| Entity | t(1;3)(p36;q21) myeloid leukemias --> involving RPN1 and MEL1 |
| Disease | myelodysplastic syndromes (MDS), acute non lymphoblastic leukemias (ANLL), therapy-related leukemias and myeloprolifrative syndromes; with features similar to those of the 3q21q26 syndrome, including megakaryocytic dysplasia (see also 3q rearrangements in myeloid malignancies). |
| Prognosis | very poor |
| Hybrid/Mutated Gene | juxtaposition of the enhancer of the constitutively expressed housekeeping gene RPN1, normally sitting in 3q21, in 5' of MEL1 on der(1); both genes are orientated telomere to centromere; the same situation occurs between RPN1 in 5' of EVI1 in the t(3;3)(q21;q26) ) |
| Oncogenesis | the translocation results in either an ectopic expression of MEL1 driven by RPN1or by disruption of its PR domain; this probable heterogenity may be associated with different clinical features. The short form, MEL1S, is mainly expressed |
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| Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas. |
| Weterman MA, Wilbrink M, Geurts van Kessel A |
| Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (26) : 15294-15298. |
| PMID 8986805 |
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| 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. |
| Mochizuki N, Shimizu S, Nagasawa T, Tanaka H, Taniwaki M, Yokota J, Morishita K |
| Blood. 2000 ; 96 (9) : 3209-3214. |
| PMID 11050005 |
| |
| A novel EVI1 gene family, MEL1, lacking a PR domain (MEL1S) is expressed mainly in t(1;3)(p36;q21)-positive AML and blocks G-CSF-induced myeloid differentiation. |
| Nishikata I, Sasaki H, Iga M, Tateno Y, Imayoshi S, Asou N, Nakamura T, Morishita K |
| Blood. 2003 ; 102 (9) : 3323-3332. |
| PMID 12816872 |
| |
| Breakpoints at 1p36.3 in three MDS/AML(M4) patients with t(1;3)(p36;q21) occur in the first intron and in the 5' region of MEL1. |
| Xinh PT, Tri NK, Nagao H, Nakazato H, Taketazu F, Fujisawa S, Yagasaki F, Chen YZ, Hayashi Y, Toyoda A, Hattori M, Sakaki Y, Tokunaga K, Sato Y |
| Genes, chromosomes & cancer. 2003 ; 36 (3) : 313-316. |
| PMID 12557231 |
| |
| Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells. |
| Lahortiga I, Agirre X, Belloni E, Vˆ°zquez I, Larrayoz MJ, Gasparini P, Lo Coco F, Pelicci PG, Calasanz MJ, Odero MD |
| Oncogene. 2004 ; 23 (1) : 311-316. |
| PMID 14712237 |
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