ReviewBMC research notes2016
Maffucci syndrome and neoplasms: a case report and review of the literature.
Review in BMC research notes, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Sarcomas of the sellar region: a systematic review.Pituitary · 2021Pooled it
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- A rare case of angiosarcoma of the ureter.Discover oncology · 2026Article
- Defining the Vascular Anomalies in Maffucci Syndrome: A Systematic Review.Plastic and reconstructive surgery. Global open · 2026Article
- Enchondromatosis of Both Hands With Possible Skull Bone Involvement: An Extremely Rare Condition in Adults.Cureus · 2025Review
- A journey with Maffucci syndrome: From skull base chondrosarcoma to multiorgan management: A case report and literature review.Radiology case reports · 2025Article
- Blue Subcutaneous Nodules in a Young Service Member.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2025Article
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- The Utility of PET/CT for the Diagnosis of Periosteal Chondrosarcoma in a Patient With Maffucci's Syndrome.Cureus · 2023Article
- A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report.Medicina (Kaunas, Lithuania) · 2023Article
- Article
- Maffucci syndrome: Case report and review of diagnostic signs of the rare disease.Radiology case reports · 2022Article
- Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.World journal of surgical oncology · 2022Article
- A Unique Association: Maffucci Syndrome and Cardiac PathologyAnatolian journal of cardiology · 2022Article
- Update on the imaging features of the enchondromatosis syndromes.Skeletal radiology · 2022Review
- Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome.Hereditas · 2022Article
- Monomelic Maffucci syndrome.BMJ case reports · 2021Article
- Active DNA demethylation-The epigenetic gatekeeper of development, immunity, and cancer.Advanced genetics (Hoboken, N.J.) · 2021Review
- Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature.American journal of medical genetics. Part A · 2020Article
- Rib Exostoses Presenting as Mediastinal Masses: A Rare Presentation and Minireview of the Literature.Case reports in medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMaffucci syndrome is characterized by the sporadic occurrence of multiple enchondromas together with multiple hemangiomas. Patients with Maffucci syndrome are at increased risk of developing different kinds of malignant tumors. CASE PRESENTATION: We report on a 39-year-old woman who was diagnosed with Maffucci syndrome together with intrahepatic cholangiocarcinoma (IHCC). Heterozygous somatic mutations in the isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes are associated with a number of different tumor types (e.g. IHCC) and also with Maffucci syndrome. For IHCC, mutations in IDH1/IDH2 are associated with higher survival rates. IHCC tissue as well as normal liver tissue and peripheral blood were analyzed for IDH1/IDH2-mutations in our patient. In the tumor sample, we identified a recurrent somatic IDH1-mutation affecting Arg132, while in normal liver tissue and peripheral blood, no variants were detected, as expected.
conclusionThis case report presents the second patient in the literature exhibiting the features of Maffucci syndrome along with cholangiocarcinoma. This supports the hypothesis that IDH1/2-mutations, which can be present in different types of tumor tissue simultaneously, arise during embryonic development in a mosaic pattern; as a result, a more aggressive follow-up is proposed in patients with Maffucci syndrome to exclude neoplasms.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.