISH, using two cosmid probes mapped on ETV6 and on CBFA2, respectively. The cut-off value (mean + three standard deviations) for positivity established on control patients was 9.3%. A comparison between FISH and molecular methods [reverse-transcriptase polymerase chain reaction/Southern blot (RT-PCR/SB)] was possible in 52 patients: 34 of 52 (65.4%) showed negative results with both approaches, and 13 of 52 (25%) were positive; 5 of 52 (9.6%) showed discrepancies: four patients who were positive using RT-PCR/SB were negative using FISH. Conversely, one patient negative when using RT-PCR/SB was positive with FISH. Further investigations on this patient, cytogenetically characterized by add(12p), showed an atypical breakpoint on ETV6, located 5′ to the common breakpoint. Compared with RT-PCR and SB, dual-color interphase FISH with the cosmid probe set proved to be highly specific but showed limited sensitivity.
    Type of Medium: Electronic Resource
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