{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:43:39Z","timestamp":1786977819113,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:00:00Z","timestamp":1639180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes & Cancer"],"published-print":{"date-parts":[[2022,4]]},"abstract":"Abstract<\/jats:title>\n \n Composite hemangioendothelioma (CHE) displaying neuroendocrine differentiation is a rare histologic variant that is often mistaken for angiosarcoma, having a predilection for visceral locations and being associated with an aggressive clinical course. Their pathogenesis is still evolving, with only two cases to date from separate studies reporting a recurrent\n PTBP1\u2010MAML2<\/jats:italic>\n fusion. Herein, we report two new cases of neuroendocrine CHE harboring\n PTBP1\u2010MAML2<\/jats:italic>\n fusions occurring in two elderly patients (70\u2010year\u2010old male and 71\u2010year\u2010old female), both involving neck lymph nodes. The first case presented with multifocal cervical lymphadenopathy, while the second case occurred unifocally in an enlarged neck lymph node. Histologically, the tumors displayed heterogenous architectural patterns with areas reminiscent of benign cavernous hemangioma, retiform hemangioendothelioma, epithelioid hemangioendothelioma, and angiosarcoma. Cytologically, the cells were monotonous with round to ovoid nuclei, open to fine chromatin, scant to moderate cytoplasm, and frequent vacuolization. In addition, the first case showed focal solid areas of large epithelioid cells with severe nuclear atypia, enlarged nuclei and prominent nucleoli, resembling epithelioid angiosarcoma. Tumor cells were diffusely positive for vascular markers and focally positive for synaptophysin. In both cases, a next\u2010generation sequencing fusion panel confirmed an in\u2010frame fusion between\n PTBP1<\/jats:italic>\n exon 10 and\n MAML2<\/jats:italic>\n exon 2. One case with clinical follow\u2010up showed stable recurrent disease and metastatic lung deposits following treatment. Both patients were alive at 3\u2009months and 1 year following initial diagnosis. Our findings lend further support to classifying CHE with\n PTBP1\u2010MAML2<\/jats:italic>\n fusions as a distinct variant of CHE with unique clinicopathologic features, including neuroendocrine features.\n <\/jats:p>","DOI":"10.1002\/gcc.23017","type":"journal-article","created":{"date-parts":[[2021,12,4]],"date-time":"2021-12-04T03:17:18Z","timestamp":1638587838000},"page":"187-193","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Recurrent\n \n PTBP1::MAML2<\/i>\n <\/scp>\n fusions in composite hemangioendothelioma with neuroendocrine differentiation: A report of two cases involving neck lymph nodes"],"prefix":"10.1002","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1139-2914","authenticated-orcid":false,"given":"Josephine K.","family":"Dermawan","sequence":"first","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William H.","family":"Westra","sequence":"additional","affiliation":[{"name":"Department of Pathology Icahn School of Medicine at the Mount Sinai Hospital New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9717-8205","authenticated-orcid":false,"given":"Cristina R.","family":"Antonescu","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,12,11]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"WHO classification of tumours of soft tissue and bone. 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