Evidence map›Paper›PMID 35467057›Full record

ArticleCancer science2022

PAX5 alterations in an infant case of KMT2A-rearranged leukemia with lineage switch.

Koji Nakajima, Hirohito Kubota, Itaru Kato, Kiyotaka Isobe, Hiroo Ueno, Kagehiro Kozuki, Kuniaki Tanaka, Naoko Kawabata, Takashi Mikami, Kosuke Tamefusa and 6 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Cancer science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.3field-weighted citation impact, top 19% 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

6 citing papers in PubMed, 8 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

16 authors at 2 institutions in 1 country.

Koji NakajimaDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Hirohito KubotaDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.ORCID https://orcid.org/0000-0002-6935-5120
Itaru KatoDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.ORCID https://orcid.org/0000-0002-2932-4960
Kiyotaka IsobeDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Hiroo UenoDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kagehiro KozukiDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kuniaki TanakaDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Naoko KawabataDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Takashi MikamiDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kosuke TamefusaDepartment of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.ORCID https://orcid.org/0000-0002-1675-7038
Ritsuo NishiuchiDepartment of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
Satoshi SaidaDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Katsutsugu UmedaDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.ORCID https://orcid.org/0000-0002-6844-2011
Hidefumi HiramatsuDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.ORCID https://orcid.org/0000-0003-3136-5670
Souichi AdachiDepartment of Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Junko TakitaDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.ORCID https://orcid.org/0000-0002-2452-6520
Kyoto University · JPUniversity of Kochi · JP

Funding

Japan Agency for Medical Research and Development JP19ck0106468h0001Japan Agency for Medical Research and Development JP21ck0106531Japan Leukemia Research FundJSPS KAKENHI JP17H04224JSPS KAKENHI JP18K19467JSPS KAKENHI JP19J11112JSPS KAKENHI JP20H00528JSPS KAKENHI JP21K19405Princess Takamatsu Cancer Research FundProject for Cancer Research and Therapeutic Evolution JP20cm0106509h9905The Mother and Child Health Foundation
6 · The paper itself

Abstract

Lineage switch is a rare event at leukemic relapse. While mostly known to occur in KMT2A-rearranged infant leukemia, the underlying mechanism is yet to be depicted. This case report describes a female infant who achieved remission of KMT2A-MLLT3-rearranged acute monocytic leukemia, but 6 months thereafter, relapsed as KMT2A-MLLT3-rearranged acute lymphocytic leukemia. Whole exome sequencing of the bone marrow obtained pre-post lineage switch revealed two somatic mutations of PAX5 in the relapse sample. These two PAX5 alterations were suggested to be loss of function, thus to have played the driver role in the lineage switch from acute monocytic leukemia to acute lymphocytic leukemia.

Indexed as

Leukemia, Monocytic, AcuteLeukemia, Myeloid, AcutePrecursor Cell Lymphoblastic Leukemia-LymphomaBone MarrowChildFemaleHistone-Lysine N-MethyltransferaseHumansInfantMyeloid-Lymphoid Leukemia ProteinPAX5 Transcription FactorRecurrenceHistone-Lysine N-MethyltransferaseKMT2A protein, humanMyeloid-Lymphoid Leukemia ProteinPAX5 protein, humanPAX5 Transcription Factorinfant leukemiaKMT2A rearrangementlineage switchPAX5whole exome sequencing

Identifiers

PMID35467057
PMCPMC9277256
OpenAlexW4224451661

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.