隐匿性心肌受累的致命性成人 T 细胞淋巴瘤中的新型突变。
Novel Mutations in a Lethal Case of Lymphomatous Adult T Cell Lymphoma with Cryptic Myocardial Involvement.
机构信息
Pathology and Laboratory Service, Veterans Affairs Medical Center, 50 Irving Street, NW, Washington, DC 20422, USA.
Department of Pathology, George Washington University, Washington, DC 20037, USA.
出版信息
Curr Oncol. 2021 Feb 6;28(1):818-824. doi: 10.3390/curroncol28010079.
The autopsy of a 65-year-old diabetic African American male revealed significant left myocardial involvement by adult T-cell leukemia/lymphoma (ATLL) despite normal pre-mortem fluorodeoxyglucose (FDG) uptake by positron emission tomography/computed tomography (PET/CT). Due to pre-existing diabetic cardiomyopathy with reduced ejection fraction (EF) and compatible imaging studies, cardiac lymphomatous involvement was not suspected. While peripheral blood was negative for leukemia, next-generation sequencing of a lymph node revealed at least eight novel mutations (AXIN1, R712Q, BARD1 R749K, CTNNB1 I315V, CUX1 P102T, DNMT3A S199R, FGFR2 S431L, LRP1B Y2560C and STAG2 I771M). These findings underscore a diagnostic pitfall in a rare lymphomatous variant of ATLL infiltrating myocardium and contribute to its molecular characterization.
对一名 65 岁的糖尿病非裔美国男性进行尸检，尽管正电子发射断层扫描/计算机断层扫描 (PET/CT) 显示氟脱氧葡萄糖 (FDG) 摄取正常，但发现其左心肌明显受成人 T 细胞白血病/淋巴瘤 (ATLL) 累及。由于存在糖尿病性心肌病，射血分数 (EF) 降低，且影像学检查结果相符，因此未怀疑存在心脏淋巴瘤累及。虽然外周血未检出白血病，但对淋巴结的下一代测序显示至少有八种新突变 (AXIN1、R712Q、BARD1 R749K、CTNNB1 I315V、CUX1 P102T、DNMT3A S199R、FGFR2 S431L、LRP1B Y2560C 和 STAG2 I771M)。这些发现强调了在罕见的累及心肌的 ATLL 淋巴瘤变体中存在诊断陷阱，并有助于其分子特征的描述。
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