What question did this study set out to answer?

This research aims to enhance understanding of MBD4-associated neoplasia syndrome by presenting additional patient cases and associated tumors.

May 10, 2026Open Access

Biallelic germline MBD4 mutations predispose to colorectal polyposis, hypermutated AML, and schwannomas

Key Points

This research aims to enhance understanding of MBD4-associated neoplasia syndrome by presenting additional patient cases and associated tumors.
Case series involving four patients from three families with MBD4 germline mutations.
Focus on clinical features including colorectal polyposis, acute myeloid leukemia, schwannomas, and thyroid cancer.
Identified four new patient cases with MBD4-associated neoplasia syndrome, increasing the total reported cases by 27%.
Highlighted additional clinical features, such as schwannomas and thyroid cancer, previously less described.

Abstract

Biallelic pathogenic variants in the MBD4 gene have recently been associated with an autosomal recessive cancer predisposition syndrome deemed "MBD4-associated neoplasia syndrome (MANS)". Early reports of individuals with MANS highlight the propensity to develop young onset colorectal polyposis and hyper-mutated acute myeloid leukemia (AML). In the following case series, we present four patients with MANS from three families with polyps and AML, as well as additional features previously less described, such as schwannoma and thyroid cancer. This series increases the total number of reported cases by 27%, with the intention of achieving a more robust understanding of the full phenotypic spectrum of MANS.

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Cite This Study

Cooper et al. (Fri,) studied this question.

synapsesocial.com/papers/6a00205ec8f74e3340f9b4eb https://doi.org/https://doi.org/10.1007/s10689-026-00566-z

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