کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4133536 1271421 2014 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Sclerosing epithelioid fibrosarcoma presenting as intraabdominal sarcomatosis with a novel EWSR1-CREB3L1 gene fusion
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی آسیب‌شناسی و فناوری پزشکی
پیش نمایش صفحه اول مقاله
Sclerosing epithelioid fibrosarcoma presenting as intraabdominal sarcomatosis with a novel EWSR1-CREB3L1 gene fusion
چکیده انگلیسی

SummaryWe report a case of intraabdominal sclerosing epithelioid fibrosarcoma (SEF) with a t (11;22)(p11.2;q12.2) Ewing sarcoma breakpoint region 1–cAMP-responsive element-binding protein 3–like 1 translocation. A 43-year old man presented with massive ascites and shortness of breath. Imaging studies revealed a large mesenteric-based mass with extensive omental/peritoneal disease. After resection and cytoreductive surgery, the tumor recurred with metastasis to the lungs; the patient is still alive with disease. Histologically, there was a uniform population of epithelioid cells arranged in cords and nests, embedded in a dense collagenous matrix; no areas of low-grade fibromyxoid sarcoma were identified. All immunohistochemical markers were nonreactive. Fluorescence in situ hybridization studies showed rearrangement of Ewing sarcoma breakpoint region 1. Genomic profiling by clinical grade next-generation sequencing revealed a fusion gene between intron 11 of Ewing sarcoma breakpoint region 1 (22q12.2) and intron 5 of cAMP-responsive element-binding protein 3–like 1 (11p11.2). This is the first report of “pure” or true SEF presenting as intraabdominal sarcomatosis with confirmation of the recently described unique Ewing sarcoma breakpoint region 1–cAMP-responsive element-binding protein 3–like 1 gene fusion in SEF without areas of low-grade fibromyxoid sarcoma.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Human Pathology - Volume 45, Issue 10, October 2014, Pages 2173–2178
نویسندگان
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