Evidence map›Paper›PMID 37661450›Full record

ArticleInternal medicine (Tokyo, Japan)2024

A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a MEN1 Variant of Uncertain Significance.

Hiroyuki Matsubayashi, Yoshimi Kiyozumi, Rina Harada, Takashi Mukaigawa, Teichi Sugiura, Hirotoshi Ishiwatari, Junya Sato, Fumitaka Niiya, Kazuaki Nakashima, Nobuhiro Kado and 3 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 33% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

13 authors at 1 institution in 3 countries.

Hiroyuki MatsubayashiDivision of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
Yoshimi KiyozumiDivision of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
Rina HaradaDivision of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
Takashi MukaigawaDivision of Head and Neck Surgery, Shizuoka Cancer Center, Japan.
Teichi SugiuraDivision of Hepato-Biliary-Pancreatic Surgery, Shizuoka Cancer Center, Japan.
Hirotoshi IshiwatariDivision of Endoscopy, Shizuoka Cancer Center, Japan.
Junya SatoDivision of Endoscopy, Shizuoka Cancer Center, Japan.
Fumitaka NiiyaDivision of Endoscopy, Shizuoka Cancer Center, Japan.
Kazuaki NakashimaDivision of Breast Imaging and Breast Intervention Radiology, Shizuoka Cancer Center, Japan.
Nobuhiro KadoDivision of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
Seiichiro NishimuraDivision of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
Goichi HondaDivision of Research Center, Shizuoka Cancer Center, Japan.
Nobuyuki OhikeDivision of Pathology, Shizuoka Cancer Center, Japan.
Shizuoka Cancer Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple gastroenteric, pancreatic, and pituitary neuroendocrine neoplasms (NENs) were diagnosed in a 74-year-old man with a history of primary hyperparathyroidism (PHPT). Germline testing demonstrated a variant of MEN1 (c.1694T>A, p.L565Q), whose pathogenicity was classified as a variant of uncertain significance (VUS) according to the ACMG/AMP guidelines. The same germline variant was detected in the patient's son and daughter, who also showed PHPT or hypercalcemia and met the clinical diagnostic criteria for multiple endocrine neoplasia type 1 (MEN1). During surveillance of the son, multiple pancreatic tumors suggestive of NENs were detected. The pathogenicity of the current MEN1 variant was re-evaluated as likely pathogenic, based on additional family data.

Indexed as

Multiple Endocrine Neoplasia Type 1Neuroendocrine TumorsPituitary NeoplasmsAgedEast Asian PeopleGerm-Line MutationHumansJapanMaleProto-Oncogene ProteinsMEN1 protein, humanProto-Oncogene ProteinsMEN1neuroendocrine tumorpancreasvariant of uncertain significance

Identifiers

PMID37661450
PMCPMC11081883
OpenAlexW4386321065

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.