PRDM16
MIM.605557 1p36.3
Pathology
The 3q21-q26 syndrome represents a recurrent translocation, inversion, or insertion between the regions 3q21 and 3q26 and is associated with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML).
The disorder is frequently characterized by trilineage dysplasia, in particular dysmegakaryocytopoiesis, and poor prognosis.
A similar type of MDS/AML has been reported with the recurrent t(1;3)(p36;q21) translocation. Near the breakpoint at 1p36.3, the gene PRDM16 has been identified, encoding a zinc finger protein with a PR domain that is highly homologous to the MDS1 (MIM.600049)/EVI1 (MIM.165215) genes.
References
Hazourli S, Chagnon P, Sauvageau M, Fetni R, Busque L, Hebert J. Overexpression of PRDM16 in the presence and absence of the RUNX1/PRDM16 fusion gene in myeloid leukemias. Genes Chromosomes Cancer. 2006 Nov;45(11):1072-6. PMID: 16900497
Bloomfield, C. D.; Garson, O. M.; Volin, L.; Knuutila, S.; de la Chapelle, A. : t(1;3)(p36;q21) in acute nonlymphocytic leukemia: a new cytogenetic-clinicopathologic association. Blood 66: 1409-1413, 1985. PubMed ID : 4063527
Mochizuki, N.; Shimizu, S.; Nagasawa, T.; Tanaka, H.; Taniwaki, M.; Yokota, J.; Morishita, K. : A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS1/EVI1 gene and is transcriptionally activated in t(1;3)(p36;q21)-positive leukemia cells. Blood 96: 3209-3214, 2000. PubMed ID : 11050005
Moir, D. J.; Jones, P. A.; Pearson, J.; Duncan, J. R.; Cook, P.; Buckle, V. J. : A new translocation, t(1;3)(p36;q21), in myelodysplastic disorders. Blood 64: 553-555, 1984. PubMed ID : 6743828
Secker-Walker, L. M.; Mehta, A.; Bain, B. : Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study. Brit. J. Haemat. 91: 490-501, 1995. PubMed ID : 8547101
Welborn, J. L.; Lewis, J. P.; Jenks, H.; Walling, P. : Diagnostic and prognostic significance of t(1;3)(p36;q21) in the disorders of hematopoiesis. Cancer Genet. Cytogenet. 28: 277-285, 1987. PubMed ID : 3476187