Case report: Oligodendroglioma, IDH-mutant and 1p/19q-codeleted, associated with a germline mutation in PMS2

Merchant, Mythili; Raygada, Margarita; Pang, Ying; Quezado, Martha; Xi, Liqiang; Kim, Jung; Tyagi, Manoj; Abdullaev, Zied; Kim, Olga; Sergi, Zach; Pillai, Tina; Ozer, Byram H.; Zaghloul, Kareem A.; Heiss, John D.; Armstrong, Terri S.; Gilbert, Mark R.; Aldape, Kenneth; Wu, Jing

doi:10.3389/fonc.2022.954879

Cited by 3 publications

(2 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Nevertheless, in a few cases, the occurrence of primary brain tumors is probably related to hereditary cancer susceptibility syndromes, such as LS, despite the low incidence (4,(11)(12)(13). The accurate progression of DNA replication depends on the MMR system, which plays a significant role in recognizing and repairing DNA mismatches.…”

Section: Discussionmentioning

confidence: 99%

A case report: Gliosarcoma associated with a germline heterozygous mutation in MSH2

Wang,

Zhang

2024

Front. Neurol.

View full text Add to dashboard Cite

Gliosarcoma is a rare subtype of glioblastoma (GBM) with a shorter medical history and a worse prognosis compared to other Grade 4 gliomas. Most gliosarcomas are sporadic, but it is undeniable that a small percentage are linked to germline mutations and several inherited cancer susceptibility syndromes, including Lynch Syndrome (LS). The authors present a case of a primary mismatch repair-deficient gliosarcoma in LS. A 54-year-old Chinese male patient was admitted to the hospital with a history of facial asymmetry for over 1 month and right temporo-occipital pain for 5 days. Head MRI revealed a complex mass lesion in the right frontoparietal region, consisting of cystic and solid components. The patient’s history of colon malignancy and family history of rectal carcinoma were noteworthy. Postoperative pathology indicated the presence of gliosarcoma with high-frequency microsatellite instability (MSI-H) and mismatch repair deficiency (MMRD). Further genetic testing results confirmed a germline heterozygous mutation in MSH2, which is considered the gold standard for diagnosing LS. This case report enriches the existing literature on germline MSH2 mutations and gliosarcomas. It highlights the importance for neurosurgeons to consider possible hereditary disorders when treating patients with a history of concurrent tumors outside the nervous system. Genetic testing is crucial for further identification of such disorders.

show abstract

Section: Discussionmentioning

confidence: 99%

A case report: Gliosarcoma associated with a germline heterozygous mutation in MSH2

Wang,

Zhang

2024

Front. Neurol.

View full text Add to dashboard Cite

show abstract

“…In many reported cases, patients with LS and glioma received temozolomide despite the theoretical risks, achieving durable responses in some patients. 55,56 Hence, there are no formal guidelines suggesting that alkylating agents are contraindicated for patients with LS.…”

Section: Ls Constitutional Mismatch Repair Deficiency and Turcot Synd...mentioning

confidence: 99%

Therapeutic Strategies for Gliomas Associated With Cancer Predisposition Syndromes

Lam,

Kamiya-Matsuoka,

Slopis

et al. 2024

JCO Precis Oncol

View full text Add to dashboard Cite

PURPOSE The purpose of this article was to provide an overview of syndromic gliomas. DESIGN The authors conducted a nonsystematic literature review. RESULTS Cancer predisposition syndromes (CPSs) are genetic conditions that increase one's risk for certain types of cancer compared with the general population. Syndromes that can predispose one to developing gliomas include neurofibromatosis, Li-Fraumeni syndrome, Lynch syndrome, and tuberous sclerosis complex. The standard treatment for sporadic glioma may involve resection, radiation therapy, and/or alkylating chemotherapy. However, DNA-damaging approaches, such as radiation and alkylating agents, may increase the risk of secondary malignancies and other complications in patients with CPSs. In some cases, depending on genetic aberrations, targeted therapies or immunotherapeutic approaches may be considered. Data on clinical characteristics, therapeutic strategies, and prognosis of syndromic gliomas remain limited. CONCLUSION In this review, we provide an overview of syndromic gliomas with a focus on management for patients with CPSs and the role of novel treatments that can be considered.

show abstract

Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous system

Renovanz

Kurz

Rieger

et al. 2023

Neuro-Oncology Advances

View full text Add to dashboard Cite

Background The clinical utility of molecular profiling and targeted therapies for neuro-oncology patients outside of clinical trials is not established. We aimed at investigating feasibility and clinical utility of molecular profiling and targeted therapy in adult patients with advanced tumors in the nervous system within a prospective observational study. Methods MTB@ZPM (NCT03503149) is a prospective observational precision medicine study for patients with advanced tumors. After inclusion of patients, we performed comprehensive molecular profiling, formulated ranked biomarker-guided therapy recommendations based on consensus by the molecular tumor board (MTB) and collected prospective clinical outcome data. Results Here, we present initial data from 661 adult patients with tumors of the nervous system enrolled by 31 December 2021. Of these, 408 patients were presented at the MTB. Molecular-instructed therapy recommendations could be made in 380/408 (93.1%) cases and were prioritized by evidence levels. Therapies were initiated in 86/380 (22.6%) cases until data cutoff. We observed a progression-free survival (PFS) ratio > 1.3 in 31.3% of patients. Conclusions Our study supports the clinical utility of biomarker-guided therapies for neuro-oncology patients and indicates clinical benefit in a subset of patients. Our data might inform future clinical trials, translational studies and even clinical care.

show abstract

Case report: Oligodendroglioma, IDH-mutant and 1p/19q-codeleted, associated with a germline mutation in PMS2

Cited by 3 publications

References 25 publications

A case report: Gliosarcoma associated with a germline heterozygous mutation in MSH2

A case report: Gliosarcoma associated with a germline heterozygous mutation in MSH2

Therapeutic Strategies for Gliomas Associated With Cancer Predisposition Syndromes

Clinical outcome of biomarker-guided therapies in adult patients with tumors of the nervous system

Contact Info

Product

Resources

About