Extraskeletal Ewing's Sarcoma of the Little Finger, a rare case

Akther, Md. Jawed; Kumar, Lalit; Shaikh, Shameem Unnisa

doi:10.15761/gos.1000139

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2023

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“…Ewing sarcoma is a rare solid tumor, with the majority of cases occurring in bone (15%-20% of cases develop in soft tissues) [ 1 ]. It corresponds to the second most common bone neoplasm that mainly occurs in children and young adults, especially in the second decade of life [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Ewing Sarcoma Developed at the Site of Previous Mast Cell Proliferation

Ranchor,

Magalhães,

Rosendo

et al. 2023

Cureus

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KIT gene mutations in Ewing sarcomas are rare; however, they are much more frequent in other neoplasms, namely mastocytosis. We describe a case of an adult male with a one-year duration of recurrent episodes of pain, swelling, and redness on the proximal phalanx of the third finger of his right hand. A core biopsy suggested a possible mastocytosis. After four years of recurrent episodes and worsening symptoms, an incisional biopsy revealed an Ewing sarcoma with a KIT gene mutation (M541L, on exon 10). KIT gene mutations with gain-of-function were identified in 2.6% of Ewing sarcomas. In this case, the detection of a KIT mutation in an Ewing sarcoma developed at the site of previous mast cell proliferation raises the hypothesis of a possible sarcomatous evolution of the original lesion. To the best of our knowledge, similar cases are not described in the current literature. This is also the first report describing the KIT M541L mutation (exon 10) in Ewing sarcoma.

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Section: Introductionmentioning

confidence: 99%