Evidence map›Paper›PMID 20806366›Full record

ArticlePediatric blood & cancer2010

T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.

Mwe Mwe Chao, Matthew A Todd, Udo Kontny, Katherine Neas, Michael J Sullivan, Alasdair G Hunter, David J Picketts, Christian P Kratz

Open access · greenAbstract readCase Reports
In one paragraph

Article in Pediatric blood & cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 26% 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

32 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.

  1. The potential role of PHF6 as an oncogene: a genotranscriptomic/proteomic meta-analysis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016
    Pooled it
  2. Trial
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. BörjesonZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023
    Article
  11. Article
  12. Review
  13. Review
  14. Article
  15. Frontiers in oncology · 2021
    Review
  16. Article
  17. Article
  18. The Genetics and Mechanisms of T-Cell Acute Lymphoblastic Leukemia.Cold Spring Harbor perspectives in medicine · 2020
    Review
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors at 6 institutions in 4 countries.

Mwe Mwe ChaoDivision of Pediatric Hematology-Oncology, Children's National Medical Center, Washington, District of Columbia, USA.
Matthew A Todd
Udo Kontny
Katherine Neas
Michael J Sullivan
Alasdair G Hunter
David J Picketts
Christian P Kratz
University of Ottawa · CACapital and Coast District Health Board · NZChildren's Hospital of Eastern Ontario · CANational Institutes of Health · USUniversity of Freiburg · DEUniversity of Otago · NZ

Funding

Clinical Genetic Studies of Familial and Hereditary Cancer SyndromesZIACP010144 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$111.8M
CIHRIntramural NIH HHS Z99 CA999999
6 · The paper itself

Abstract

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked mental retardation syndrome that is caused by germline mutations in PHF6. We describe a 9-year-old male with BFLS, who developed T-cell acute lymphoblastic leukemia (T-ALL). The PHF6 gene is located on the X chromosome and encodes a protein with two PHD-type zinc finger domains and four nuclear localization sequences. Previously, overexpression of Phf6 was observed in murine T-cell lymphomas. Our observation indicates that BFLS may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-ALL.

Indexed as

MutationCarrier ProteinsChildHumansMalePrecursor T-Cell Lymphoblastic Leukemia-LymphomaRepressor ProteinsX-Linked Intellectual DisabilityCarrier ProteinsPHF6 protein, humanRepressor Proteins

Identifiers

PMID20806366
PMCPMC2933084
OpenAlexW2117606390

What OpenQuestion holds

Textmetadata
LicenceTDM
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.