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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
An adult case of biphenotypic acute leukemia with t(6;14)(q25;q32)
 
Written2015-09Toyotaka Kawamata, Miho Ogawa, Tomomi Takei, Reina Takeda, Kiyosumi Ochi, Kazuaki Yokoyama, Tomofusa Fukuyama, Nobuhiro Ohno, Kaoru Uchimaru, Arinobu Tojo
Department of Hematology/Oncology, Research Hospital (KT, OM, TT, TR, OK, YK, FT, ON, UK, TA); Division of Cell Therapy, Advanced Clinical Research Center (TF); Division of Molecular Therapy, Advanced Clinical Research Center, The Institute of Medical Science, the University of Tokyo (TA), 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan. Toyotaka Kawamata: toyotaka@ims.u-tokyo.ac.jp, Miho Ogawa: miho.ogawa327@gmail.com; Tomomi Takei: t-takei@ims.u-tokyo.ac.jp; Reina Takeda: reina.takeda@gmail.com; Kiyosumi Ochi: equuleus2015@gmail.com; Kazuaki Yokoyama: k-yoko@ims.u-tokyo.ac.jp; Tomofusa Fukuyama: tfukuyam@ims.u-tokyo.ac.jp; Nobuhiro Ohno: nobuohno@ims.u-tokyo.ac.jp; Kaoru Uchimaru: uchimaru@ims.u-tokyo.ac.jp; Arinobu Tojo: a-tojo@ims.u-tokyo.ac.jp
Clinics
Age and sex : 66 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; splenomegaly ; enlarged lymph nodes (Slightly enlarged lymph nodes (submental, cervical, axial, mediastinal, inguinal) were detected by computed tomography.); no central nervous system involvement
Blood
WBC : 130.4 x 109/L ; Hb : 13.9 g/dL ; platelets : 40 x 109/L; blasts : 93 % .
Bone marrow : Hypercellular marrow (NCC 497109/l) with 93.8% blast; monotonous and high nuclear-cytoplasm (N/C) ratio blast cells which had a cleaved nuclear were expanded.
Cyto pathology classification
Phenotype : Mixed phenotype acute leukaemia, T/myeloid, NOS
Immunophenotype : Positve for CD2,cyCD3,CD7,CD13,CD15,CD34,HLA-DR, and dimly positive for CD33,MPO,TdT. Negative for CD1a,CD5,CD11b,CD117,TCR-AB,TCR-GD
Rearranged Ig Tcr : Not performed.
Pathology : Acute leukemia compatible.
Electron microscopy : Not performed.
Precise diagnosis : Mixed phenotype acute leukemia, T/myeloid, NOS.
Survival
Date of diagnosis: 04-2015
Treatment : Japan adult leukemia study group T-ALL213-O induction therapy including vincristine (VCR), cyclophosphamide (CPA), daunorubicin (DNR), L-Asparaginase (L-ASP) and Predonisolone (PSL).
Complete remission was obtained
Treatment related death : -
Relapse : -
Status : Alive 09-2015
Survival : 5 month(s)
Karyotype
Sample : Bone marrow ; culture time : 24-48 h ; banding : G-banding
Results : 46,XY,t(6;14)(q25;q32) [20]
Karyotype at relapse : not applicable
Other molecular cytogenetics technics : fluorescence in situ hybridization(FISH) analysis using IgH 3' flanking region/V probes. 14q32 (IgH) break apart probe is a mixture of two probes, 3'IgH flanking probe and IgH variable region probe as shown in Figure 2a.
Other molecular cytogenetics results : Negative for immunoglobulin heavy chain (IgH) translocation (Figure 2b).
Other molecular studies
technics : Polymerase chain reaction (PCR) and Sanger sequencing
results : Positive for Flt3-internal tandem duplication(ITD). Negative for c-kit mutation.
Partial karyotype from bone marrow cells at the time of diagnosis showing the chromosomal translocation t(6;14)(q25;q32).
FISH analysis was performed by LSI Medience (Tokyo, Japan). (a) A scheme of 3'flanking probe and V probe which is modified from the technical information of LSI Medience corporation (Tokyo, Japan) web site.(b)Negative result for IgH gene rearrangement in this case.
Comments
We present an adult case of biphenotypic acute leukemia with t(6;14)(q25;q32). Chromosome translocations involving 14q32 are generally represented by B cell neoplasms, because the immunoglobulin heavy chain (IgH) gene is located in this region. However, BCL11B gene also located in 14q32 was shown to be involved in this translocation (Bezrookove et al.,2004). BCL11B, a member of the Kruppel family of zinc finger trascription factors, plays a critical role in T cell development and functions as a tumor suppressor (Wakabayashi et al.,2003). The partner gene of this translocation is unknown. The 28S ribosomal DNA (RN28S1) was reported as a candidate fusion partner (Kobayashi et al.,2014), but this gene is not located in 6q25. The phenotype of haematological malignancies with t(6;14)(q25;q32) is variable. These include acute lymphoblastic leukemia (ALL) (Heerema et al.,2002), mixed phenotype acute leukemia (Hayashi et al.,1990, Batanian et al.,1996, Georgy et al.,2008, Kobayashi et al.,2014), acute myeloid leukaemia (AML) (Raimondi et al.,1989, Bezrookove et al.,2004), chronic T cell neoplasm (Inwards et al.,1990) and chronic lymphocytic leukaemia (CLL) (Mayr et al.,2006). In 7 of 9 acute leukaemia cases with this translocation, both myeloid and T-cell lineage markers were detected. No immunophenotype was described in the remaining two cases. This translocation may affect expression of T-cell lineage marker, but the role of BCL11B is unclear.
Internal links
Atlas Cardt(6;14)(q25;q32)
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Citation

This paper should be referenced as such :
Kawamata T, Ogawa M, Takei T, Takeda R, Ochi K, Yokoyama K, Fukuyama T, Ohno N, Uchimaru K, Tojo A
An adult case of biphenotypic acute leukemia with t(6;14)(q25;q32)
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Reports/t0614q25q32KawamataID100080.html

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