Evidence map›Paper›PMID 34382369›Full record

ArticleMolecular genetics & genomic medicine2021

A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy.

Angelina Beer, Ricardo Beck, Anne Schedel, Malte von Bonin, Jörn Meinel, Ulrike Anne Friedrich, Maria Menzel, Meinolf Suttorp, Sebastian Brenner, Guido Fitze and 4 more

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

Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 29% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

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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 at 3 institutions in 1 country.

Angelina BeerNeonatology and Pediatric Intensive Care, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
Ricardo BeckDepartment of Pediatric Surgery, University Hospital Carl Gustav Carus, Dresden, Germany.
Anne SchedelPediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
Malte von BoninMedical Clinic I, University Hospital Carl Gustav Carus, Dresden, Germany.
Jörn MeinelInstitute of Pathology, University Hospital Carl Gustav Carus, Dresden, Germany.
Ulrike Anne FriedrichPediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
Maria MenzelPediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
Meinolf SuttorpMedical Faculty, Pediatric Hematology & Oncology, Technical University, Dresden, Germany.
Sebastian BrennerNeonatology and Pediatric Intensive Care, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
Guido FitzeDepartment of Pediatric Surgery, University Hospital Carl Gustav Carus, Dresden, Germany.
Björn LangePediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
Ralf KnöflerPediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
Julia HauerPediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.ORCID 0000-0002-4058-3058
Franziska AuerNational Center for Tumor Diseases (NCT), Dresden, Germany.
University Hospital Carl Gustav Carus · DEGerman Cancer Research Center · DETechnische Universität Dresden · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIsolated myelosarcoma of infancy is a rare presentation of acute myelogenous leukaemia (AML). Because of its rarity and early onset in infancy underlying genetic predisposition is potentially relevant in disease initiation. METHODS AND

resultsWe report an oncologic emergency in an infant with thoracic and intraspinal aleukaemic myeloid sarcoma causing acute myelon compression and lower leg palsy. Whole-exome sequencing of the patient's germline DNA identified a rare PALB2 (OMIM 610355) variant (p.A1079S), which is located in a domain critical for the gene's proper function within the homology-directed repair pathway. In line with potential DNA damage repair defects mediated by the PALB2 deregulation, the patient's fibroblasts showed increased sensitivity towards radiation and DNA intercalating agents.

conclusionTherefore, we suggest PALB2 p.A1079S as a pathogenic variant potentially contributing to the here observed patient phenotype.

Indexed as

Cells, CulturedFanconi Anemia Complementation Group N ProteinFibroblastsG2 Phase Cell Cycle CheckpointsGerm-Line MutationHumansInfantMaleSarcoma, MyeloidSpinal NeoplasmsFanconi Anemia Complementation Group N ProteinPALB2 protein, humanextramedullary myelogenous leukaemiamyeloid sarcomaPALB2tumour suppressor

Identifiers

PMID34382369
PMCPMC8457705
OpenAlexW3192417221

What OpenQuestion 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 OpenQuestion graph.