Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Medicina (Kaunas, Lithuania) - 31 May 2023

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

Abstract excerpt

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)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Astrocytoma
Share to Brain Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Isocitrate Dehydrogenase

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 37374260
DOI: 10.3390/medicina59061056
PMCID: PMC10302001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report.PMID 37374260Read ↗

Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.Semantic proximity Read ↗

Maffucci syndrome and neoplasms: a case report and review of the literature.Semantic proximity Read ↗

<scp>IDH</scp>2 and <scp>TP</scp>53 mutations are correlated with gliomagenesis in a patient with Maffucci syndromeSemantic proximity Read ↗

Maffucci Syndrome Complicated by Giant Chondrosarcoma in the Left Ankle with an IDH1 R132C Mutation: Case ReportSemantic proximity Read ↗

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.Semantic proximity Read ↗

A case of Maffucci syndrome with a buccal hemangioma harboring a mutation in IDH1.Semantic proximity Read ↗

Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.Semantic proximity Read ↗

IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.Semantic proximity Read ↗

Supratentorial multifocal gliomas associated with Ollier disease harboring IDH1 R132H mutation: A case report.Semantic proximity Read ↗

Characteristics of gliomas in patients with somatic IDH mosaicism.Semantic proximity Read ↗

Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two SiblingsSemantic proximity Read ↗

Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.