Adhvaryu Vishesha V, Gurav Mamta, Deshpande Gauri, Rumde Rachana, Shetty Omshree, Sahay Ayushi, Sahu Arpita, Dasgupta Archya, Chatterji Abhishek, Gupta Tejpal, Shetty Prakash, Moiyadi Aliasgar, Epari Sridhar
Department of Pathology, ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India.
Department of Pathology (Molecular Pathology Division), Tata Memorial Hospital, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India.
Int J Surg Pathol. 2025 Oct;33(7):1605-1614. doi: 10.1177/10668969251332926. Epub 2025 Apr 30.
Medulloblastoma is uncommon and molecularly lesser known in adults than their pediatric counterparts. This study aims to describe the clinicopathological and molecular characteristics of medulloblastoma in adults. . The clinical, histopathological, and molecular features of 113 medulloblastoma patients of >18 years of age were reviewed. Molecular grouping (wingless pathway activated [WNT]-activated, sonic hedgehog activated [SHH]-activated, non-WNT/non-SHH, Group 3 and non-WNT/non-SHH, Group 4) was done by gene expression profiling. . The age-range was 19 to 59 years. The most common histoarchitecture was classic (64%), followed by desmoplastic/nodular (31%) and large cell/anaplastic (5%). The most common molecular group was SHH-activated (65%), followed by WNT-activated (14%), non-WNT/non-SHH, Group 4 (10%), and non-WNT/non-SHH, Group 3 (3%). All desmoplastic/nodular tumors were SHH-activated; while large cell/anaplastic had SHH-activated, WNT-activated and non-WNT/non-SHH, Group 3. -mutant pattern of immunophenotype was observed in 7% (3 SHH-activated; 1 WNT-activated; 1 non-WNT/non-SHH, Group 3; 2 indeterminate). Within the SHH-activated group, -mutant pattern immunophenotype was noted in 3 tumors and 1 was -amplified. In the WNT-activated group, both monosomy 6 and mutation were seen in 3 tumors and 3 each had an isolated alteration. . SHH-activated medulloblastoma is the most common group and WNT-activated is not rare in adults. Non-WNT/non-SHH, Group 3 though rare is not nonexistent in adults.
髓母细胞瘤在成人中并不常见,与儿童患者相比,其分子特征鲜为人知。本研究旨在描述成人髓母细胞瘤的临床病理和分子特征。回顾了113例年龄大于18岁的髓母细胞瘤患者的临床、组织病理学和分子特征。通过基因表达谱分析进行分子分组(翼状通路激活[WNT]激活、音猬因子激活[SHH]激活、非WNT/非SHH、3组和非WNT/非SHH、4组)。年龄范围为19至59岁。最常见的组织结构是经典型(64%),其次是促纤维增生性/结节型(31%)和大细胞/间变型(5%)。最常见的分子组是SHH激活型(65%),其次是WNT激活型(14%)、非WNT/非SHH、4组(10%)和非WNT/非SHH、3组(3%)。所有促纤维增生性/结节型肿瘤均为SHH激活型;而大细胞/间变型有SHH激活型、WNT激活型和非WNT/非SHH、3组。7%(3例SHH激活型;1例WNT激活型;1例非WNT/非SHH、3组;2例不确定)观察到免疫表型的突变模式。在SHH激活组中,3例肿瘤出现突变模式免疫表型,1例为扩增。在WNT激活组中,3例肿瘤同时出现6号染色体单体和突变,3例各有单独改变。SHH激活型髓母细胞瘤是最常见的组,WNT激活型在成人中并不罕见。非WNT/非SHH、3组虽然罕见,但在成人中并非不存在。