t(1;22)(p13;q13)

Identity

	t(1;22)(p13;q13) G- and R- banding

Clinics and Pathology

Disease	only found so far in M7 ANLL (acute megakaryocytic leukaemia); not found in Down syndrome (DS), and yet, DS is a disease with highly elevated risk of M7 (see leukaemia and Down Syndrome); misdiagnoses of a solid tumour have been documented
Phenotype / cell stem origin	megakaryocytic
Etiology	no known toxic exposure
Epidemiology	about 40 known cases; 0% to 3% of paediatric ANLL; 70 to 100% of infants M7; age: infants: median age 4 mths; 20% are < 1mth; 80% are < 1 yr; 95% are < 2 yrs; sex ratio: 15M/24F (non significant)
Clinics	no preceeding myelodysplasia, and no history of transient leukemoid reaction; prominent organomegaly; blood data: moderate WBC; thrombocytopenia; myelofibrosis and fibrosis of other organs
Cytology	platelet-specific markers: platelet-peroxidase by electron microscopy, or platelet glycoproteins IIb/IIIa (CD41) or IIIa (CD61)
Treatment	bone marrow transplantation is indicated
Prognosis	complete remission in only 50% of cases; median survival: 8 months; a few long survivors; absence of a prognostic indicator

Cytogenetics

Additional anomalies

60% of cases (mostly patients under 6 mths of age) have the t(1;22) as a single anomaly; the remaining third of cases (mainly patients above the age of 6 mths) exhibit complex and hyperploid clones, with a highly monomorph pattern: +2, +19, +der(1)t(1;22), +6, +21 were found in more than 50% of cases each, +10, +7, +15, +18, +8, +20, del(1p), +4, +9, +14, +17, add(21p) are also recurrent; survival was equivalent in cases with or without a complex karyotype; the frequent presence of an additional der(1) indicates that the crucial event is likely to lie on the der(1)t(1;22)

Variants

2 cases of complex t(1;22) with a third chromosome have been described

Genes involved and Proteins

Gene Name	OTT (one twenty-two)
Location	1p13
Protein	contains RNA recognition motif consensus

Gene Name	MAL (megakaryocytic acute leukemia)
Location	22q13
Protein	931 amino acids; could attach DNA to nuclear scaffold and be involved in chromatin organization

Result of the chromosomal anomaly

Hybrid gene

Description	5' OTT - 3' MAL, comprisng most of OTT fused to most of MAL; the reciprocal 5' MAL - 3' OTT may or may not be present

Fusion Protein

Oncogenesis	may modulate chromatin organization, HOX differentiation pathways, or extracellular signaling

External links

Other database	t(1;22)(p13;q13)	Mitelman database (CGAP - NCBI)
Other database	t(1;22)(p13;q13)	CancerChromosomes (NCBI)

To be noted

individual data on the 39 published cases of t(1;22) and a complete bibiography can be found in our t(1;22) study group page

Bibliography

The t(1;22) (p13;q13) is nonrandom and restricted to infants with acute megakaryoblastic leukemia: a Pediatric Oncology Group Study.

Carroll A, Civin C, Schneider N, Dahl G, Pappo A, Bowman P, Emami A, Gross S, Alvarado C, Phillips C

Blood. 1991 ; 78 (3) : 748-752.

PMID 1859887

The translocation t(1;22)(p13;q13) is a nonrandom marker specifically associated with acute megakaryocytic leukemia in young children.

Lion T, Haas OA, Harbott J, Bannier E, Ritterbach J, Jankovic M, Fink FM, Stojimirovic A, Herrmann J, Riehm HJ

Blood. 1992 ; 79 (12) : 3325-3330.

PMID 1596573

Acute megakaryocytic leukemia with the t(1;22)(p13;q13).

Lion T, Haas OA

Leukemia & lymphoma. 1993 ; 11 (1-2) : 15-20.

PMID 8220150

Clinical and prognostic significance of chromosomal abnormalities in childhood acute myeloid leukemia de novo.

Martinez-Climent JA, Lane NJ, Rubin CM, Morgan E, Johnstone HS, Mick R, Murphy SB, Vardiman JW, Larson RA, Le Beau MM

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1995 ; 9 (1) : 95-101.

PMID 7845034

Nineteen cases of the t(1;22)(p13;q13) acute megakaryblastic leukaemia of infants/children and a review of 39 cases: report from a t(1;22) study group.

Bernstein J, Dastugue N, Haas OA, Harbott J, Heerema NA, Huret JL, Landman-Parker J, LeBeau MM, Leonard C, Mann G, Pages MP, Perot C, Pirc-Danoewinata H, Roitzheim B, Rubin CM, Slociak M, Viguie F

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (1) : 216-218.

PMID 10637500

Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia.

Mercher T, Coniat MB, Monni R, Mauchauffe M, Nguyen Khac F, Gressin L, Mugneret F, Leblanc T, Dastugue N, Berger R, Bernard OA

Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (10) : 5776-5779.

PMID 11344311

Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia.

Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, Bouman D, Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GC, Chan LC, Squire J, Scherer SW, Hitzler JK

Nature genetics. 2001 ; 28 (3) : 220-221.

PMID 11431691

Contributor(s)

Written	08-1997	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers France

Citation

This paper should be referenced as such :

Huret JL . t(1;22)(p13;q13). Atlas Genet Cytogenet Oncol Haematol. August 1997 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0122.html

Huret JL . t(1;22)(p13;q13). Atlas Genet Cytogenet Oncol Haematol. . URL : http://AtlasGeneticsOncology.org/Anomalies/t0122.html

Huret JL . t(1;22)(p13;q13). Atlas Genet Cytogenet Oncol Haematol. . URL : http://AtlasGeneticsOncology.org/Anomalies/t0122.html

Huret JL . t(1;22)(p13;q13). Atlas Genet Cytogenet Oncol Haematol. . URL : http://AtlasGeneticsOncology.org/Anomalies/t0122.html

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