| Written | 1997-08 | Jean-Loup Huret |
| | Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Updated | 2000-11 | Pascale 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 |
| Updated | 2002-05 | Jay L Hess |
| | Department of Pathology, The University of Michigan, M5240 Medical Science I, 1301 Catherine Avenue, Ann Arbor, MI 48109-0602, USA |
| Updated | 2016-09 | Jean-Loup Huret |
| | Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France. jean-loup.huret@chu-poitiers.fr |
| ICD-Topo |
C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| 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 |
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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) |
| |
| 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 |
| 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. |
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| 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. |
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| 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. |
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| 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. |
| Marsden KA, Pearse AM, Collins GG, Ford DS, Heard S, Kimber RI |
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| 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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| PMID 6743828 |
| |
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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). |
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| PMID 10679911 |
| |
| Diagnostic and prognostic significance of t(1;3)(p36;q21) in the disorders of hematopoiesis. |
| Welborn JL, Lewis JP, Jenks H, Walling P |
| Cancer genetics and cytogenetics. 1987 ; 28 (2) : 277-285. |
| PMID 3476187 |
| |
