Evidence map›Paper›PMID 39069753›Full record

ReviewAnnals of laboratory medicine2024

Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.

Kwan Hoon Jo, Jaewoong Lee, Jaeeun Yoo, Hoon Seok Kim, Eun Sook Kim, Je Ho Han, Yi Sun Jang, Jae-Seung Yun, Jang Won Son, Soon Jib Yoo and 6 more

Abstract readReviewMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Review in Annals of laboratory medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

16 authors.

Kwan Hoon JoDivision of Endocrinology & Metabolism, Department of Internal Medicine, Incheon St. Mary's hospital, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0003-3308-6560
Jaewoong LeeDepartment of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0001-8318-050x
Jaeeun YooDepartment of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0001-9917-5393
Hoon Seok KimDepartment of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0001-8980-8177
Eun Sook KimDivision of Endocrinology & Metabolism, Department of Internal Medicine, Incheon St. Mary's hospital, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0002-1363-2037
Je Ho HanDivision of Endocrinology & Metabolism, Department of Internal Medicine, Incheon St. Mary's hospital, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0001-6016-8006
Yi Sun JangDepartment of Internal Medicine, Daejeon St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0002-1266-0183
Jae-Seung YunDepartment of Internal Medicine, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0001-5949-1826
Jang Won SonDepartment of Internal Medicine, Bucheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0003-0339-0131
Soon Jib YooDepartment of Internal Medicine, Bucheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0002-9932-4130
Seung Hwan LeeDepartment of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0002-3964-3877
Dong Jun LimDepartment of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0003-0995-6482
Hyuk-Sang KwonDepartment of Internal Medicine, Yeouido St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0003-4026-4572
Seungok LeeDepartment of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0003-4538-8427
Sungdae MoonDivision of Endocrinology & Metabolism, Department of Internal Medicine, Incheon St. Mary's hospital, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0002-3094-9415
Myungshin KimDepartment of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0001-8632-0168

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic testing is recommended for all patients with pheochromocytomas and paragangliomas (PPGL) to establish genotype-phenotype associations. We investigated germline mutations in 59 patients with PPGL at six Korean university hospitals using next-generation sequencing (NGS) targeting 38 PPGL-associated genes, including those recommended by the Korean PPGL Task Force. Germline mutations were identified in 13 patients (22%), and affected four genes:

Indexed as

Adrenal Gland NeoplasmsGerm-Line MutationHigh-Throughput Nucleotide SequencingParagangliomaPheochromocytomaProto-Oncogene Proteins c-retVon Hippel-Lindau Tumor Suppressor ProteinAdolescentAdultAgedEast Asian PeopleFemaleGenetic Association StudiesGenetic TestingHumansMaleNeurofibromin 1Proto-Oncogene Proteins c-retRET protein, humanSDHB protein, humanSDHD protein, humanSuccinate DehydrogenaseVHL protein, humanVon Hippel-Lindau Tumor Suppressor ProteinGenotypeGermlineKoreanParagangliomaPhenotypePheochromocytoma

Identifiers

PMID39069753
PMCPMC11375186

What Socratic holds

Textmetadata
LicenceCC BY-NC
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Registered trials

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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 Socratic graph.