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t(1;22)(p13;q13) RBM15/MKL1

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
  

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

Other genes implicated (Data extracted from papers in the Atlas)

Genes MKL1 RBM15

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;22)(p13;q13) RBM15/MKL1

External links

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

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
 
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

Contributor(s)

Written08-1997Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers France
Updated01-1998Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers France
Updated11-1999Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers France
Updated06-2001Jean-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. 2001;5(3):196-197.
Free online version   Free pdf version   [Bibliographic record ]
History of this paper:
Huret, JL. t(1;22)(p13;q13). Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):196-197.
http://documents.irevues.inist.fr/bitstream/2042/37759/1/06-2001-t0122.pdf
Atlas Genet Cytogenet Oncol Haematol. January 1998
http://documents.irevues.inist.fr/bitstream/handle/2042/32029/08-1997-t0122.pdf
Atlas Genet Cytogenet Oncol Haematol. January 1998
URL : http://AtlasGeneticsOncology.org/Anomalies/t0122.html

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indexed on : Fri Jul 11 13:08:18 CEST 2014


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