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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
A new case of translocation t(14;14)(q11;q32) in B lineage ALL
 
Written2011-02Elvira D Rodrigues Pereira Velloso, Priscila Pereira dos Santos Teixeira, Karina Prandi Melillo, Luciana J Rodrigues da Silva, Cristina Alonso Ratis, Daniela Borri, Cristóvão LP Mangueira
Clinical Laboratory, Hospital Israelita Albert Einstein, Sao Paulo, Brazil (EDRPV, PPdST, LJRdS, CAR, DB, CLPM); CASE Intermedica, Sao Paulo, Brazil (KPM)
Clinics
Age and sex : 43 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : hepatomegaly ; splenomegaly ; no enlarged lymph nodes ; central nervous system involvement ;
Blood
WBC : 227 x 109/L ; Hb : 5 g/dL (9); platelets : 51 x 109/L; blasts : 12 % .
Bone marrow : aspirate: 90% lymphoblast
Cyto pathology classification
Cytology : LLA-L2
Immunophenotype : HLA-DR+, TdT+, CD79a+, CD19+, cyCD22+, CD20+, CD10+
Rearranged Ig Tcr : rearranged IGH (FISH)
Pathology : not done
Electron microscopy : not done
Precise diagnosis : common B-ALL
Survival
Date of diagnosis: 02-2009
Treatment : Cancer and Leukemia Group B (CALGB) protocol
Complete remission : None
Treatment related death : + Neutropenia and lung infection
Relapse : -
Status : Dead 03-2009
Survival : 20 day(s)
Karyotype
Sample : Bone marrow ; culture time : 24 h, and 48 hours without stimulating agents ; banding : G
Results : 46,XY,t(14;14)(q11;q32.1)[20]
Karyotype at relapse : not done
Other molecular cytogenetics technics : FISH using IGH Break Apart Rearrangement Probe, Vysis
Other molecular cytogenetics results : nuc ish(IGHx2)(5'IGH sep 3'IGHx1)[154/200]/ (5'IGHx2,3'IGHx1)(5'IGH con 3'IGHx1)[33/200]
G- banded partial karyotypes showing the t(14;14).
Interphase FISH shows IGH gene rearrangements (IGH Dual Color, Break Apart Rearrangement probe).
Comments
Translocation t(14;14)(q11;q32) in B lineage acute lymphoblastic leukemia was described in few cases, some of them associated with other recurrent rearrangements such as t(4;11) and t(8;14). Lui et al, in 2004 showed IGH rearrangement in two cases, although the partner was unknown. Akasaka et al in 2007, described CEBPE involvement in a patient with B-ALL and t(14;14)(q11;q32). In 2008, Han et al showed through FISH analysis the presence of trisomy 4 as a simultaneous involvement of IGH and CEPBE genes.
The t(14;14)(q11;q32) CEBPE/IGH may be associated with good prognosis in B-ALL. In 4 cases with clinical follow-up, complete remission was achieved and those were alive at the time of report. In the case described herein, the t(14;14) was the sole anomaly, IGH rearrangement was detected but CEBPE involvement was not studied. This patient has well known bad prognostic features as high WBC count and CNS involvement and died few days after diagnosis.
Internal links
Atlas Cardt(14;14)(q11;q32) CEBPE/IGH
Bibliography
IGH gene involvement in two cases of acute lymphoblastic leukemia with t(14;14)(q11;q32) identified by sequential R-banding and fluorescence in situ hybridization.
Liu S, Bo L, Liu X, Li C, Qin S, Wang J.
Cancer Genet Cytogenet. 2004 Jul 15;152(2):141-5.
PMID 15262434
 
Five members of the CEBP transcription factor family are targeted by recurrent IGH translocations in B-cell precursor acute lymphoblastic leukemia (BCP-ALL).
Akasaka T, Balasas T, Russell LJ, Sugimoto KJ, Majid A, Walewska R, Karran EL, Brown DG, Cain K, Harder L, Gesk S, Martin-Subero JI, Atherton MG, Brüggemann M, Calasanz MJ, Davies T, Haas OA, Hagemeijer A, Kempski H, Lessard M, Lillington DM, Moore S, Nguyen-Khac F, Radford-Weiss I, Schoch C, Struski S, Talley P, Welham MJ, Worley H, Strefford JC, Harrison CJ, Siebert R, Dyer MJ.
Blood. 2007 Apr 15;109(8):3451-61. Epub 2006 Dec 14.
PMID 17170124
 
Translocation (14;14)(q11;q32) with simultaneous involvement of the IGH and CEBPE genes in B-lineage acute lymphoblastic leukemia.
Han Y, Xue Y, Zhang J, Wu Y, Pan J, Wang Y, Shen J, Dai H, Bai S.
Cancer Genet Cytogenet. 2008 Dec;187(2):125-9.
PMID 19027493
 

Citation

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