Download Leukaemia Section t(3;8)(q26;q24) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Leukaemia Section
Mini Review
t(3;8)(q26;q24)
Pei Lin
Department of Hematopathology, Box 72, The University of Texas M. D. Anderson Cancer Center, 1515
Holcombe Boulevard, Houston, TX 77030, USA
Published in Atlas Database: November 2007
Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0308q26q24ID1463.html
DOI: 10.4267/2042/38610
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence.
© 2008 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Phenotype / cell stem origin
Identity
Mostly AML FAB-M2 or FAB-M-4 subtype.
Etiology
Unclear, may be secondary to chemotherapy.
Epidemiology
10 cases reported so far in the literature, less than 1%
of AML cases.
Cytology
Acute myeloid leukemia of mostly M2, M4 or M5 FAB
subtype or high grade MDS. Marked trilineage
dysplasia and megakaryocytic hyperplasia, may be
associated with peripheral blood thrombocytosis giving
the so-call 3q21q26 syndrome.
Treatment
Chemotherapy; may responds to thalidomide or arsenic
better than conventional chemotherapy.
Evolution
Myelodysplastic syndrome progress to acute myeloid
leukemia.
G-banding, t(3;8)(q26;q24)
Clinics and pathology
Prognosis
Poor.
Disease
Acute myeloid leukemia, de novo myelodysplastic
syndrome or therapy related myelodysplastic
syndrome.
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t(3;8)(q26;q24)
Lin P
Dysplastic myeloid elements.
Increased dysplastic megakaryocytes and increased blasts in the interstitium.
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t(3;8)(q26;q24)
Lin P
is from telomere to centromere. EVI1 gene may be
transcribed in different isoform which may have
different oncogenic effect.
Protein
1051 amino acids; 118335 Da. Nuclear location,
contains 10 C2H2-type zinc fingers.
Cytogenetics
Note: The breakpoint on 3q26 may lie in EVI1 or
MDS1 genes. The breakpoint on 8q24 is distal to the
PVT1 gene, a MYC activator gene in mice. The t(3;8)
is frequently associated with -7. It also can be an
isolated finding.
PVT1/C-MYC (pvt-1 (murine) oncogene
homolog, MYC activator)
Probes
EVI1/MDS1
RP11-115B16, RP11-114D6; Vysis C-MYC; Breakapart distal; Probe (green).
Location: 8q24
Note: The RNA function of pvt1 is unknown.
References
Genes involved and Proteins
Barjesteh van Waalwijk van Doorn-Khosrovani S, Erpelinck C,
van Putten WL, Valk PJ, van der Poel-van de Luytgaarde S,
Hack R, Slater R, Smit EM, Beverloo HB, Verhoef G, Verdonck
LF, Ossenkoppele GJ, Sonneveld P, de Greef GE, Löwenberg
B, Delwel R. High EVI1 expression predicts poor survival in
acute myeloid leukemia: a study of 319 de novo AML patients.
Blood 2003;101(3):837-845.
EVI1/MDS1
Location: 3q26.2
Note: Aberrant EVI1 expression usually occurs in
AML, MDS or CML-BC as a result of translocation
involving 3q26. The most common ones are
inv(3)(q21q26), t(3;3) and t(3;21)(q26;q22). The
partner genes of EVI1 are identified as Ribophorin I in
inv(3)(q21q26) and t(3;3), AML/ MDS1 /EAP in
t(3;21), and ETV6 in t(3;12), respectively. Others
involving t(3;12), t(2;3)(p13;q26), t(3;17)(q26;q22) and
t(3;13)(q26;q13-14) are uncommon. Aberrant EVI1
expression also occurs in 10% of acute myeloid
leukemia without involving 3q26 and is also correlated
with an adverse outcome.
DNA / RNA
16 exons spanning 64.2 Kb. Transcriptional orientation
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6)
Poppe B, Dastugue N, Vandesompele J, Cauwelier B, De
Smet B, Yigit N, De Paepe A, Cervera J, Recher C, De Mas V,
Hagemeijer A, Speleman F. EVI1 is consistently expressed as
principal transcript in common and rare recurrent 3q26
rearrangements.
Genes
Chromosomes
Cancer
2006;45(4):349-356.
Lennon PA, Abruzzo LV, Medeiros LJ, Cromwell C, Zhang X,
Yin CC, Kornblau SM, Konopieva M, Lin P. Aberrant EVI1
expression in acute myeloid leukemias associated with the
t(3;8)(q26;q24). Cancer Genet Cytogenet 2007;177(1):37-42.
This article should be referenced as such:
Lin P. t(3;8)(q26;q24). Atlas Genet
Haematol.2008;12(6):463-465.
465
Cytogenet
Oncol