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一项多机构的新型、复发性 TRIM24::MET 融合驱动的婴儿型大脑半球神经胶质瘤的系列研究揭示了显著的临床病理异质性。

A multi-institutional series of a novel, recurrent TRIM24::MET fusion-driven infant-type hemispheric glioma reveals significant clinico-pathological heterogeneity.

机构信息

Department of Hematology and Oncology, University Children's Hospital Tübingen, Tübingen, Germany.

Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.

出版信息

Acta Neuropathol Commun. 2024 Jun 21;12(1):101. doi: 10.1186/s40478-024-01817-9.

Abstract

Within the past decade, incremental integration of molecular characteristics into the classification of central nervous system neoplasms increasingly facilitated precise diagnosis and advanced stratification, beyond potentially providing the foundation for advanced targeted therapies. We report a series of three cases of infant-type hemispheric glioma (IHG) involving three infants diagnosed with neuroepithelial tumors of the cerebral hemispheres harboring a novel, recurrent TRIM24::MET fusion. Histopathology showed glial tumors with either low-grade or high-grade characteristics, while molecular characterization found an additional homozygous CDKN2A/B deletion in two cases. Two patients showed leptomeningeal dissemination, while multiple supra- and infratentorial tumor manifestations were found in one case. Following subtotal resection (two cases) and biopsy (one case), treatment intensity of adjuvant chemotherapy regimens did not reflect in the progression patterns within the reported cases. Two patients showed progression after first-line treatment, of which one patient died not responding to tyrosine kinase inhibitor cabozantinib. As the detection of a recurrent TRIM24::MET fusion expands the spectrum of renowned driving fusion genes in IHG, this comparative illustration may indicate a distinct clinico-pathological heterogeneity of tumors bearing this driver alteration. Upfront clinical trials of IHG promoting further characterization and the implementation of individualized therapies involving receptor tyrosine kinase inhibition are required.

摘要

在过去的十年中,分子特征逐渐被纳入中枢神经系统肿瘤的分类中,这使得精确诊断和高级分层变得更加容易,并且可能为先进的靶向治疗奠定了基础。我们报告了三例婴儿型大脑半球胶质瘤(IHG)的病例,这三例婴儿均被诊断为大脑半球神经上皮肿瘤,存在一种新的、反复出现的 TRIM24::MET 融合。组织病理学显示为低级别或高级别特征的神经胶质瘤,而分子特征在两个病例中发现了另一个同源性 CDKN2A/B 缺失。两个患者出现了软脑膜播散,而一个患者则表现出多个幕上和幕下肿瘤。在接受次全切除(两例)和活检(一例)后,辅助化疗方案的治疗强度并没有反映在报告病例的进展模式中。两名患者在一线治疗后出现进展,其中一名患者对酪氨酸激酶抑制剂卡博替尼无反应而死亡。由于反复出现的 TRIM24::MET 融合的检测扩大了 IHG 中著名驱动融合基因的范围,这种比较说明可能表明携带这种驱动改变的肿瘤具有明显的临床病理异质性。需要进行 IHG 的临床试验,以进一步进行特征描述和实施涉及受体酪氨酸激酶抑制的个体化治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80fd/11191198/7dbeea61d9ab/40478_2024_1817_Fig1_HTML.jpg

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