Evidence map›Paper›PMID 28592321›Full record

ArticleMolecular cancer2017

Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors.

Netta Mäkinen, Kati Kämpjärvi, Norma Frizzell, Ralf Bützow, Pia Vahteristo

Open access · goldAbstract read
In one paragraph

Article in Molecular cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed
7.4field-weighted citation impact, top 2% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

50 citing papers in PubMed, 107 citations in OpenAlex.

  1. Review
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  11. Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases.Virchows Archiv : an international journal of pathology · 2024
    Article
  12. Review
  13. Article
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  15. Review
  16. Article
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  19. Molecular-Based Immunohistochemical Algorithm for Uterine Leiomyosarcoma Diagnosis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023
    Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 2 countries.

Netta MäkinenResearch Programs Unit, Genome-Scale Biology Research Program and Medicum, Department of Medical and Clinical Genetics, FIN-00014 University of Helsinki, P.O. Box 63, Helsinki, Finland. netta.makinen@helsinki.fi.
Kati KämpjärviResearch Programs Unit, Genome-Scale Biology Research Program and Medicum, Department of Medical and Clinical Genetics, FIN-00014 University of Helsinki, P.O. Box 63, Helsinki, Finland.
Norma FrizzellDepartment of Pharmacology, Physiology and Neuroscience, USC School of Medicine, University of South Carolina, Columbia, SC, 29209, USA.
Ralf BützowDepartment of Pathology, Laboratory of Helsinki University Hospital (HUSLAB), Helsinki University Hospital and Medicum, FIN-00014 University of Helsinki, P.O. Box 21, Helsinki, Finland.
Pia VahteristoResearch Programs Unit, Genome-Scale Biology Research Program and Medicum, Department of Medical and Clinical Genetics, FIN-00014 University of Helsinki, P.O. Box 63, Helsinki, Finland. pia.vahteristo@helsinki.fi.
University of Helsinki · FIUniversity of South Carolina · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Uterine smooth muscle tumors range from benign leiomyomas to malignant leiomyosarcomas. Based on numerous molecular studies, leiomyomas and leiomyosarcomas mostly lack shared mutations and the majority of tumors are believed to develop through distinct mechanisms. To further characterize the molecular variability among uterine smooth muscle tumors, and simultaneously insinuate their potential malignant progression, we examined the frequency of known genetic leiomyoma driver alterations (MED12 mutations, HMGA2 overexpression, biallelic FH inactivation) in 65 conventional leiomyomas, 94 histopathological leiomyoma variants (18 leiomyomas with bizarre nuclei, 22 cellular, 29 highly cellular, and 25 mitotically active leiomyomas), and 51 leiomyosarcomas. Of the 210 tumors analyzed, 107 had mutations in one of the three driver genes. No tumor had more than one mutation confirming that all alterations are mutually exclusive. MED12 mutations were the most common alterations in conventional and mitotically active leiomyomas and leiomyosarcomas, while leiomyomas with bizarre nuclei were most often FH deficient and cellular tumors showed frequent HMGA2 overexpression. Highly cellular leiomyomas displayed the least amount of alterations leaving the majority of tumors with no known driver aberration. Our results indicate that based on the molecular background, histopathological leiomyoma subtypes do not only differ from conventional leiomyomas, but also from each other. The presence of leiomyoma driver alterations in nearly one third of leiomyosarcomas suggests that some tumors arise through leiomyoma precursor lesion or that these mutations provide growth advantage also to highly aggressive cancers. It is clinically relevant to understand the molecular background of various smooth muscle tumor subtypes, as it may lead to improved diagnosis and personalized treatments in the future.

Indexed as

Biomarkers, TumorDNA Mutational AnalysisFemaleFumarate HydrataseGene ExpressionHMGA2 ProteinHumansMediator ComplexMutationNeoplasm GradingRetrospective StudiesSmooth Muscle TumorUterine NeoplasmsBiomarkers, TumorFumarate HydrataseHMGA2 ProteinMED12 protein, humanMediator ComplexFHHistopathological uterine leiomyoma variantsHMGA2MED12Uterine leiomyomaUterine leiomyosarcoma

Identifiers

PMID28592321
PMCPMC5463371
OpenAlexW2622844069

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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.