Ranchor Ridhi, Magalhães Manuel, Rosendo Eugénia, Coelho André, Cardoso Pedro
Department of Medical Oncology, Centro Hospitalar Universitário de Santo António, Porto, PRT.
Department of Pathological Anatomy, Centro Hospitalar Universitário de Santo António, Porto, PRT.
Cureus. 2023 Dec 14;15(12):e50537. doi: 10.7759/cureus.50537. eCollection 2023 Dec.
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.
尤因肉瘤中的KIT基因突变很少见；然而，它们在其他肿瘤中更为常见，即肥大细胞增多症。我们描述了一例成年男性病例，其右手第三指近节指骨反复出现疼痛、肿胀和发红症状，持续了一年。一次核心活检提示可能为肥大细胞增多症。经过四年的反复发病和症状加重，一次切开活检显示为伴有KIT基因突变（第10外显子上的M541L）的尤因肉瘤。在2.6%的尤因肉瘤中发现了具有功能获得性的KIT基因突变。在本病例中，在先前肥大细胞增殖部位发生的尤因肉瘤中检测到KIT突变，这提出了原始病变可能发生肉瘤样演变的假说。据我们所知，目前文献中未描述类似病例。这也是第一篇描述尤因肉瘤中KIT M541L突变（第10外显子）的报告。
