Evidence map›Paper›PMID 38633130›Full record

ArticleEJHaem2024

Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice-site

George Mason, Rhian Aghajani, Brieanna Dance, Jad Othman, Linda Goodwin, William Stevenson, Naomi Mackinlay

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

Article in EJHaem, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 27% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Review
  2. 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

7 authors at 3 institutions in 1 country.

George MasonDepartment of Transfusion and Haematology Royal North Shore Hospital Sydney New South Wales Australia.ORCID https://orcid.org/0009-0004-0970-1687
Rhian AghajaniDepartment of Transfusion and Haematology Royal North Shore Hospital Sydney New South Wales Australia.
Brieanna DanceDepartment of Clinical Genetics Children's Hospital at Westmead Sydney New South Wales Australia.
Jad OthmanDepartment of Transfusion and Haematology Royal North Shore Hospital Sydney New South Wales Australia.ORCID https://orcid.org/0000-0002-4971-3576
Linda GoodwinDepartment of Clinical Genetics Royal North Shore Hospital Sydney New South Wales Australia.
William StevensonDepartment of Transfusion and Haematology Royal North Shore Hospital Sydney New South Wales Australia.
Naomi MackinlayDepartment of Transfusion and Haematology Royal North Shore Hospital Sydney New South Wales Australia.
The University of Sydney · AURoyal North Shore Hospital · AUChildren's Hospital at Westmead · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Casitas B-cell lineage (CBL) syndrome is a rare RASopathy known to predispose to CBL-mutated juvenile myelomonocytic leukemia (JMML) in childhood. Adulthood acute myeloid leukemia arising out of a genetic aberrancies consistent with prior CBL-mutated JMML has been twice previously described, but chronic myeloproliferative neoplasia has not. We present a case of progressive myeloproliferative neoplasm in adulthood in the context of CBL syndrome alongside a novel CSF3R variant. We also review pathogenic splice-site mutations in CBL-mutated JMML.

Indexed as

cancer geneticschromosome 11qinfant leukemiamolecular pathogenesismyeloproliferative disorder

Identifiers

PMID38633130
PMCPMC11020124
OpenAlexW4391942726

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.