Evidence map›Paper›PMID 29534684›Full record

ArticleBMC cancer2018

A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2

Ying Pang, Garima Gupta, Chunzhang Yang, Herui Wang, Thanh-Truc Huynh, Ziedulla Abdullaev, Svetlana D Pack, Melanie J Percy, Terence R J Lappin, Zhengping Zhuang and 1 more

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

Article in BMC cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 32% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2021
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  4. Iron Mining for Erythropoiesis.International journal of molecular sciences · 2022
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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

11 authors at 6 institutions in 2 countries.

Ying PangSection on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
Garima GuptaSection on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
Chunzhang YangNeuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20892, USA.
Herui WangNeuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20892, USA.
Thanh-Truc HuynhSection on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
Ziedulla AbdullaevLaboratory of Pathology, National Cancer Institute, Bethesda, MD, 20892, USA.
Svetlana D PackLaboratory of Pathology, National Cancer Institute, Bethesda, MD, 20892, USA.
Melanie J PercyDepartment of Haematology, Belfast City Hospital, Belfast, Northern Ireland, BT9 7AB, UK.
Terence R J LappinCentre for Cancer Research and Cell Biology, Queen's University, Belfast, Northern Ireland, BT9 7AB, UK.
Zhengping ZhuangNeuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20892, USA.
Karel PacakSection on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA. karel@mail.nih.gov.
National Cancer Institute · USCenter for Cancer Research · USEunice Kennedy Shriver National Institute of Child Health and Human Development · USNational Institutes of Health · USQueen's University Belfast · GBUniversity of Ulster · GB

Funding

Nrf2-goverened metabolic reprogram in IDH1-mutated gliomaZIABC011761 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI YANG, CHUN ZHANG · 2017 to 2025
$3.4M
Molecular Mechanisms of Cancer DevelopmentZICBC011842 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI PACK, SVETLANA · 2018 to 2020
$458k
National Institute of Child Health and Human Development Z1AHD008735
6 · The paper itself

Abstract

backgroundThe role of the hypoxia signaling pathway in the pathogenesis of pheochromocytoma/paraganglioma (PPGL)-polycythemia syndrome has been elucidated. Novel somatic mutations in hypoxia-inducible factor type 2A (HIF2A) and germline mutations in prolyl hydroxylase type 1 and type 2 (PHD1 and PHD2) have been identified to cause upregulation of the hypoxia signaling pathway and its target genes including erythropoietin (EPO) and its receptor (EPOR). However, in a minority of patients presenting with this syndrome, the genetics and molecular pathogenesis remain unexplained. The aim of the present study was to uncover novel genetic causes of PPGL-polycythemia syndrome. CASE PRESENTATION: A female presented with a history of JAK2

conclusionsThis is the first report which provides direct molecular genetic evidence of association between a somatic IRP1 loss-of-function mutation and PHEO and secondary polycythemia. In patients diagnosed with PHEO/PGL and polycythemia with negative genetic testing for mutations in HIF2A, PHD1/2, and VHL, IRP1 should be considered as a candidate gene.

Indexed as

Germ-Line MutationRNA SplicingAdrenal Gland NeoplasmsAdultFemaleHumansIron Regulatory Protein 1Janus Kinase 2PheochromocytomaPolycythemia VeraPrognosisACO1 protein, humanIron Regulatory Protein 1JAK2 protein, humanJanus Kinase 2IRPPheochromocytomaPolycythemiaSplicing site

Identifiers

PMID29534684
PMCPMC5850917
OpenAlexW2797636128

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.