Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review

Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review

Abstract Background Constitutional mismatch repair deficiency (CMMRD) results from a biallelic germline pathogenic variant in a mismatch repair (MMR) gene. The most common CMMRD-associated malignancies are brain tumors; an accurate diagnosis is challenging when a malignant brain tumor is the only tu...

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Bibliographic Details
Main Authors: Shumpei Onishi, Fumiyuki Yamasaki, Kazuya Kuraoka, Akira Taguchi, Takeshi Takayasu, Kiwamu Akagi, Takao Hinoi
Format: Article
Language:English
Published: BMC 2023-01-01
Series:BMC Medical Genomics
Subjects:
Constitutional mismatch repair deficiency
CMMRD
Lynch syndrome
Glioblastoma
Colon cancer
Acute lymphocytic leukemia
Online Access:https://doi.org/10.1186/s12920-022-01403-9

Internet

https://doi.org/10.1186/s12920-022-01403-9

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