A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report

Ashirov, Nurali; Mammadinova, Iroda; Moldabekov, Aidos; Zhetpisbaev, Berik; Teltayev, Daniyar; Ryskeldiyev, Nurzhan; Akshulakov, Serik

doi:10.3390/medicina59061056

Open AccessCase Report

A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report

by

Nurali Ashirov

¹

,

Iroda Mammadinova

^1,*

,

Aidos Moldabekov

²,

Berik Zhetpisbaev

³,

Daniyar Teltayev

¹,

Nurzhan Ryskeldiyev

² and

Serik Akshulakov

^1,2

¹

Minimal Invasive Neurosurgery Department, National Centre for Neurosurgery, Astana 010000, Kazakhstan

²

Brain Neurosurgery Department, National Centre for Neurosurgery, Astana 010000, Kazakhstan

³

Department of Pathology, National Centre for Neurosurgery, Astana 010000, Kazakhstan

^*

Author to whom correspondence should be addressed.

Medicina 2023, 59(6), 1056; https://doi.org/10.3390/medicina59061056

Submission received: 28 March 2023 / Revised: 14 May 2023 / Accepted: 25 May 2023 / Published: 31 May 2023

(This article belongs to the Special Issue Advances in Cancer Therapy from Research to Clinical Practice—Surgical, Molecular or Systemic Management of Cancer)

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Abstract

Background: Maffucci syndrome is a rare genetic disorder associated with the development of multiple enchondromas and soft tissue cavernous hemangiomas, as well as an increased risk of malignant tumors. Case Description: Here we report a case of Maffucci syndrome in a patient who presented with a giant left frontal lobe tumor. Molecular genetic analysis of the tumor revealed an isocitrate dehydrogenase (IDH) mutation p.R132H (c.395C>A) mutation in the IDH1 gene and a heterozygous duplication of the CDKN2A genes. Conclusions: The presence of an IDH1 mutation is notable because this mutation is frequently seen in glial tumors and other neoplasms, and its co-occurrence with Maffucci syndrome may represent a novel risk factor for the development of gliomas. This case underscores the importance of genetic testing in patients with Maffucci syndrome who present with central nervous system tumors, as well as the need for further research to understand the relationship between IDH1 mutations and the development of gliomas in this population.

Keywords: astrocytoma; IDH-mutation; multiple enchondroma; Maffucci syndrome

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MDPI and ACS Style

Ashirov, N.; Mammadinova, I.; Moldabekov, A.; Zhetpisbaev, B.; Teltayev, D.; Ryskeldiyev, N.; Akshulakov, S. A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report. Medicina 2023, 59, 1056. https://doi.org/10.3390/medicina59061056

AMA Style

Ashirov N, Mammadinova I, Moldabekov A, Zhetpisbaev B, Teltayev D, Ryskeldiyev N, Akshulakov S. A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report. Medicina. 2023; 59(6):1056. https://doi.org/10.3390/medicina59061056

Chicago/Turabian Style

Ashirov, Nurali, Iroda Mammadinova, Aidos Moldabekov, Berik Zhetpisbaev, Daniyar Teltayev, Nurzhan Ryskeldiyev, and Serik Akshulakov. 2023. "A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report" Medicina 59, no. 6: 1056. https://doi.org/10.3390/medicina59061056

APA Style

Ashirov, N., Mammadinova, I., Moldabekov, A., Zhetpisbaev, B., Teltayev, D., Ryskeldiyev, N., & Akshulakov, S. (2023). A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report. Medicina, 59(6), 1056. https://doi.org/10.3390/medicina59061056

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A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report

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