Zelman Sara, Russell Michael B, Hojat Amin, Pilichowska Monika, Olans Lori B, Sterling Mark J
Department of Gastroenterology and Hepatology, Tufts Medical Center, Boston, MA.
Pathology and Laboratory Medicine, Tufts Medical Center, Boston, MS.
ACG Case Rep J. 2021 Nov 29;8(11):e00689. doi: 10.14309/crj.0000000000000689. eCollection 2021 Nov.
Waldenstrom macroglobulinemia is an uncommon mature B-cell lymphoma characterized by monoclonal immunoglobulin M protein in peripheral blood and lymphoplasmacytic cells in bone marrow and/or extramedullary sites. The gastrointestinal tract is a rare site of involvement. The diagnosis is based on clinicopathologic findings, although somatic mutations, such as MYD88, can aid in the diagnosis. We present a patient with irregular stools diagnosed with Waldenstrom macroglobulinemia involving the rectosigmoid colon by histopathology and immunohistochemistry on colonic biopsies, immunoglobulin M protein in serum, clonal plasma cells in bone marrow, and MYD88 mutation in colonic and bone marrow specimens.
华氏巨球蛋白血症是一种罕见的成熟B细胞淋巴瘤,其特征为外周血中出现单克隆免疫球蛋白M蛋白,骨髓和/或髓外部位存在淋巴浆细胞。胃肠道是罕见的受累部位。诊断基于临床病理表现,尽管体细胞突变(如MYD88)有助于诊断。我们报告一名患者,其大便不规则,经结肠活检的组织病理学和免疫组织化学检查、血清免疫球蛋白M蛋白检测、骨髓中克隆性浆细胞检测以及结肠和骨髓标本中的MYD88突变检测,诊断为累及直肠乙状结肠的华氏巨球蛋白血症。