t(6;21)(p22;q22) RUNX1-?

2003-02-01 Jean-Loup Huret Affiliation

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

Treatment related myelodysplastic syndrome (refractory anemia with excess of blasts: RAEB)

Etiology

RAEB occurred 60 w after diagnosis of an acute lymphoblastic leukemia treated with topoisomerase II inhibitors

Epidemiology

only one case to date, a 4 yr old female patient

Prognosis

the patient died 10 mths after diagnosis

Genes Involved and Proteins

Note

The gene in 6p22 is yet unknown, and, because cryptic t(12;21) ETV6 /AML1 are not rare, it is therefore uncertain whether this translocation involve a new AML1 partner

Gene name

RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))

Location

21q22.12

Dna rna description

transcription is from telomere to centromere

Protein description

contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes

Bibliography

Pubmed ID	Last Year	Title	Authors
10825008	2000	Concurrent translocations of MLL and CBFA2 (AML1) genes with new partner breakpoints in a child with secondary myelodysplastic syndrome after treatment of acute lymphoblastic leukemia.	Mathew S et al
11550288	2001	Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia.	Mathew S et al