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t(12;13)(p13;q12)

Tuesday 29 January 2008

The t(12;13)(p13;q12) is a rare, recurrent translocation reported in a range of hematological malignancies.

Molecular biology

- ETV6/CDX2 fusion gene

  • ETV6 at 12p13
  • CDX2 at 13q12

Tumors

- acute myeloid leukemia (9920852)
- atypical chronic myeloproliferative disorder (7861615)

t(12;13)

Translocations between the long arm of chromosome 13 and the short arm of chromosome 12 are rare nonrandom abnormalities in acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), secondary AML, myelodysplastic syndrome, and blast crisis of chronic myeloid leukemia (CML-BC).

The breakpoints are reported to vary from 12p11 to 12p13 and from 13q11 to 13q14 but it is uncertain whether this represents a true heterogeneity at the molecular level.

The region 13q12-14 is also the site of other abnormalities associated with hematological malignancies, such as the t(8;13)(p11;q12) or the interstitial deletions that are often seen in patients with chronic lymphocytic leukemia or primary myelofibrosis.

Rearrangements of 12p (deletions and balanced or unbalanced translocations) are common findings in diverse hematological malignancies.

In many cases, 12p13 rearrangements target ETV6 (initially called TEL), a gene that has been reported to form fusions with multiple partners: PDGFRB, MN1, ABL, CBFA2 (AML1), MDS1/EVI1, STL, and JAK2.

In many cases the normal ETV6 allele is deleted in patients with these abnormalities.

References

- Rawat VP, Cusan M, Deshpande A, Hiddemann W, Quintanilla-Martinez L, Humphries RK, Bohlander SK, Feuring-Buske M, Buske C. Ectopic expression of the homeobox gene Cdx2 is the transforming event in a mouse model of t(12;13)(p13;q12) acute myeloid leukemia. Proc Natl Acad Sci U S A. 2004 Jan 20;101(3):817-22. PMID: 14718672

- Iijima Y, Ito T, Oikawa T, Eguchi M, Eguchi-Ishimae M, Kamada N, Kishi K, Asano S, Sakaki Y, Sato Y. A new ETV6/TEL partner gene, ARG (ABL-related gene or ABL2), identified in an AML-M3 cell line with a t(1;12)(q25;p13) translocation. Blood. 2000 Mar 15;95(6):2126-31. PMID: 10706884

- Chase A, Reiter A, Burci L, Cazzaniga G, Biondi A, Pickard J, Roberts IA, Goldman JM, Cross NC. Fusion of ETV6 to the caudal-related homeobox gene CDX2 in acute myeloid leukemia with the t(12;13)(p13;q12). Blood. 1999 Feb 1;93(3):1025-31. PMID: 9920852

- Chiyoda S, Morikawa T, Takahara O. [Atypical chronic myeloproliferative disorder with translocation (12;13) (p13;q12) and tumor formation]Rinsho Ketsueki. 1994 Dec;35(12):1355-60. Japanese. PMID: 7861615