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t(1;3)(p36;q21) PSMD2::PRDM16 ???

Written2016-09Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France.
This article is an update of :
2002-05Jay L Hess
Department of Pathology, The University of Michigan, M5240 Medical Science I, 1301 Catherine Avenue, Ann Arbor, MI 48109-0602, USA
2000-11Pascale Cornillet-Lefebvre, Sylvie Daliphard, Stéphanie Struski
Laboratory of Hematology, Robert Debré Hospital, Medical Faculty (UPRES EA 20-70-IFR 53 Biomolecules), 51092, Reims Cedex, France
1997-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1002
Note This entity probably does not exist:
1- PSMD2 sits in 3q27, while the breakpoint is in 3q21;
2- PSMD2, a protein of the proteasome is well known by its alias, RPN1, while the true RPN1, a protein involved in N-glycosylation, sitting in 3q21, is better known by its full name: Ribophorin I.
The translocation is therefore likely to be t(1;3)(p36;q21) RPN1/PRDM16
  t(1;3)(p36;q21) G-banding (left) - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services; R-banding (right) Courtesy Pascale Cornillet-Lefebvre and Stéphanie Struski (above) and Christiane Charrin (below)

Clinics and Pathology

Disease Myeloid lineage (MDS, AML, therapy related AML, CML, MPD); features similar to those of the 3q21q26 syndrome including normal or elevated platelet count at diagnosis, megakaryocytic hyperplasia and dysplasia. Very rarely in lymphoid lineage
Phenotype / cell stem origin of 39 cases, there were: 22 myelodysplastic syndromes (MDS) (17/22 transformed into refractory acute myeloid leukemia (AML) of -M1 or -M4 type), 8 de novo AML, 3 therapy-related MDS, 2 polycythemia vera, 1 essential thrombocythemia, 1 chronic myelogenous leukemia (CML), 1 multiple myeloma, 1 waldenstrom's macroglobulinemia
Epidemiology patients are aged: 30-80 yrs
Clinics Roughly 50% of patients present with MDS, another 10% with therapy associated MDS, 25% with de novo AML, and the remainder with a range of other myeloproliferative disorders. The majority of MDS patients transform into AML with a short preleukemic phase.
Blood data: frequent thrombocytosis or normal platelet count
Cytology frequently characterized by dysmegakaryocytopoiesis
Pathology The pathology is typical of MDS, often with a prominent monocytic component. Trilineage dysplasia. Acute leukemias that evolve usually show the morphology of M4 AML.
Treatment Patients are treated with conventional chemotherapy for AML.
Prognosis Very poor so far: from 16 cases, median survival was 6 mths in AML, 20 mths in MDS


Note Other rearrangements showing similar clinical features include inv(3)(q21q26), t(3;3)(q21;q26), t(3;5)(q21;q31), t(3;8)(q21;q24), and t(3;21)(q26;q22). The breakpoints in 3q21 cluster in a 50 kb region centromeric to the breakpoint in inv(3)(q21;q26) and the ribophorin gene (RPN1). The breakpoints at 1p36 are clustered in a 90 kb region at 1p36.3.
Additional anomalies del (5q) in 5 of 20 cases (1/4)

Genes involved and Proteins

Note Mechanisms of Oncogenesis : The available data suggest that transcription of MEL1 (MDS1/EVI1 -like gene) is activated as a result of translocation bringing the gene just 3' to RPN1 gene at 3q21. MEL1 is a 1257 amino acid protein that is homologous (63% similar in amino acid sequence) to EVI. The mechanism of activation of MEL1 is similar to EVI1 that is activated by juxtaposition 3' to RPN1 in the t(3;3)(q21;q26) and 5' to RPN1 in the inv(3)(q2126). It appears that MEL1 is normally expressed in uterus and kidney and not in normal hematopoietic cells or in leukemias that lack the t(1;3)(p36;q31 The MEL1 protein contains 2 DNA binding domains (7 C2H2 zinc finger repeats at the amino terminus and 3 zinc finger repeats at the carboxyl terminus). The amino terminal domain of MEL1 contains a PRD domain, a motif also found in the same location in the MDS1/EV1 protein but not in MDS1). This is of interest because this domain is also found in RIZ, PRDI-BF1, and egl-43 and is homologous to the SET (Suvar3-9, Enhancer of zeste, Trithorax) domain that present in MLL. Inclusion of this domain in EVI1 appears to convert EVI1 from a transcriptional repressor to an activator. Therefore MEL1 may be a transcriptional activator. The target genes of MEL1 have not been identified.


Rearrangements of chromosome 3 involving bands 3q21 and 3q26 are associated with normal or elevated platelet counts in acute nonlymphocytic leukemia.
Bitter MA, Neilly ME, Le Beau MM, Pearson MG, Rowley JD
Blood. 1985 ; 66 (6) : 1362-1370.
PMID 4063525
t(1;3)(p36;q21) in acute nonlymphocytic leukemia: a new cytogenetic-clinicopathologic association.
Bloomfield CD, Garson OM, Volin L, Knuutila S, de la Chapelle A
Blood. 1985 ; 66 (6) : 1409-1413.
PMID 4063527
Clinical, haematological and cytogenetic features in 24 patients with structural rearrangements of the Q arm of chromosome 3.
Grigg AP, Gascoyne RD, Phillips GL, Horsman DE
British journal of haematology. 1993 ; 83 (1) : 158-165.
PMID 8435325
The PR domain of the Rb-binding zinc finger protein RIZ1 is a protein binding interface and is related to the SET domain functioning in chromatin-mediated gene expression.
Huang S, Shao G, Liu L
The Journal of biological chemistry. 1998 ; 273 (26) : 15933-15939.
PMID 9632640
Acute leukemia with t(1;3)(p36;q21), evolution to t(1;3)(p36;q21), t(14;17)(q32;q21), and loss of red cell A and Le(b) antigens.
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Cancer genetics and cytogenetics. 1992 ; 64 (1) : 80-85.
PMID 1458454
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 new translocation, t(1;3) (p36;q21), in myelodysplastic disorders.
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Blood. 1984 ; 64 (2) : 553-555.
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PMID 8547101
Identification of breakpoint cluster regions at 1p36.3 and 3q21 in hematologic malignancies with t(1;3)(p36;q21).
Shimizu S, Suzukawa K, Kodera T, Nagasawa T, Abe T, Taniwaki M, Yagasaki F, Tanaka H, Fujisawa S, Johansson B, Ahlgren T, Yokota J, Morishita K
Genes, chromosomes & cancer. 2000 ; 27 (3) : 229-238.
PMID 10679911
Diagnostic and prognostic significance of t(1;3)(p36;q21) in the disorders of hematopoiesis.
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PMID 3476187


This paper should be referenced as such :
Jean-Loup Huret
t(1;3)(p36;q21) PSMD2/PRDM16 ???
Atlas Genet Cytogenet Oncol Haematol. 2017;21(6):220-222.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Huret, JL. t(1;3)(p36;q21). Atlas Genet Cytogenet Oncol Haematol. 1997;1(1):16-16.
Cornillet-Lefebvre, P ; Daliphard, S ; Struski, S. t(1;3)(p36;q21). Atlas Genet Cytogenet Oncol Haematol. 2001;5(1):29-30.
Hess, JL. t(1;3)(p36;q21). Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):227-228.

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes PRDM16

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;3)(p36;q21) PSMD2/PRDM16

External links

Mitelman databaset(1;3)(p36;q21)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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