t(6;11)(q15;q23) KMT2A/?

2009-03-01   Jong Rak Choi , Tae Sung Park 

1.Department of Laboratory Medicine, Kyung Hee University College of Medicine, 1 Hoegi-dong, Dongdaemun-gu, Seoul 130-702, Korea (TSP); Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea (JRC)

Clinics and Pathology

Note

Only 4 cases to date, 3 of which do not provide further descriptions.

Phenotype stem cell origin

All cases were acute myeloid leukaemia (AML); AML-M0 (1 case), AML-M2 (1 case), AML-M4 (2 cases).

Epidemiology

All patients were female between the ages of 13 to 68 years.
Atlas Image
Multi-color FISH image showing t(6;11)(q15;q23).
Atlas Image
Bone marrow morphology from AML-M2 case with t(6;11)(q15;q23).

Prognosis

Very poor in 1 case (survival : only 2 weeks in AML-M2).

Cytogenetics

Cytogenetics morphological

It shows distinct balanced chromosomal abnormalities between chromosomes 6 and 11; however, it should be differentiated from t(6;11)(q13;q23) in association with MLL/ SMAP1 rearrangement.

Cytogenetics molecular

MLL breakapart FISH probe is very useful.

Additional anomalies

del(5)(q13q15) in 1 case, sole abnormality in remaining 3 cases.

Genes Involved and Proteins

Note
The gene involved in 6q15 is unknown.
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Note
More than 50 different translocation fusion partners in association with the MLL gene have been reported in the literature. In chromosome 6, t(6;11)(q27;q23) (MLL/AF6 rearrangement) is the most commonly encountered chromosomal abnormality. In contrast, t(6;11)(q13;q23) or t(6;11)(q15;q23) is the rarest type of MLL rearrangement involving the long arm of chromosome 6.

Bibliography

Pubmed IDLast YearTitleAuthors
156267572005Diagnostic tool for the identification of MLL rearrangements including unknown partner genes.Meyer C et al
189833032008Comparison of multiplex reverse transcription polymerase chain reaction and conventional cytogenetics as a diagnostic strategy for acute leukemia.Park JS et al
189926432008MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities.Park TS et al
159213752005Analysis of balanced rearrangements of chromosome 6 in acute leukemia: clustered breakpoints in q22-q23 and possible involvement of c-MYB in a new recurrent translocation, t(6;7)(q23;q32 through 36).Sinclair P et al
81238531994Analysis of treatment failure in patients with minimally differentiated acute myeloid leukemia (AML-M0).Stasi R et al

Summary

Atlas Image
Giemsa-banding partial karyograms of t(6;11)(q15;q23). (Each left side chromosomes 6 and 11: normal, each right side chromosomes 6 and 11: derivative chromosome).

Citation

Jong Rak Choi ; Tae Sung Park

t(6;11)(q15;q23) KMT2A/?

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/haematological/1522/t(6;11)(q15;q23)

External Links