Evidence map›Paper›PMID 33615670›Full record

ArticleAmerican journal of medical genetics. Part A2021

Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET.

Margarita Raygada, Mark Raffeld, Andrew Bernstein, Markku Miettinen, John Glod, Marybeth S Hughes, Karlyne Reilly, Brigitte Widemann, Jaydira Del Rivero

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 31% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Diagnosis and grading of adrenal cortical carcinoma.Virchows Archiv : an international journal of pathology · 2026
    Review
  2. Review
  3. Review
  4. Review
  5. Review
  6. Article
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

9 authors at 3 institutions in 1 country.

Margarita RaygadaPediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, DC, USA.
Mark RaffeldLaboratory of Pathology, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Andrew BernsteinGeorge Washington School of Medicine, George Washington University, Washington, DC, USA.
Markku MiettinenLaboratory of Pathology, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
John GlodPediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, DC, USA.
Marybeth S HughesDepartment of Surgery, Eastern Virginia Medical School, Norfolk, Virginia, USA.
Karlyne ReillyPediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, DC, USA.
Brigitte WidemannPediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, DC, USA.
Jaydira Del RiveroDevelopmental Therapeutics Branch, National Cancer Institute, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0001-9710-4030
National Institutes of Health · USEastern Virginia Medical School · USGeorge Washington University · US

Funding

Pediatric Oncology Branch Clinical Care and EducationZIEBC011516 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI GLOD, JOHN · 2013 to 2025
$69.1M
MyPART: My Pediatric and Adult Rare Tumor Network - CuresZIABC011852 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI WIDEMANN, BRIGITTE · 2020 to 2025
$39.2M
Genreal Surgical PathologyZIDBC011291 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI MIETTINEN, MARKKU · 2010 to 2025
$30.3M
Immunohistochemical and genomic analysis of tumorsZIABC011427 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI MIETTINEN, MARKKU · 2012 to 2025
$24.0M
6 · The paper itself

Abstract

Adrenocortical carcinoma (ACC) is a rare aggressive malignancy that originates in the outer layer of the adrenal gland. Most ACCs are sporadic, but a small percentage of cases are due to hereditary cancer syndromes such as Li-Fraumeni syndrome (LFS), Lynch syndrome (LS), and familial adenomatous polyposis (FAP). Multiple endocrine neoplasia type 2A (MEN2A) is an inherited disorder that predisposes to medullary thyroid cancer, pheochromocytoma, and parathyroid hyperplasia. We present here a case of ACC with both LS and MEN2A; the family and medical history were consistent with Lynch. This is, to our knowledge, the first report of a patient with ACC associated with germline mutations in RET and MSH2, and no phenotypical characteristics of MEN2A.

Indexed as

Adrenocortical CarcinomaColorectal Neoplasms, Hereditary NonpolyposisFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMiddle AgedMultiple Endocrine Neoplasia Type 2aMutS Homolog 2 ProteinPedigreeProto-Oncogene Proteins c-retMSH2 protein, humanMutS Homolog 2 ProteinProto-Oncogene Proteins c-retRET protein, humanadrenocortical cancerLynch syndromemultiple endocrine neoplasia type 2A

Identifiers

PMID33615670
PMCPMC7986073
OpenAlexW3131756668

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.