t(9;21)(q34;q22) RUNX1 truncated

Identity

ICD-Topo	C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho	9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id	1483

Clinics and Pathology

Disease	Acute myeloid leukaemia (AML)
Epidemiology	Only one case to date
Clinics	The patient was a 75 year old male patient with a myeloproliferative syndrome (MPS) in transformation to AML. The MPS was a 8p11 myeloproliferative syndrome (EMS)

Cytogenetics

Cytogenetics Morphological

The karyotype also comprised a t(8;22)(p11;q11) with BCR/ FGFR fusion, responsible for the EMS

Genes involved and Proteins

Note

RUNX1 was involved in the translocation. RUNX1, also called AML1 or CBFA2, is a transcription factor, critical regulator of hematopoietic-cell development, involved in many de novo and treatment related leukaemias. The exons 1-4 of RUNX1 were fused to repetitive sequences from chromosome 9, adding 70 amino acids to RUNX1 exon 4 encoding sequences, resulting in a truncated RUNX1. The t(9;21)/RUNX1 involvement may be responsible for the transformation of the EMS.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section.

Bibliography

Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome.

Agerstam H, Lilljebjörn H, Lassen C, Swedin A, Richter J, Vandenberghe P, Johansson B, Fioretos T

Genes, chromosomes & cancer. 2007 ; 46 (7) : 635-643.

PMID 17394134

Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL.

Fioretos T, Panagopoulos I, Lassen C, Swedin A, Billström R, Isaksson M, Strömbeck B, Olofsson T, Mitelman F, Johansson B

Genes, chromosomes & cancer. 2001 ; 32 (4) : 302-310.

PMID 11746971

Citation

This paper should be referenced as such :

Huret, JL

t(9;21)(q34;q22)

Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):141-141.

Free journal version : [ pdf ]   [ DOI ]

On line version : http://AtlasGeneticsOncology.org/Anomalies/t0921q34q22ID1483.html

Translocations implicated (Data extracted from papers in the Atlas)

	t(9;21)(q34;q22) RUNX1 truncated

External links

Mitelman database	t(9;21)(q34;q22) [Case List]    t(9;21)(q34;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMap	Topo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease database	t(9;21)(q34;q22) RUNX1 truncated

REVIEW articles	automatic search in PubMed
Last year articles	automatic search in PubMed
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indexed on : Mon Sep 18 17:19:55 CEST 2017

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