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(Paper co-edited with the European LeukemiaNet)
t(3;7)(q26;q21) as a secondary abnormality in MDS RAEB-2
Written2009-08Lena Reindl, Claudia Haferlach
MLL, Munich Leukemia Laboratory, Max-Lebsche-Platz 31, Germany
Age and sex : 72 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 12.7 x 109/L ; Hb : 11.9 g/dL ; platelets : 70 x 109/L; blasts : 15 % .
Bone marrow : 15 The hypercellular bone marrow shows 15% blasts and multilineage dyplasias. Granulopoesis shows significant dysplasia and dyplasias were also found in the decreased erythropoiesis and thrombopoiesis. No Auer rods were detected.
Cyto pathology classification
Cytology : MDS RAEB-2
Immunophenotype : 12% myeloid blasts CD33+, CD117+; 31% hypogranulated granuloyctes; 11% monocytes CD56+.
Date of diagnosis: 07-2008
Status : Lost
Sample : bone marrow ; culture time : 24 - 72 h ; banding : GAG
Results : 46,XY,del(20)(q11) [2]/46,XY,idem, t(3;7)(q26;q21)[14].
Other molecular cytogenetics technics : FISH with commercial EVI/3q26 probe (Kreatech).
Other molecular cytogenetics results : 65% cells with EVI-rearrangement.
Partial GTG-karyotype showing t(3;7)(q26;q21).
EVI1 break-apart probe on metaphase chromosomes, one green signal left on derivatives chromosome 3 and one yellow signal is located on derivative chromosome 7.
Whole chromosome painting, WCP#3 yellow, WCP#7 red and WCP#20 green.
5 cases with t(3;7)(q26;q21) were described so far in literature. 4 cases showed chronic myeloid leukemia with t(3;7)(q26;q21) as a additional aberration to t(9;22)(q34;q11) (Storlazzi et al., 2004; Henzan et al., 2004; Bobadilla et al., 2007; Tien et al., 1989). One case suffered from acute myeloid leukemia (NOS) and had a trisomy 13 as additional aberration to t(3;7)(q26;q21) (Madrigal et al., 2006). The here described case - a 72-year-old male - had a MDS RAEB-2 (FAB) and the t(3;7)(q26;q21) was found as additional aberration to a 20q-deletion. So in this case for the first time a t(3;7)(q26;q21) was found in MDS and the translocation appears also as secondary aberration as seen in 4 cases with CML before.
Call for collaboration
Lena Reindl
MLL, Munich Leukemia Laboratory,
Max-Lebsche-Platz 31,
81377 Munich, Germany
Internal links
Chromosomal characteristics of Ph-positive chronic myelogenous leukemia in transformation. A study of 23 Chinese patients in Taiwan.
Tien HF, Chuang SM, Wang CH, Lee FY, Chien SH, Chen YC, Shen MC, Liu CH.
Cancer Genet Cytogenet. 1989 May;39(1):89-97.
PMID 2731152
Myeloid/natural killer cell blast crisis representing an additional translocation, t(3;7)(q26;q21) in Philadelphia-positive chronic myelogenous leukemia.
Henzan H, Yoshimoto G, Okeda A, Nagasaki Y, Hirano G, Takase K, Tanimoto T, Miyamoto T, Fukuda T, Nagafuji K, Harada M.
Ann Hematol. 2004 Dec;83(12):784-8. Epub 2004 Aug 18.
PMID 15322764
A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1.
Storlazzi CT, Anelli L, Albano F, Zagaria A, Ventura M, Rocchi M, Panagopoulos I, Pannunzio A, Ottaviani E, Liso V, Specchia G.
Ann Hematol. 2004 Feb;83(2):78-83. Epub 2003 Oct 10.
PMID 14551738
Fluorescence in situ hybridization studies using BAC clones of the EVI1 locus in hematological malignancies with 3q rearrangements.
Madrigal I, Carrio A, Gomez C, Rozman M, Esteve J, Nomdedeu B, Campo E, Costa D.
Cancer Genet Cytogenet. 2006 Oct 15;170(2):115-20.
PMID 17011981
An interphase fluorescence in situ hybridisation assay for the detection of 3q26.2/EVI1 rearrangements in myeloid malignancies.
Bobadilla D, Enriquez EL, Alvarez G, Gaytan P, Smith D, Slovak ML.
Br J Haematol. 2007 Mar;136(6):806-13.
PMID 17341266


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