Evidence map›Paper›PMID 40848100›Full record

ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025

Dual cancers in Ataxia-Telangiectasia: a case report and literature review.

Shaghayegh Khanmohammadi, Amirhossein Habibzadeh, Seyed Mohammad Kazem Nourbakhsh, Mojtaba Fazel, Erfan Amini, Hassan Abolhassani, Nima Rezaei, Arash Kalantari, Reza Yazdani

Abstract readCase ReportsReview
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In one paragraph

Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Shaghayegh KhanmohammadiNon-Communicable Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.ORCID http://orcid.org/0000-0002-8732-0191
Amirhossein HabibzadehSchool of Medicine, Tehran University of Medical Sciences, Tehran, Iran.ORCID http://orcid.org/0009-0005-2999-2642
Seyed Mohammad Kazem NourbakhshDepartment of Hematology and Oncology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.ORCID http://orcid.org/0000-0002-4320-7509
Mojtaba FazelPediatric Chronic Kidney Disease Research Center, Tehran University of Medical Sciences, Tehran, Iran.ORCID http://orcid.org/0000-0003-0463-4257
Erfan AminiUro-Oncology Research Center, Tehran University of Medical Sciences, Tehran, Iran.ORCID http://orcid.org/0000-0002-5675-7526
Hassan AbolhassaniResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.ORCID http://orcid.org/0000-0002-4838-0407
Nima RezaeiResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.ORCID http://orcid.org/0000-0002-3836-1827
Arash KalantariImam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran. drkalantari72@gmail.com.ORCID http://orcid.org/0009-0004-3351-9092
Reza YazdaniResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. reza_yazdani86@yahoo.com.ORCID http://orcid.org/0000-0002-5578-6595

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAtaxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, leading to defective DNA repair, genomic instability, and immune surveillance dysfunction. Therefore, A-T patients are predisposed to cancers, particularly hematological malignancies like lymphoma and leukemia.

methodsTo identify the characteristics of A-T cases with multiple cancers, we searched the Iranian A-T registry with 324 cases and conducted a systematic literature search in PubMed and Embase using appropriate keywords. Studies reporting A-T patients with two or more distinct cancers were included and compared with cases identified from our national registry.

resultsMultiple cancers were reported in one 19-year-old male with A-T who presented diffuse large B-cell lymphoma (DLBCL) and renal cell carcinoma (RCC) due to a homozygous severe splicing mutation in ATM. In our literature review, we found 14 cases of A-T patients diagnosed with at least two distinct types of cancer. Among the secondary cancers in the 14 patients, hematologic cancer was observed in 3 patients (21.4%), while non-hematologic cancers were seen in 11 patients (78.6%). Similar to our case, two A-T patients were diagnosed with RCC but only as a primary tumor.

conclusionThe combination of hematological and solid tumors underscores the significance of cancer predisposition in A-T patients. Given their heightened cancer risk, A-T patients should benefit from regular cancer screening and tailored therapeutic approaches to minimize treatment-related complications.

Indexed as

Ataxia TelangiectasiaCarcinoma, Renal CellKidney NeoplasmsLymphoma, Large B-Cell, DiffuseAtaxia Telangiectasia Mutated ProteinsHumansMaleYoung AdultAtaxia Telangiectasia Mutated ProteinsATM protein, humanAtaxia-telangiectasiaDiffuse large b-cell lymphomaInborn errors of immunityPrimary immunodeficiencyRenal cell carcinomaSecond malignancy

Identifiers

PMID40848100

What Socratic holds

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Registered trials

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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 Socratic graph.