Evidence map›Paper›PMID 40368914›Full record

ArticleNPJ genomic medicine2025

Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report.

Sarah Ridd, Larissa Peck, Aniket Bankar, George S Charames, Jordan Lerner-Ellis, Radhika Mahajan, Peter J B Sabatini, Andrew Wong, Janet Malcolmson, Raymond H Kim

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In one paragraph

Article in NPJ genomic medicine, 2025. 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
–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

1 citing paper in PubMed.

  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

10 authors.

Sarah RiddPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Larissa PeckPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.ORCID http://orcid.org/0009-0006-0551-7940
Aniket BankarPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
George S CharamesSinai Health System, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-5937-9276
Jordan Lerner-EllisSinai Health System, Toronto, ON, Canada.
Radhika MahajanSinai Health System, Toronto, ON, Canada.
Peter J B SabatiniPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Andrew WongSinai Health System, Toronto, ON, Canada.
Janet MalcolmsonPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Raymond H KimPrincess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada. Raymond.Kim@uhn.ca.ORCID http://orcid.org/0000-0002-2147-8674

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic testing for solid tumor syndromes typically uses peripheral blood leukocytes (PBL) as the source of germline DNA. This approach has shortcomings in certain situations, such as somatic mosaicism and hematologic malignancies. Here we describe a case where germline genetic testing on PBL revealed an unsuspected diagnosis of myelodysplastic syndrome (MDS). A 68-year-old male with a history of three solid tumors and a significant family history of cancer underwent germline genetic testing with a 76-gene hereditary cancer panel. Initial testing using PBL revealed deletions of the entire APC and CTNNA1 genes, suggestive of a contiguous deletion of chromosome 5 (del(5q)). Subsequent testing on cultured fibroblasts was negative, indicating the deletions were somatic. Bone marrow analysis confirmed the presence of del(5q) and a diagnosis of MDS. This case demonstrates the potential to uncover hematologic disorders through hereditary cancer genetic testing, emphasizing the importance of careful results interpretation, multidisciplinary follow-up, and DNA source selection.

Identifiers

PMID40368914
PMCPMC12078474

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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 OpenQuestion graph.