t(2;3)(p15-23;q26-27) ?/MECOM

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t(2;3)(p15-23;q26-27) ?/MECOM

Written	2004-05	Marian Stevens-Kroef
		Clinical Cytogeneticist, UMC St. Radboud, Dept. Human Genetics, Div. Cytogenetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
Updated	2005-08	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

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 1274

Note There are 2 subtypes of the t(2p;3q); in one type the breakpoint on chromosome 2 is assigned to bands 2p21-23, whereas the breakpoint for the other type of breakpoint is localized at 2p15-21.

Partial GTG (Marian Stevens-Kroef, left) and RFA (Anne Hagemeijer, right) banded karyotypes of t(2;3)( p15-23;q26-27) with the distal (A) and proximal (B) breakpoint on chromosome 2.

Clinics and Pathology

Disease Myeloid malignancies: myelodysplastic syndrome (MDS) in 1/4 of cases, with various FAB diagnoses (refractory anaemia (RA), RA with ringed sideroblasts (RARS), RA with excess of blasts (RAEB), RAEB in transformation (RAEB-t), and chronic myelomonocytic leukemia (CMML)), acute myeloid leukaemia (AML) in 60% of cases (M2-AML in 1/4 of all cases), blast crisis of a chronic myelogenous leukaemia (BC-CML) in about 10% of cases

Etiology 1/4 of cases were therapy related leukemias, and 10% were BC-CML cases

Epidemiology At least 50 cases described; sex ratio: 1.33 M/F; median age around 50 yrs, most patients being between 30 and 70 yr old (range 3-80 yrs).

Cytology High platelet count, dysmegakaryopoiesis, and multilineage dysplasia in 80 to 90% of cases

Prognosis Median survival 12 months (range 1-53 mths), with a few patients surviving with bone marrow transplantation.

Cytogenetics

Note Heterogeneous breakpoints by cytogenetic and FISH analysis; FISH mapping of 2p breakpoints was very heterogeneous ranging from p14 or p15 to p23; FISH mapping of the 3q breakpoint was within the EVI1-MDS region (between RP11-694D5 (centromeric) and RP11-362K14 (telomeric) in the great majority of cases.

Additional anomalies Sole anomaly in 40%, associated with -7 in 30%, with del(5q) in 15%, with del(7q) in 10%, with t(9;22)(q34;q11) in 10%, and with a complex karyotype in 20% of cases.

Genes involved and Proteins

Note Molecular analysis has been performed in only a very few cases. In most of these, ectopic expression of EVI1 was demonstrated, but rare cases seem not to involve this gene. Therefore, characteristics of EVI1 involvement (high platelet count, multilineage dysplasia, monosomy 7, prior history of carcinogen exposure and a poor prognosis) may not be present in further cases with apparently the same breakpoints.
The gene(s) involved in chromosome 2 is/are unknown

Gene Name MECOM (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1-EVI1)

Location 3q26.2

Note There is a direct correlation between mapping of the 3q breakpoint in the above given EVI1-MDS region and EVI1 ectopic expression by RT-PCR. Rare case with 3q break outside this interval failed to show ectopic expression of EVI1.

Dna / Rna EVI1 contains 12 exons.

Protein EVI1 may play an important role in organogenesis, cell migration, cell growth, and differentiation.

Bibliography

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Hematology and cell therapy. 1996 ; 38 (2) : 177-181.

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Preliminary data on the in vitro proliferation pattern and karyotypic characteristics in cells of patients with AML.

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Cancer genetics and cytogenetics. 1984 ; 11 (1) : 1-9.

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Translocation (2;3)(p22;q28) is associated with myeloid disorders.

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Rearrangements of chromosome 3 involving bands 3q21 and 3q26 are associated with normal or elevated platelet counts in acute nonlymphocytic leukemia.

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Blood. 1985 ; 66 (6) : 1362-1370.

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Translocation (2;3)(p13;q26) in two cases of myeloid malignancies. Acute myeloblastic leukemia (M2) and blastic phase of chronic myeloid leukemia.

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Translocation (2;3)(p21;q26) as the sole anomaly in a case of primary myelofibrosis.

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t(2;3)(p13;q26) in a case of chronic myeloid leukemia. Importance of the involvement of 3q26.

Kwong YL, Chan LC, Lie KW

Cancer genetics and cytogenetics. 1992 ; 59 (1) : 95-96.

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t(2;3)(p23;q26) in a patient with AML M2.

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Distinct clinical outcomes for cytogenetic abnormalities evolving from aplastic anemia.

Maciejewski JP, Risitano A, Sloand EM, Nunez O, Young NS

Blood. 2002 ; 99 (9) : 3129-3135.

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3q-, 3q+ anomaly in malignant proliferations in humans.

Mecucci C, Vermaelen K, Tricot G, Louwagie A, Michaux JL, Bosly A, Thomas J, Barbieri D, Van den Berghe H

Cancer genetics and cytogenetics. 1983 ; 9 (4) : 376-381.

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Spectral karyotyping in patients with acute myeloid leukemia and a complex karyotype shows hidden aberrations, including recurrent overrepresentation of 21q, 11q, and 22q.

Mrózek K, Heinonen K, Theil KS, Bloomfield CD

Genes, chromosomes & cancer. 2002 ; 34 (2) : 137-153.

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Secondary leukemia in a child with neuroblastoma while on oral etoposide: what is the cause?

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Pediatric hematology and oncology. 2000 ; 17 (3) : 273-279.

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Translocation t(2;3)(p21-22;q26) and myeloid disorders: FISH analysis and molecular study.

Raynaud SD, Parganas E, Schell U, Grosgeorges J, Nucifora G, Barin C, et al

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Translocation t(2;3)(p15-23;q26-27) in myeloid malignancies: report of 21 new cases, clinical, cytogenetic and molecular genetic features.

Stevens-Kroef M, Poppe B, van Zelderen-Bhola S, van den Berg E, van der Blij-Philipsen M, Geurts van Kessel A, Slater R, Hamers G, Michaux L, Speleman F, Hagemeijer A

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2004 ; 18 (6) : 1108-1114.

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The 5q-anomaly.

Van den Berghe H, Vermaelen K, Mecucci C, Barbieri D, Tricot G

Cancer genetics and cytogenetics. 1985 ; 17 (3) : 189-255.

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Cytogenetic studies in patients with secondary leukemia/dysmyelopoietic syndrome after different treatment modalities.

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Citation

This paper should be referenced as such :

Huret, JL

t(2;3)(p15-23;q26-27)

Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):9-11.

Free journal version : [ pdf ] [ DOI ]

On line version : http://AtlasGeneticsOncology.org/Anomalies/t0203p23q26ID1274.html

History of this paper:

Stevens-Kroef, M. t(2;3)(p15-23;q26-27). Atlas Genet Cytogenet Oncol Haematol. 2004;8(3):243-244.

http://documents.irevues.inist.fr/bitstream/handle/2042/38111/05-2004-t0203p23q26ID1274.pdf

Translocations implicated (Data extracted from papers in the Atlas)

t(2;3)(p15;q26) ?/MECOM

External links

Mitelman database t(2;3)(p15;q26) [Case List] t(2;3)(p15;q26) [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments]

arrayMap Topo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments]

arrayMap Topo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments]

arrayMap Topo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments]

Disease database t(2;3)(p15-23;q26-27) ?/MECOM

REVIEW articles automatic search in PubMed

Last year articles automatic search in PubMed

All articles automatic search in PubMed

Home Genes Leukemias Solid Tumors Cancer-Prone Deep Insight Case Reports Journals Portal Teaching

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.

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	1274
Note	There are 2 subtypes of the t(2p;3q); in one type the breakpoint on chromosome 2 is assigned to bands 2p21-23, whereas the breakpoint for the other type of breakpoint is localized at 2p15-21.


	Partial GTG (Marian Stevens-Kroef, left) and RFA (Anne Hagemeijer, right) banded karyotypes of t(2;3)( p15-23;q26-27) with the distal (A) and proximal (B) breakpoint on chromosome 2.

Disease	Myeloid malignancies: myelodysplastic syndrome (MDS) in 1/4 of cases, with various FAB diagnoses (refractory anaemia (RA), RA with ringed sideroblasts (RARS), RA with excess of blasts (RAEB), RAEB in transformation (RAEB-t), and chronic myelomonocytic leukemia (CMML)), acute myeloid leukaemia (AML) in 60% of cases (M2-AML in 1/4 of all cases), blast crisis of a chronic myelogenous leukaemia (BC-CML) in about 10% of cases
Etiology	1/4 of cases were therapy related leukemias, and 10% were BC-CML cases
Epidemiology	At least 50 cases described; sex ratio: 1.33 M/F; median age around 50 yrs, most patients being between 30 and 70 yr old (range 3-80 yrs).
Cytology	High platelet count, dysmegakaryopoiesis, and multilineage dysplasia in 80 to 90% of cases
Prognosis	Median survival 12 months (range 1-53 mths), with a few patients surviving with bone marrow transplantation.

Note	Heterogeneous breakpoints by cytogenetic and FISH analysis; FISH mapping of 2p breakpoints was very heterogeneous ranging from p14 or p15 to p23; FISH mapping of the 3q breakpoint was within the EVI1-MDS region (between RP11-694D5 (centromeric) and RP11-362K14 (telomeric) in the great majority of cases.
Additional anomalies	Sole anomaly in 40%, associated with -7 in 30%, with del(5q) in 15%, with del(7q) in 10%, with t(9;22)(q34;q11) in 10%, and with a complex karyotype in 20% of cases.

Gene Name	MECOM (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1-EVI1)
Location	3q26.2
Note	There is a direct correlation between mapping of the 3q breakpoint in the above given EVI1-MDS region and EVI1 ectopic expression by RT-PCR. Rare case with 3q break outside this interval failed to show ectopic expression of EVI1.
Dna / Rna	EVI1 contains 12 exons.
Protein	EVI1 may play an important role in organogenesis, cell migration, cell growth, and differentiation.

Mitelman database	t(2;3)(p15;q26) [Case List] t(2;3)(p15;q26) [Association List] Mitelman database (CGAP - NCBI)
arrayMap	Topo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments]


Disease database	t(2;3)(p15-23;q26-27) ?/MECOM

REVIEW articles	automatic search in PubMed
Last year articles	automatic search in PubMed
All articles	automatic search in PubMed