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

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Cytogenetic analysis in patients with primary myelodysplastic syndromes in leukaemic transformation. A report on 94 cases. Groupe Français de Cytogénétique Hématologique (GFCH).

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

PMID 8931999

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

Barbieri D, Vermaelen K, Van den Berghe H

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

PMID 6690021

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

Berger R, Flexor M, Le Coniat M, Derré J, Leblanc T

Cancer genetics and cytogenetics. 1995 ; 79 (2) : 130-132.

PMID 7889504

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

Structural rearrangements of chromosome 3 in 57 patients with acute myeloid leukemia: clinical, hematological and cytogenetic features.

Charrin C, Belhabri A, Treille-Ritouet D, Theuil G, Magaud JP, Fiere D, Thomas X

The hematology journal : the official journal of the European Haematology Association / EHA. 2002 ; 3 (1) : 21-31.

PMID 11960392

Molecular diagnosis of Philadelphia negative CML using the polymerase chain reaction and DNA analysis: clinical features and course of M-bcr negative and M-bcr positive CML.

Dobrovic A, Morley AA, Seshadri R, Januszewicz EH

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1991 ; 5 (3) : 187-190.

PMID 2013977

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

Fleischman EW, Volkova MA, Frenkel MA, Konstantinova LN, Kulagina OE, Baranov AE, Gordeeva AA

Cancer genetics and cytogenetics. 1996 ; 87 (2) : 182-184.

PMID 8625269

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

Herens C, Hermanne JP, Tassin F, Fassotte MF, Thiry A, Jamar M, Schaaf-Lafontaine N, Fillet G, Koulischer L

Cancer genetics and cytogenetics. 1999 ; 110 (1) : 62-64.

PMID 10198625

Abberant cytogenetic evolution pattern of Philadelphia-positive chronic myeloid leukemia treated with interferon-alpha.

Johansson B, Fioretos T, Billströ R, Mitelman F

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (7) : 1134-1138.

PMID 8683992

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.

PMID 1555200

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

Levaltier X, Penther D, Bastard C, Troussard X

British journal of haematology. 1996 ; 92 (4) : page 1027.

PMID 8616064

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.

PMID 11964274

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.

PMID 6575860

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.

PMID 11979548

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

Ng A, Taylor GM, Eden OB

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

PMID 10779995

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

Blood. 1996 ; 86 : page 740.

Nonrandom chromosome abnormalities in acute leukemia and dysmyelopoietic syndromes in patients with previously treated malignant disease.

Rowley JD, Golomb HM, Vardiman JW

Blood. 1981 ; 58 (4) : 759-767.

PMID 7272506

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.

PMID 15085164

The 5q-anomaly.

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

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

PMID 3891074

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

Whang-Peng J, Young RC, Lee EC, Longo DL, Schechter GP, DeVita VT Jr

Blood. 1988 ; 71 (2) : 403-414.

PMID 3337904

Recurrent chromosomal defects are found in most patients with acute nonlymphocytic leukemia.

Yunis JJ

Cancer genetics and cytogenetics. 1984 ; 11 (2) : 125-137.

PMID 6692334

Cytogenetic clonality analysis: typical patterns in myelodysplastic syndrome and acute myeloid leukaemia.

van Lom K, Hagemeijer A, Vandekerckhove F, Smit EM, Löwenberg B

British journal of haematology. 1996 ; 93 (3) : 594-600.

PMID 8652379

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)
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]

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)
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]

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