Evidence map›Paper›PMID 39521281›Full record

ArticleThe Journal of allergy and clinical immunology2025

Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.

Aimee Magnarelli, Qi Liu, Fan Wang, Xiao P Peng, Jennifer Wright, Ninad Oak, Valerie Natale, Cynthia Rothblum-Oviatt, Maureen A Lefton-Greif, Sharon McGrath-Morrow and 4 more

Abstract read
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In one paragraph

Article in The Journal of allergy and clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. Review
  6. Article
  7. Dual cancers in Ataxia-Telangiectasia: a case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  8. 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

14 authors.

Aimee MagnarelliEudowood Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, Md.
Qi LiuDepartment of Public Health Sciences, University of Alberta, Edmonton, Alberta, Canada.
Fan WangDepartment of Epidemiology and Cancer Control, St Jude Children's Research Hospital, Memphis, Tenn.
Xiao P PengA-T Clinical Center, Johns Hopkins Hospital, Baltimore, Md; Division of Genetics, Department of Pediatrics, Children's Hosptial at Montefiore, Albert Einstein College of Medicine, Bronx, NY.
Jennifer WrightEudowood Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, Md; A-T Clinical Center, Johns Hopkins Hospital, Baltimore, Md.
Ninad OakDepartment of Oncology, St Jude Children's Research Hospital, Memphis, Tenn.
Valerie NataleA-T Clinical Center, Johns Hopkins Hospital, Baltimore, Md; Forgotten Diseases Research Foundation, Santa Clara, Calif.
Cynthia Rothblum-OviattA-T Clinical Center, Johns Hopkins Hospital, Baltimore, Md.
Maureen A Lefton-GreifA-T Clinical Center, Johns Hopkins Hospital, Baltimore, Md; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Md; Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine, Baltimore, Md; Department of Physical Medicine and Rehabilitation, Johns Hopkins School of Medicine, Baltimore, Md.
Sharon McGrath-MorrowA-T Clinical Center, Johns Hopkins Hospital, Baltimore, Md; Division of Pulmonary Medicine and Sleep, Children's Hospital of Philadelphia, Pa; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa.
Thomas O CrawfordA-T Clinical Center, Johns Hopkins Hospital, Baltimore, Md; Department of Neurology, Johns Hopkins Medicine, Baltimore, Md; Department of Pediatrics, Johns Hopkins Medicine, Baltimore, Md.
Matthew J EhrhardtDepartment of Epidemiology and Cancer Control, St Jude Children's Research Hospital, Memphis, Tenn; Department of Oncology, St Jude Children's Research Hospital, Memphis, Tenn.
Howard M LedermanEudowood Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, Md; A-T Clinical Center, Johns Hopkins Hospital, Baltimore, Md.
Richa SharmaA-T Clinical Center, Johns Hopkins Hospital, Baltimore, Md; Department of Hematology, St Jude Children's Research Hospital, Memphis, Tenn. Electronic address: richa.sharma@stjude.org.

Funding

ZINC AND CA EDTA THERAPY OF PLUMBISMM01RR000052 · NCRR · JOHNS HOPKINS UNIVERSITY · PI MARSH, LAURA · 1985 to 2007
$37.3M
Methods to Improve Clinical Trials for A-TR21TR003534 · NCATS · JOHNS HOPKINS UNIVERSITY · PI LEDERMAN, HOWARD M., LEFTON-GREIF, MAUREEN A · 2020 to 2021
$433k
FDA HHS R01 FD007605NCATS NIH HHS R21 TR003534NCRR NIH HHS M01 RR000052
6 · The paper itself

Abstract

backgroundAtaxia telangiectasia (A-T) is a DNA repair disorder with cancer predisposition.

objectiveWe sought to characterize the prevalence and outcomes of hematologic and solid cancers and treatment-associated toxicities in individuals with A-T.

methodsData were retrospectively analyzed from the Johns Hopkins Ataxia Telangiectasia Clinical Center cohort. Cumulative incidence and standardized incidence ratios of cancer, survival probability after cancer diagnosis, and standardized mortality ratios were calculated. Cox regression estimated risk of death on the basis of chemotherapy (standard vs reduced) dosing, and multivariable logistic regression evaluated cancer risk associations with ataxia telangiectasia mutated (ATM) exons and variants.

resultsEighty-four (16.5%) of 508 individuals were diagnosed with a primary cancer, of whom 62 (74%) were hematologic in origin and 22 (26%) were solid-organ cancers. The cumulative incidence of cancer was 29% by age 35 years. Non-Hodgkin lymphoma occurred most frequently (n = 39), whereas solid cancers disproportionately affected those 18 years and older (n = 22). The standardized mortality ratio was 24.6 (95% CI, 21.1-28.4) overall and 232.9 (95% CI,178.1-299.2) among individuals with cancer. Risk of death was higher when treated with standard/unknown versus modified chemotherapy (hazard ratio, 2.2; 95% CI, 1.1-4.4; P = .024). Chemotherapy-associated toxicities developed in 58% of individuals, predominantly neurologic (n = 14) and gastrointestinal (n = 10) systems. Three exons were enriched for cancer-associated variants.

conclusionsIndividuals with A-T experience a wide array of blood and solid-organ malignancies, high mortality rates, and treatment-related toxicities, highlighting need for targeted therapies to mitigate toxicity and optimize survival.

Indexed as

Ataxia TelangiectasiaNeoplasmsAdolescentAdultAgedAged, 80 and overAtaxia Telangiectasia Mutated ProteinsFemaleHumansIncidenceMaleMiddle AgedPrevalenceRetrospective StudiesYoung AdultAtaxia Telangiectasia Mutated ProteinsAtaxia telangiectasiaATMchemotherapymortalitymutationnon–Hodgkin lymphomapathogenicsolid-organ cancerstoxicity

Identifiers

PMID39521281
PMCPMC11915532

What OpenQuestion holds

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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.