Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0268596 (EMA)
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examination. The patient died 10 months after surgery. Histologically, the tumor was composed of predominantly large epithelioid cells with foci of anaplasia mimicking metastatic carcinoma. Immunohistochemically, the tumor cells stained with anti-cytokeratin, EMA, desmin, and NSE antisera. Electron microscopy showed secretory lumina, desmosomes, cell processes with microtubules and electron-dense granules, and focal whorls of intermediate filaments. Reverse transcriptase-polymerase chain reaction performed on paraffin block-retrieved tissue demonstrated the EWS/WT-1 fusion transcript characteristic of the t(11;22)(p13;q12). This case illustrates a less common histological pattern of DSRCT, i.e., diffuse large cells, thus supporting the view that this tumor presents a wider morphological spectrum than that previously recognized.
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PMID:Desmoplastic small round-cell tumor: a case report on the large cell variant with immunohistochemical, ultrastructural, and molecular genetic analysis. 1107 72

Only two karyotypes of perineurioma have previously been reported, 46XX,del(10)(q22q24),der(10),del(22)(q11-12q?)/47, idem,+der(10) (in a sclerosing perineurioma of the finger) and 45,XX,add(14)(p13),-22,add(22)(q11.2) (in an intraneural perineurioma). We investigated the clinicopathologic and cytogenetic findings in four consecutive perineuriomas in children, including two small (< or =1 cm) digital sclerosing perineuriomas, a 2-cm intraneural perineurioma, and a 16-cm abdominal soft tissue perineurioma. All lesions showed plump perineurial cells in a complex whorled configuration. Immunohistochemical (strong EMA immunostaining in all cases) and ultrastructural (in three of three lesions examined) evidence of perineurial differentiation was present. The sclerosing perineuriomas showed 46,XY,t(2;10)(p23;q24) and 47,XX,add(3)(q23),add(6)(q21),-5,-9,-10,-22,+mar1,+mar2,+mars; the intraneural tumor showed 46,XX,add(2)(q11.2),add(3)(q12); and the abdominal soft tissue perineurioma showed 46,XX,t(8;9)(q13;q22). Metaphase FISH analysis for an ALK gene rearrangement in the sclerosing perineurioma with t(2;10) was negative; the ALK signal remained on the der(2). We conclude that perineuriomas display mostly simple karyotypes, characterized by one or few chromosomal rearrangements or numerical changes. In conjunction with the previously published sclerosing perineurioma karyotypes, the findings of chromosome 10 aberrations, t(2;10)(p23;q24) and monosomy 10 in two sclerosing perineuriomas, indicate that rearrangements and/or deletions of 10q are a consistent finding in this variant of perineurioma. The findings also expand previous assertions that chromosome 22 abnormalities are pathogenetic in perineurioma and suggest that diverse genetic tumorigenic mechanisms may exist, possibly depending on the subtype.
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PMID:Cytogenetic aberrations in perineurioma: variation with subtype. 1609 5

The purpose of this study was to perform clinicopathological and immunohistochemical analysis and to investigate the Ewing sarcoma gene (EWS)-Wilms' tumor suppressor gene (WT1) fusion within desmoplastic small round cell tumors (DSRCTs). Histology slides and clinical data were reviewed for four patients with DSRCT. A variety of immunohistochemical staining was performed. Fluorescence in situ hybridization (FISH) was performed to detect the EWS-WT1 fusion transcripts resulting from the chromosomal translocation t(11;22)(p13;q12). The patients consisted of four males aged from 26 to 52 years old (mean, 33.5). In three of these patients, the tumors were situated in the abdominal cavity and the tumor from the other patient was located in the pelvic cavity. The tumors were 8-15 cm in diameter (mean tumor diameter, 13), solid and gray-white, with an appearance of nodosity or sublobes, and hemorrhage or necrosis was observed. Microscopically, the tumors consisted of small round cell nests of unequal size. Hyperplastic and thick fibrous connective tissue surrounding the neoplastic cell nests was present in all cases. The tumor nuclei were hyperchromatic and contained inconspicuous nucleoli with a high level of karyokinesis. Immunohistochemical staining revealed diffuse and strong staining for CK, vimentin, desmin and CAM5.2 in all cases. Certain cases also expressed WT-1, EMA, NSE, CD56, CD99 and CK5/6. Staining was negative for myogenin, MyoD1, calretinin, CD117, CD34, HMB45 and CEA. EWS-WT1 fusion transcripts were detected in 3 out of 4 cases, but not in any other tumor types studied as controls using paraffin-embedded tissue by FISH. DSRCT is a highly maligant tumor occuring predominantly in the abdominal or pelvic cavity of young males with multiphenotypic differentiation. Basic morphological features, clinical manifestations and the detection of the EWS-WT1 fusion transcript within the tumor aid the recognition and diagnosis of the tumor.
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PMID:Clinicopathological investigation of four cases of desmoplastic small round cell tumor. 2374 Dec 44

Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. We describe a case of DSRCT with an atypical immunohistochemical profile and rhabdoid-like tumor cells on electron microscopy. In the present case, the neoplastic cells were positive only for vimentin, desmin (cytoplasmic membranous pattern) and CD56, and negative for smooth muscle actin, synaptophysin, CD117, CD45, myogenin, CAM5.2, pancytokeratin, WT1, EMA, CD99, neurofilament, CD34 and p53. Ki67 showed a low proliferative activity. Electron microscopy showed focal rhabdoid differentiation. However, INI-1 (SNF-5/BAF47) demonstrated preservation of nuclear positivity in the neoplastic cells. Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.
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PMID:Desmoplastic small round cell tumor with atypical immunohistochemical profile and rhabdoid-like differentiation. 2513 49

NUT carcinoma (NC) shows very aggressive clinical behavior, occurs predominantly in the thorax and head and neck region of children and adults, and is defined by the presence of NUT (aka NUTM1) rearrangement, mostly BRD4-NUTM1 fusion resulting from t(15;19)(q13; p13.1). So-called "NUT variants" harbor alternate fusions between NUTM1 and BRD3, NSD3, ZNF532, or unknown partners. Rare cases of pediatric tumors with CIC-NUTM1 fusion were recently reported in somatic soft tissue, brain, and kidney. However, such cases have not been identified in adult patients and the presence of a fusion between CIC, characteristic of CIC-rearranged sarcoma, and NUTM1-a defining feature of NC-poses a diagnostic challenge. We herein report a case of malignant epithelioid neoplasm with myoepithelial features harboring CIC-NUTM1 fusion arising in soft tissue of the head in a 60-year-old man. Immunohistochemistry revealed strong expression of NUT, but only weak ETV4 staining and negativity for keratins, EMA, p40, CD99, and WT1. SMARCB1 expression was retained. Fluorescence in situ hybridization and targeted next-generation sequencing identified a CIC-NUTM1 fusion resulting from t(15;19)(q14;q13.2). In light of morphologic features that overlap with those of NC from typical anatomical sites we have seen previously, the tumor was best classified as falling within the NC spectrum rather than CIC-associated sarcoma. This case highlights the emerging diagnostic challenges generated by newly detected gene fusions of unknown clinical and biologic significance. Careful integration of cytogenetic, molecular, and immunohistochemical findings with morphologic appearances in the diagnostic workup of undifferentiated neoplasms is essential.
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PMID:CIC-NUTM1 fusion: A case which expands the spectrum of NUT-rearranged epithelioid malignancies. 2970 Aug 87