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Article

Late acquisition of BCR::ABL1 during clonal evolution of SAMD9-associated MDS with phenotypic shift from AML to B-ALL.

International journal of hematology - 1 Sept 2026

Nakata Yusuke, Hiratsuka Anna, Yoroidaka Takeshi, Takahashi Wakana, Nishikawa Itaru, Sakashita Masataka, Yamada Shinya, Mizumaki Hiroki, Yoshida Akiyo, Imi Tatsuya, Maruyama Hiroyuki, Takamatsu Hiroyuki, Hosokawa Kohei, Nannya Yasuhito, Ogawa Seishi, Miyamoto Toshihiro

Abstract excerpt

We describe a unique case of SAMD9-associated myelodysplastic syndrome (MDS) with monosomy 7 that evolved over 16 years into BCR::ABL1-positive acute myeloid leukemia (AML) and subsequently manifested as B-cell acute lymphoblastic leukemia (B-ALL). Genomic analysis at AML diagnosis revealed a germline SAMD9 mutation together with somatic RUNX1 and PPM1D mutations, supporting stepwise clonal evolution, with...

Read the complete abstract on PubMed

Topics

Humans
Clonal Evolution
Fusion Proteins, bcr-abl
Myelodysplastic Syndromes
Chromosomes, Human, Pair 7

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Leukemia, Myeloid, Acute

Phenotype

Chromosome Deletion

Precursor B-Cell Lymphoblastic Leukemia-Lymphoma

Tumor Suppressor Proteins

Intracellular Signaling Peptides and Proteins

Mutation

Male

Source

Open in PubMed Open full text

Identifiers

PMID: 42533241
DOI: 10.1007/s12185-026-04248-5
PMCID: PMC13529899

Genes

ABL1
BCR
SAMD9
CD19
PPM1D
RUNX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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