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Superficial sarcomas with CIC rearrangement are aggressive neoplasms: A series of eight cases
Author(s) -
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.
Publication year - 2020
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.13656
Subject(s) - sarcoma , cd99 , pathology , immunohistochemistry , gene rearrangement , fluorescence in situ hybridization , pleomorphism (cytology) , biology , medicine , vimentin , chromosome , gene , biochemistry
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.