Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndrome

IF 1.4 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics Pub Date : 2025-02-10 DOI:10.1016/j.cancergen.2025.01.009

Lauren R. Desrosiers-Battu , John H. Lee , Izabela Tarasiewicz , Andrea R. Gilbert , Eva M Galvan , Achint K. Singh , Angshumoy Roy , George Miles , Jacquelyn Reuther , Donna M. Muzny , Bo Yuan , Shashikant Kulkarni , Christine Eng , Sarah Scollon , Shawn Gessay , Amy L. McGuire , D. Williams Parsons , Gail E. Tomlinson , Sharon E. Plon , Shafqat Shah

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引用次数: 0

Abstract

Meningiomas are the most common primary brain tumors in adults but much less frequent in children. Many subtypes exist, including anaplastic (malignant) meningioma, which accounts for less than 20% of pediatric tumors. Meningiomas can arise in association with cancer predisposition syndromes due to germline variants in genes such as NF2, MEN1 and SMARCE1. This report describes a 6-year-old boy diagnosed with anaplastic meningioma who was treated with surgery and focal radiation therapy. The family consented to participate in the Texas KidsCanSeq clinical genomics study. Analysis of germline and tumor samples detected a single germline finding of a CDKN1B pathogenic frameshift variant associated with Multiple Endocrine Neoplasia Type 4 (MEN4) without somatic loss of the other allele. Tumor analysis revealed a YAP1::MAML2 fusion, which has been previously reported in pediatric meningiomas not associated with NF2. YAP1::MAML2 fusion is a known driver for development of meningioma, but the role of the germline CDKN1B variant in the absence of a tumor second hit is unclear. This case highlights the importance of performing combined tumor and germline molecular genetic analysis of rare tumors to help clarify the risk of development of cancer in patients with rare cancer predisposition syndromes.

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来源期刊

Cancer Genetics ONCOLOGY-GENETICS & HEREDITY

CiteScore

3.20

自引率

5.30%

发文量

167

审稿时长

27 days

期刊介绍： The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.