Evidence map›Paper›PMID 38538628›Full record

ArticleNPJ genomic medicine2024

Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.

K M Ingley, M Zatzman, A M Fontebasso, W Lo, V Subasri, A Goldenberg, Y Li, S Davidson, N Kanwar, L Waldman and 11 more

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

Article in NPJ genomic medicine, 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
0.9field-weighted citation impact, top 28% 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. 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

21 authors at 5 institutions in 2 countries.

K M Ingley *Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, Toronto, Canada.ORCID http://orcid.org/0000-0002-1806-2686
M Zatzman *Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.ORCID http://orcid.org/0000-0001-5235-4116
A M FontebassoDivision of General Surgery, Sinai Health System, Department of Surgery, University of Toronto, Toronto, ON, Canada.
W LoDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.
V SubasriGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-6584-877X
A GoldenbergGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Y LiDepartment of Pediatric and Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
S DavidsonGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
N KanwarDepartment of Pediatric and Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
L WaldmanGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
L BrungaGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Y BabichevDivision of General Surgery, Sinai Health System, Department of Surgery, University of Toronto, Toronto, ON, Canada.
E G DemiccoDepartment of Pathology and Laboratory Medicine, Sinai Health System, University of Toronto, Toronto, ON, Canada.
A GuptaDivision of Medical Oncology and Hematology, Princess Margaret Cancer Centre, Toronto, Canada.
M SzybowskaDivision of Medical Oncology and Hematology, Princess Margaret Cancer Centre, Fred A. Litwin Centre in Genetic Medicine, University Health Network, Toronto, ON, Canada.
S ThipphavongDepartment of Radiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.
D MalkinDepartment of Pediatrics, Division of Haematology/ Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
A VillaniDepartment of Pediatrics, Division of Haematology/ Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
A ShlienGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-0368-5370
R A GladdyDivision of General Surgery, Sinai Health System, Department of Surgery, University of Toronto, Toronto, ON, Canada. rebecca.gladdy@sinaihealth.ca.
R H KimDivision of Medical Oncology and Hematology, Princess Margaret Cancer Centre, Fred A. Litwin Centre in Genetic Medicine, University Health Network, Toronto, ON, Canada. Raymond.kim@uhn.ca.ORCID http://orcid.org/0000-0002-2147-8674
Hospital for Sick Children · CAUniversity of Toronto · CAUniversity Health Network · CAPeter MacCallum Cancer Centre · AUPrincess Margaret Cancer Centre · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial gastrointestinal stromal tumors (GIST) are rare. We present a kindred with multiple family members affected with multifocal GIST who underwent whole genome sequencing of the germline and tumor. Affected individuals with GIST harbored a germline variant found within exon 13 of the KIT gene (c.1965T>G; p.Asn655Lys, p.N655K) and a variant in the MSR1 gene (c.877 C > T; p.Arg293*, pR293X). Multifocal GISTs in the proband and her mother were treated with preoperative imatinib, which resulted in severe intolerance. The clinical features of multifocal GIST, cutaneous mastocytosis, allergies, and gut motility disorders seen in the affected individuals may represent manifestations of the multifunctional roles of KIT in interstitial cells of Cajal or mast cells and/or may be suggestive of additional molecular pathways which can contribute to tumorigenesis.

Identifiers

PMID38538628
PMCPMC10973472
OpenAlexW4393223713

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.