inv(3)(q21q26)

t(3;3)(q21;q26)

ins(3;3)(q26;q21q26)

Identity

Note	the three chromosome anomalies are variants of each other, and they share identical features
	inv(3)(q21q26) G-banding (top) - Courtesy Diane H. Norback, Eric B. Johnson, Sara Morrison-Delap Cytogenetics at theWaisman Center (left and middle) and Jean-Luc Lai and Alain Vanderhaegen, bottom: t(3;3)q21;q26) (bottom) G-banding (left) - Courtesy Diane H. Norback, Eric B. Johnson, Sara Morrison-Delap (left and center left), Jean-Luc Lai and Alain Vanderhaegen (middle) , and R-banding (middle right and right) - Courtesy Christiane Charrin

Clinics and Pathology

Disease	acute non lymphocytic leukemia (ANLL), often preceeded by myelodysplastic syndrome (MDS); MDS; may occur as additional anomaly in chronic myelognous leukemia (CML) with t(9;22), with thrombocytosis, often at the time of the blast crisis; has also been found in other myeloproliferative disorders
Phenotype / cell stem origin	ANLL of various subtypes (M1, M2, M4, M6,M7); MDS: often RAEB; an early stem cell, prior to lineage commitment, is implicated
Epidemiology	1M/1F; median age is 50 yrs
Clinics	blood data: elevated or normal (instead of low) platelets count; bone marrow: erythroid and megakaryocytic dysplasia, with micromegakaryocytes with hypolobulated nuclei
Cytology	CD34+,CD13+, CD33+, DR+, but also, coexpression of the T-cell characteristic CD7+, showing the multilineage involvement
Prognosis	median survival (from 66 cases herein reviewed) is only 4 mths

Cytogenetics

Additional anomalies

alone or with -7 in 30% of cases each; inv(3) can be an additional anomaly to t(9;22)(q34;q11) (20%), but, also, t(9;22) has been found additional to inv(3) !; del(5q) (10%)

Genes involved and Proteins

Gene Name	EVI1
Location	3q26

Gene Name	RPN1 (ribophorin 1)
Location	3q21

Result of the chromosomal anomaly

Hybrid gene

Description	RPN1enhancer juxtaposed to EVI1

External links

Other database	inv(3)(q21q26)	Mitelman database (CGAP - NCBI)
Other database	t(3;3)(q21;q26)	Mitelman database (CGAP - NCBI)
Other database	t(3;3)(q21;q26)	CancerChromosomes (NCBI)
Other database	ins(3;3)(q26;q21q26)	Mitelman database (CGAP - NCBI)

Bibliography

Acute leukemia with abnormal thrombopoiesis and inversions of chromosome 3.

Jenkins RB, Tefferi A, Solberg LA Jr, Dewald GW

Cancer genetics and cytogenetics. 1989 ; 39 (2) : 167-179.

PMID 2752370

Three new cases of chromosome 3 rearrangement in bands q21 and q26 with abnormal thrombopoiesis bring further evidence to the existence of a 3q21q26 syndrome.

Jotterand Bellomo M, Parlier V, Mˆºhlematter D, Grob JP, Beris P

Cancer genetics and cytogenetics. 1992 ; 59 (2) : 138-160.

PMID 1581880

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

Correlation of cytogenetic findings with clinical features in 18 patients with inv(3)(q21q26) or t(3;3)(q21;q26).

Fonatsch C, Gudat H, Lengfelder E, Wandt H, Silling-Engelhardt G, Ludwig WD, Thiel E, Freund M, Bodenstein H, Schwieder G

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1994 ; 8 (8) : 1318-1326.

PMID 8057667

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

Chromosomal abnormality inv(3)(q21q26) associated with multilineage hematopoietic progenitor cells in hematopoietic malignancies.

Shi G, Weh HJ, Dˆºhrsen U, Zeller W, Hossfeld DK

Cancer genetics and cytogenetics. 1997 ; 96 (1) : 58-63.

PMID 9209472

Contributor(s)

Written	10-1997	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . inv(3)(q21q26); t(3;3)(q21;q26); ins(3;3)(q26;q21q26). Atlas Genet Cytogenet Oncol Haematol. October 1997 . URL : http://AtlasGeneticsOncology.org/Genes/inv3.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Jul 14 16:32:27 2008

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