Walker Margaret, Folstad Matthew, Smith-Simmer Kelcy, Reinig Erica, Nadiminti Kalyan, Lovrien Lauren, Churpek Jane E, Banaszak Lauren G
Department of Medicine, University of Wisconsin-Madison, Madison, WI 53705, USA.
Oncology Genetics, University of Wisconsin Carbone Cancer Center, UW Health, Madison, WI 53792, USA.
J Hematol. 2022 Apr;11(2):71-76. doi: 10.14740/jh983. Epub 2022 Apr 12.
Isolated myeloid sarcoma is an uncommon subtype of acute myeloid leukemia associated with variable prognosis. We present the case of a previously healthy 30-year-old man presenting with chest pain and weight loss who was found to have a large mediastinal mass. Biopsy of the mass was consistent with isolated myeloid sarcoma. A somatic tumor sequencing panel revealed an T790M variant, which was later confirmed to be of germline origin. Germline T790M variants are associated with a hereditary predisposition to lung cancer, though myeloid malignancies have not yet been described. To our knowledge, this is the first reported case of myeloid sarcoma in a patient with an underlying germline T790M mutation. As somatic tumor sequencing panels become more commonplace, it is important to recognize potential germline variants in order to facilitate appropriate referral for genetic counseling, perform confirmatory genetic testing, and to develop a personalized treatment and surveillance plan for patients and their families.
孤立性髓系肉瘤是急性髓系白血病的一种罕见亚型，其预后各异。我们报告一例既往健康的30岁男性病例，该患者因胸痛和体重减轻就诊，发现有一个巨大的纵隔肿块。肿块活检结果符合孤立性髓系肉瘤。一项体细胞肿瘤测序分析显示存在T790M变异，该变异后来被证实源自种系。种系T790M变异与肺癌的遗传易感性相关，不过尚未见与髓系恶性肿瘤相关的报道。据我们所知，这是首例报道的具有潜在种系T790M突变的患者发生髓系肉瘤的病例。随着体细胞肿瘤测序分析越来越普遍，识别潜在的种系变异很重要，以便为遗传咨询进行适当转诊、开展确证性基因检测，并为患者及其家人制定个性化的治疗和监测计划。
