Evidence map›Paper›PMID 28084339›Full record

ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2017

Recurrent IDH2 R172X mutations in sinonasal undifferentiated carcinoma.

Vickie Y Jo, Nicole G Chau, Jason L Hornick, Jeffrey F Krane, Lynette M Sholl

Open access · bronzeAbstract read
PubMed Publisher
In one paragraph

Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed
4.5field-weighted citation impact, top 5% 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

46 citing papers in PubMed, 116 citations in OpenAlex.

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  10. Molecular pathology in diagnosis and prognostication of head and neck tumors.Virchows Archiv : an international journal of pathology · 2024
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  14. Molecular Evidence for Olfactory Neuroblastoma as a Tumor of Malignant Globose Basal Cells.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023
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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 1 country.

Vickie Y JoDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Nicole G ChauDepartment of Medical Oncology, Dana Farber Cancer Institute and Harvard Medical School, Boston, MA, USA.
Jason L HornickDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Jeffrey F KraneDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Lynette M ShollDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Brigham and Women's Hospital · USHarvard University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sinonasal undifferentiated carcinoma is a rare and aggressive malignancy. Sinonasal undifferentiated carcinoma has long been considered a diagnosis of exclusion; to date, the molecular pathogenetic basis for sinonasal undifferentiated carcinoma is unknown. To identify potential oncogenic drivers in sinonasal undifferentiated carcinoma, targeted next-generation sequencing of 300 cancer-related genes was performed on 11 cases of sinonasal undifferentiated carcinoma. We identified IDH2 R172X mutations in 55% of sinonasal undifferentiated carcinomas including R172S, R172T, and R172M. Multispecific mutant IDH1/2 immunohistochemistry was performed and identified mutant-specific protein expression in all cases with available tissue: 3/3 sinonasal undifferentiated carcinomas with R172 mutations were positive and 4/4 wild-type cases were negative. Review of sequencing data for our institutional head and neck cohorts (n=412) confirmed the absence of IDH-activating mutations in other tumor types. Alterations in the IDH2-wild-type sinonasal undifferentiated carcinomas included SMARCA4 loss-of-function with confirmed loss of immunohistochemical expression, NOTCH1 gain-of-function, and TET2 loss-of-function. We demonstrate that the majority of histologically defined sinonasal undifferentiated carcinomas are characterized by IDH2 R172X mutations and overexpression of mutant protein. IDH2 R172X mutations are specific to sinonasal undifferentiated carcinoma among carcinomas of the head and neck, confirming this tumor type as a distinct clinicopathologic entity. These findings have significant implications for diagnosis and therapy with IDH inhibitors for patients with this rare and poorly understood tumor.

Indexed as

MutationAdultAgedBiomarkers, TumorCarcinomaDNA Mutational AnalysisFemaleHumansIsocitrate DehydrogenaseMaleMaxillary Sinus NeoplasmsMiddle AgedBiomarkers, TumorIDH2 protein, humanIsocitrate Dehydrogenase

Identifiers

PMID28084339
OpenAlexW2578205502

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

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.