t(2;11)(p21;q23)

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t(2;11)(p21;q23)

Identity



	t(2;11)(p21;q23) G- banding (left) - Courtesy Eric Crawford, and R- banding (Editor)

Clinics and Pathology

Disease	myelodysplastic syndromes (MDS), acute non lymphocytic leukemia (ANLL) and acute lymphoblastic leukemia (ALL)
Phenotype / cell stem origin	20 cases were documented, 14 of them were MDS; in three cases, type of MDS was not described; the remaining cases were: 2 AISA, 5 RA and 4 RAEB; in 6 patients, MDS has transformed into ANLL (M1, M5a, M6 and unidentified); in 6 cases acute leukemia was diagnosed : 4 ANLL, 2 ALL; ANLL FAB-types were: M0 evolving into M4, M1, M2 and atypical M3
Epidemiology	male predominance: 13 M:7 F; the majority of patients (16 out of 20) were over 50 years of age and 8 of them were over 60 years of age
Clinics	variable
Prognosis	due to heterogeneity of cases and lack of molecular data, the prognostic importance of t(2;11)(p21;q23) cannot be assessed; in 6 cases of MDS transformation into ANLL, MDS phase varied from 18 mths to 5 yrs; in 4 out of 5 ANLL cases treated in 1986-1993, remission duration varied from 6 to 13 mths

Cytogenetics

Cytogenetics Morphological	a high variability of breakpoints on both chromosome 2 (2p16-2p21) and chromosome 11 (11q13-11q25) were found by conventional cytogenetics
Cytogenetics Molecular	MLL gene involvement was observed in 2 out of 3 cases studied
Additional anomalies	additional abnormalities were observed in 10 out of 20 cases; in 8 cases, del(5)(q13q33) is found; it is of note, that deletions of 5q usually are not seen in cases with MLL-associated translocations

Genes involved and Proteins

Note	the gene involved in 2p in unknown

Gene Name	MLL
Location	11q23
Dna / Rna	37 exons, spanning about 120 kb; 13-15 mRNA
Protein	431 kD; transcriptional regulatory factor, nuclear localization; Contains two DNA binding motifs (a AT hook and zinc fingers), a DNA methyl transferase motif

Result of the chromosomal anomaly

Hybrid gene

Description	unknown

Fusion Protein

Description	unknown

External links

Other database	t(2;11)(p21;q23)	Mitelman database (CGAP - NCBI)

Bibliography

A 2p;11q chromosome translocation in dysmyelopoietic preleukemia.

Feder M, Finan J, Besa E, Nowell P

Cancer genetics and cytogenetics. 1985 ; 15 (1-2) : 143-150.

Translocation (2;11) (p21;q23) in acute non-lymphocytic leukaemia: a non-random association.

de la Chapelle A, Knuutila S, Elonen E

Scandinavian journal of haematology. Supplementum. 1986 ; 45 : 91-97.

Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

Thirman MJ, Gill HJ, Burnett RC, Mbangkollo D, McCabe NR, Kobayashi H, Ziemin-van der Poel S, Kaneko Y, Morgan R, Sandberg AA

The New England journal of medicine. 1993 ; 329 (13) : 909-914.

MLL is involved in a t(2;11)(p21;q23) in a patient with acute myeloblastic leukemia.

Fleischman EW, Reshmi S, Frenkel MA, Konovalova WI, Guleva GP, Kulagina OE, Konstantinova LN, Tupitsyn NN, Rowley JD

Genes, chromosomes & cancer. 1999 ; 24 (2) : 151-155.

Contributor(s)

Written	01-2000	Elena W Fleischman
		Cancer Research Center, Moscow, Russia

This paper should be referenced as such :

Fleischman EW . t(2;11)(p21;q23). Atlas Genet Cytogenet Oncol Haematol. January 2000 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t0211ID1109.html

This paper is referenced by INIST as such :

http://documents.irevues.inist.fr/bitstream/2042/37584/1/01-2000-t0211ID1109.pdf [ Bibliographic record ]

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indexed on : Sat Mar 9 12:36:52 CET 2013

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