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

• Main Authors: Shumpei Onishi (Author), Fumiyuki Yamasaki (Author), Kazuya Kuraoka (Author), Akira Taguchi (Author), Takeshi Takayasu (Author), Kiwamu Akagi (Author), Takao Hinoi (Author)
• Format: Book
• Published: BMC, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...