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Article

Trisomy 4 leading to duplication of a mutated KIT allele in acute myeloid leukemia with mast cell involvement.

Cancer genetics and cytogenetics - 1 May 2000

Beghini A, Ripamonti C B, Castorina P, Pezzetti L, Doneda L, Cairoli R, Morra E, Larizza L

Abstract excerpt

A G-->T transversion at nucleotide 2467 of the c-KIT gene leading to Asp816-->Tyr (D816Y) substitution in the phosphotransferase domain has been previously identified in a patient with rapidly progressing AML-M2 and mast cell involvement; the patient's blasts had a 47,XY, +4,t(8;21)(q22;q22) karyotype. Herein we confirm the simultaneous presence of both major chromosomal changes by multicolor fluorescence in situ...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 10812167
DOI: 10.1016/s0165-4608(99)00221-6

Genes

KIT
MET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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