Download Leukaemia Section inv(3)(q21q26) t(3;3)(q21;q26) ins(3;3)(q26;q21q26)

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Leukaemia Section
Mini Review
inv(3)(q21q26)
t(3;3)(q21;q26)
ins(3;3)(q26;q21q26)
Jean-Loup Huret
Genetics, Department of Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021
Poitiers, France
Published in Atlas Database: October 1997
Online version is available at: http://AtlasGeneticsOncology.org/Anomalies/inv3.html
DOI: 10.4267/2042/32059
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence.
© 1997 Atlas of Genetics and Cytogenetics in Oncology and Haematology
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 the Waisman
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.
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2)
72
inv(3)(q21q26). t(3;3)(q21;q26). ins(3;3)(q26;q21q26)
Huret JL
RPN1 (ribophorin 1)
Clinics and pathology
Location: 3q21
Disease
Results of the chromosomal
anomaly
Acute non lymphocytic leukemia (ANLL), often
preceeded by myelodysplastic syndrome (MDS); MDS;
may occur as additional anomaly in chronic
myelogenous 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.
Hybrid gene
Description
RPN1 enhancer juxtaposed to EVI1.
References
Jenkins RB, Tefferi A, Solberg LA Jr, Dewald GW. Acute
leukemia with abnormal thrombopoiesis and inversions of
chromosome 3. Cancer Genet Cytogenet 1989 Jun;39(2):16779.
Jotterand Bellomo M, Parlier V, Mühlematter D, Grob JP, Beris
P. 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. Cancer
Genet Cytogenet 1992 Apr;59(2):138-60. (Review).
Grigg AP, Gascoyne RD, Phillips GL, Horsman DE. Clinical,
haematological and cytogenetic features in 24 patients with
structural rearrangements of the Q arm of chromosome 3. Br J
Haematol 1993 Jan;83(1):158-65.
Fonatsch C, Gudat H, Lengfelder E, Wandt H, SillingEngelhardt G, Ludwig WD, Thiel E, Freund M, Bodenstein H,
Schwieder G, et al. Correlation of cytogenetic findings with
clinical features in 18 patients with inv(3)(q21q26) or
t(3;3)(q21;q26). Leukemia 1994 Aug;8(8):1318-26.
Secker-Walker LM, Mehta A, Bain B. Abnormalities of 3q21
and 3q26 in myeloid malignancy: a United Kingdom Cancer
Cytogenetic Group study. Br J Haematol 1995 Oct;91(2):490501.
Cytogenetics
Shi G, Weh HJ, Dührsen U, Zeller W, Hossfeld DK.
Chromosomal abnormality inv(3)(q21q26) associated with
multilineage hematopoietic progenitor cells in hematopoietic
malignancies. Cancer Genet Cytogenet 1997 Jul 1;96(1):5863.
Additional anomalies
- Alone or with -7 in 30% of cases each;
- nv(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%).
This article 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.1997;1(2):72-73.
Genes involved and Proteins
EVI1
Location: 3q26
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2)
73