Evidence map›Paper›PMID 39796213›Full record

ReviewInternational journal of molecular sciences2025

Atypical B-Cell Acute Lymphoblastic Leukemia with iAMP21 in the Context of Constitutional Ring Chromosome 21: A Case Report and Review of the Genetic Insights.

José Vicente Gil, Gayane Avetisyan, Sandra de Las Heras, Alberto Miralles, María Del Cañizo, Ángela Rico, María Eli Valerio, Vanesa Díaz, Paula Piñero, Carmen Orellana and 6 more

Abstract readCase ReportsReview
In one paragraph

Review in International journal of molecular sciences, 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. 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

16 authors.

José Vicente GilAccredited Research Group on Hematology, Instituto de Investigación Sanitaria la Fe, 46026 Valencia, Spain.ORCID 0000-0003-2097-4796
Gayane AvetisyanAccredited Research Group on Hematology, Instituto de Investigación Sanitaria la Fe, 46026 Valencia, Spain.
Sandra de Las HerasAccredited Research Group on Hematology, Instituto de Investigación Sanitaria la Fe, 46026 Valencia, Spain.
Alberto MirallesAccredited Research Group on Hematology, Instituto de Investigación Sanitaria la Fe, 46026 Valencia, Spain.
María Del CañizoOnco-Hematology Unit, Pediatrics Service, Hospital General Universitario de Alicante, 03010 Alicante, Spain.
Ángela RicoOnco-Hematology Unit, Pediatrics Service, Hospital General Universitario de Alicante, 03010 Alicante, Spain.
María Eli ValerioOnco-Hematology Unit, Pediatrics Service, Hospital General Universitario de Alicante, 03010 Alicante, Spain.ORCID 0009-0001-4186-4695
Vanesa DíazHematology Diagnostic Unit, Hematology Service, Hospital General Universitario de Alicante, 03010 Alicante, Spain.
Paula PiñeroHematology Diagnostic Unit, Hematology Service, Hospital General Universitario de Alicante, 03010 Alicante, Spain.
Carmen OrellanaGenetics Unit, Hospital Universitario y Politécnico la Fe, 46026 Valencia, Spain.ORCID 0000-0003-4271-5859
José CerveraGenetics Unit, Hospital Universitario y Politécnico la Fe, 46026 Valencia, Spain.ORCID 0000-0001-8252-1106
Carolina FuentesOnco-Hematology Unit, Pediatrics Service, Hospital Universitario y Politécnico la Fe, 46026 Valencia, Spain.ORCID 0009-0008-4539-445X
José María FernándezOnco-Hematology Unit, Pediatrics Service, Hospital Universitario y Politécnico la Fe, 46026 Valencia, Spain.
Eva BarragánCentro de Investigación Biomédica en Red de Cáncer, CIBERONC CB16/12/00284, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Esperanza SuchCentro de Investigación Biomédica en Red de Cáncer, CIBERONC CB16/12/00284, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Marta LlopCentro de Investigación Biomédica en Red de Cáncer, CIBERONC CB16/12/00284, Instituto de Salud Carlos III, 28029 Madrid, Spain.ORCID 0000-0002-0106-7296

Funding

Asociación española contra el cáncer PRDVA246268GILGeneralidad Valenciana, Conselleria de Innovación, Universidades, Ciencia y Sociedad Digital GV/2021/105 and CIGE/2022/083Spanish Ministry of Science and Innovation PID2021-126138OB-I00
6 · The paper itself

Abstract

Recent studies have demonstrated the association between constitutional ring chromosome 21 (r(21)c) and the development of B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21). iAMP21 acts as a driver which is often accompanied by secondary alterations that influence disease progression. Here, we report an atypical case of iAMP21 B-ALL with a unique molecular profile in the context of r(21)c. The onset of B-ALL occurred significantly earlier than previously reported in iAMP21-ALL, likely due to the presence of r(21)c. Only scarce cases of iAMP21 with concomitant

Indexed as

Chromosomes, Human, Pair 21Precursor B-Cell Lymphoblastic Leukemia-LymphomaRing ChromosomesHumansPAX5 Transcription FactorPAX5 protein, humanPAX5 Transcription Factoracute lymphoblastic leukemiaiAMP21next-generation sequencingoptical genome mappingring chromosome

Identifiers

PMID39796213
PMCPMC11719716

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.