Naslov
Superficial sarcomas with CIC rearrangement are aggressive neoplasms: A series of eight cases

Autori
Ko, Jennifer S. ; Marusic, Zlatko ; Azzato, Elizabeth M. ; Farkas, Daniel H. ; Van Arnam, John ; Seiwerth, Sven ; Fritchie, Karen ; Patel, Rajiv M. ; Rubin, Brian P. ; Billings, Steven D.

Izvornik
Journal of Cutaneous Pathology (0303-6987) 47 (2020), 6; 509-516

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
sarcoma, CIC, rearrangement

Sažetak
CIC rearranged sarcomas have significant overlap with Ewing sarcoma, are aggressive, and typically present in deep soft tissue. They most commonly have a t(4 ; 19)(q35 ; q13) with CIC-DUX4 fusion. Superficial presentation is rare. We report eight (6F, 2M ; median 45-years-old, range 14-65) superficial CIC-rearranged sarcomas, involving the extremities (n = 4), vulva (n = 2), and trunk (n = 2). The tumors were composed of nodules/sheets of round cells with necrosis and hemorrhage separated by dense hyaline bands. Tumor cells had vesicular chromatin, prominent nucleoli and frequent mitotic figures. One showed pagetoid spread. Targeted next-generation sequencing was positive for CIC- DUX4 fusion (6/6) ; fluorescence in situ hybridization (FISH) was positive for CIC rearrangement (2/3). Eight of eight had evidence of CIC-DUX4 fusion/rearrangement by molecular techniques. Immunohistochemistry was positive for CD99+ (8/8) and DUX4+ (4/4). FISH for EWSR1 rearrangement was negative (5/5). Of five patients with at least 6 months follow-up, three of five died of disease, all within 2 years of presentation. One is alive with disease at 48 months. One is disease free at 3 months. Superficial CIC-rearranged sarcomas should be considered in cases exhibiting features reminiscent of Ewing sarcoma, but with increased pleomorphism and/or geographic necrosis. In contrast to superficial Ewing sarcomas, superficial CIC-rearranged sarcomas are aggressive.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

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