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Home > G. Tumoral pathology > Molecular pathology of tumors > Genetic anomalies > Cancer cytogenetics > Tumoral trisomies > tumoral trisomy 21

tumoral trisomy 21

Tuesday 29 May 2007

Trisomy 21 as an acquired clonal chromosome change has been described in 642 of the 10,625 human neoplasms with chromosome aberrations known from the cytogenetic literature. A total of 590 of the 642 cases (92%) are hematologic disorders and malignant lymphomas.

The incidence of trisomy 21 is similar (4.1%-6.7%) in acute myeloid leukemia (AML), chronic myeloid leukemia, myeloproliferative disorders, myelodysplastic syndromes, chronic lymphoproliferative disorders, and malignant lymphomas; it is substantially higher (14.8%) in acute lymphocytic leukemia (ALL).

In most cases, the extra chromosome 21 is present together with other numerical and/or structural changes.

Acquired trisomy 21 is the only karyotypic abnormality in only 0.4%.


- Watson MS, Carroll AJ, Shuster JJ, Steuber CP, Borowitz MJ, Behm FG, Pullen DJ, Land VJ. Trisomy 21 in childhood acute lymphoblastic leukemia: a Pediatric Oncology Group study (8602). Blood. 1993 Nov 15;82(10):3098-102. PMID: 8219201

- Mitelman F, Heim S, Mandahl N. Trisomy 21 in neoplastic cells. Am J Med Genet Suppl. 1990;7:262-6. PMID: 2149959