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.
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。
