Spindle cell/sclerosing rhabdomyosarcoma with DCTN1::ALK fusion: broadening the molecular spectrum with potential therapeutic implications

Fung, CF; Chit, Chow; Chan, William W.‐C.; Choi, Eric W K; To, Ka Fai; Chan, John K. C.; Cheuk, Wah

doi:10.1007/s00428-022-03305-8

Cited by 3 publications

(1 citation statement)

References 19 publications

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“…[2][3][4][5][6][7] Several cases with novel genetic abnormalities including EWSR1::UBP1 fusion, DCTN1::ALK fusion, and EP300::VGLL3 fusion have been reported in spindle cell/sclerosing RMS. [8][9][10] However, the information available on spindle cell/sclerosing RMS is limited, and therefore, further research is warranted.…”

Section: Introductionmentioning

confidence: 99%

Rhabdomyosarcoma With FUS::TFCP2 Fusion in the Scalp: A Rare Case Report Depicting Round and Spindle cell Morphology

et al. 2022

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Rhabdomyosarcoma (RMS) is a nonepithelial malignant tumor that differentiates into immature skeletal muscle. It is currently classified into 4 main subtypes according to the WHO classification. However, based on clinicopathological and molecular findings, there has been an increasing number of cases that do not fit into any of these subtypes. TFCP2-rearranged RMS is a rare tumor with characteristic clinicopathological findings including a preference for the craniofacial bones, a spindle and epithelioid histomorphology, and positive immunohistochemistry for epithelial markers, ALK, and myogenic markers. In this report, we describe a rare case of RMS with FUS::TFCP2 fusion in the scalp of a 58-year-old man. Histologically, the tumor showed a biphasic pattern, with solid proliferation of round cells in the superficial areas and of spindle cells in the deep areas. Immunohistochemically, tumor cells were positive for pan keratin, myogenic markers (desmin, MYOD1, and myogenin), and ALK. Additionally, fluorescence in situ hybridization using a break-apart FUS probe revealed FUS rearrangement. RMS with FUS::TFCP2 fusion was suspected, and the fusion gene was finally confirmed by target fusion sequencing. We believe that detailed histological, immunohistochemical, and genetic findings were important for the diagnosis. The unique traits of this tumor were the biphasic histological appearance consisting of round and spindle cells and development in the skin and soft tissue.

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