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
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ICD-Morpho |
9920/3 Therapy-related myeloid neoplasms
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ICD-Morpho |
9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
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ICD-Morpho |
9989/3 Myelodysplastic syndrome, unclassifiable
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
Cancer genetics and cytogenetics. 1992 ; 64 (1) : 80-85. |
PMID 1458454 |
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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 |
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A new translocation, t(1;3) (p36;q21), in myelodysplastic disorders. |
Moir DJ, Jones PA, Pearson J, Duncan JR, Cook P, Buckle VJ |
Blood. 1984 ; 64 (2) : 553-555. |
PMID 6743828 |
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Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study. |
Secker-Walker LM, Mehta A, Bain B |
British journal of haematology. 1995 ; 91 (2) : 490-501. |
PMID 8547101 |
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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 |
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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 |
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