Agostini-Vulaj Diana, Oltavi Zoltan N, Liao Xiaoyan
Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Avenue, Box 626, Rochester, NY, 14642, USA.
Virchows Arch. 2025 Jul 23. doi: 10.1007/s00428-025-04181-8.
Gastrointestinal (GI) adenomas with distinct solid cell clusters showing squamous or neuroendocrine differentiation are interchangeably termed as "squamoid morule (SM)" or "microcarcinoid (MC)." Though considered benign, their biogenesis and malignant potential remain contentious. We reviewed 39 cases of GI neoplasms with morules to characterize their histomorphology, immunoprofile, and molecular features. The cohort included 19 women and 20 men with a median age of 65 years. Eight cases were in the upper GI tract, while 31 were colorectal. Among eight (31%) colorectal morules associated with invasion, seven maintained a bland cytomorphology and one longitudinally progressed to an undifferentiated carcinoma component across 5 years. Morphologically, 23 were arbitrarily classified as SM and 16 as MC. SM were larger (p = 0.037) and showed more single cell necrosis (p = 0.003) than MC. Immunohistochemically, both colorectal SM and MC demonstrated high frequency of expression in nuclear β-catenin (91%), CD10 (87%), CK5 (96%), INSM1 (85%), CDX2 (83%), and SATB2 (100%). SM-like morules were more likely to express p63, while the MC-like morules were more likely to express synaptophysin (p = 0.026). Ki67 was generally low (< 1%) except in two invasive cases (> 10%). Molecular analysis showed KRAS as the most common mutated gene in five of seven (71%) tested cases, followed by PIK3CA (43%) and APC (29%). The morules harbored similar or more pathogenic mutations compared to the background neoplasm. In conclusion, SM and MC in the GI tract represent a spectrum of basal stem cells with Wnt/β-catenin activation and multilineage differentiation plasticity, which can progress to malignancy in rare cases.
具有显示鳞状或神经内分泌分化的独特实性细胞簇的胃肠道(GI)腺瘤可互换地称为“鳞状桑葚体(SM)”或“微类癌(MC)”。尽管被认为是良性的,但其发生机制和恶性潜能仍存在争议。我们回顾了39例具有桑葚体的胃肠道肿瘤病例,以表征其组织形态学、免疫表型和分子特征。该队列包括19名女性和20名男性,中位年龄为65岁。8例位于上消化道,31例位于结直肠。在8例(31%)伴有浸润的结直肠桑葚体中,7例保持温和的细胞形态,1例在5年中纵向进展为未分化癌成分。形态学上,23例被任意分类为SM,16例为MC。SM比MC更大(p = 0.037),且显示更多的单细胞坏死(p = 0.003)。免疫组织化学分析显示,结直肠SM和MC在核β-连环蛋白(91%)、CD10(87%)、CK5(96%)、INSM1(85%)、CDX2(83%)和SATB2(100%)中的表达频率均较高。SM样桑葚体更可能表达p63,而MC样桑葚体更可能表达突触素(p = 0.026)。Ki67通常较低(<1%),但有2例浸润性病例(>10%)除外。分子分析显示,在7例检测病例中的5例(71%)中,KRAS是最常见的突变基因,其次是PIK3CA(43%)和APC(29%)。与背景肿瘤相比,桑葚体具有相似或更多的致病突变。总之,胃肠道中的SM和MC代表了一系列具有Wnt/β-连环蛋白激活和多谱系分化可塑性的基底干细胞,在罕见情况下可进展为恶性肿瘤。