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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
Translocation t(8;9)(p12;q33) detected in cALL: A case report
 
Written2011-03Melanie Zenger, Claudia Haferlach
MLL Munchner Leukamielabor GmbH, Max-Lebsche-Platz 31, 81377 Munchen, Germany
Clinics
Age and sex : 85 year(s) old female 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
Blood
blasts : 49 % .
Cyto pathology classification
Cytology : cALL
Immunophenotype : Positive for CD10, CD19, HLA-DR, CD34 and cytoplasmatic TdT; CD20 is expressed on 1% of the cells; additionally, there is abnormal coexpression of CD33 and CD13.
Rearranged Ig Tcr : no
Pathology : -
Precise diagnosis : cALL
Survival
Date of diagnosis: 02-2010
Treatment : Vincristine and Dexamethasone
Complete remission : None
Treatment related death : -
Relapse : -
Status : Dead
Survival : 8 month(s)
Karyotype
Sample : Bone marrow ; culture time : 24/48 h ; banding : G-banding
Results : 46,XX,t(8;9)(p12;q33)[14/20]
Other molecular cytogenetics technics : FISH with WCP probes for chromosomes 8 and 9; FISH with BAC clones RP11-513D5 and RP11-359P11.
Other molecular cytogenetics results : FGFR1-CEP110-fusion detected using RT-PCR.
Comments
Here, we report a rare case of a t(8;9)(p12;q33) in a patient with c-ALL. The peripheral blood was infiltrated with CD10+, CD19+, CD34+, HLA-DR+ as well as cytoplasmatic TdT+, CD79a+ and CD22+ lymphoblasts. Additionally, cells showed abnormal coexpression of CD33 and CD13. Chromosome banding analysis revealed a 46,XY,t(8;9)(p12;q33) karyotype, and a FGFR1-CEP110 fusion transcript was detected by reverse transcription-polymerase chain reaction (RT-PCR). Patients with a t(8;9)(p12;q33) that have been published so far showed either a myeloid or biphenotypic malignancy, often presenting a myeloproliferative neoplasia or a myeloproliferative neoplasia in transformation (Chaffanet et al., 1998; Guasch et al., 2000; Sohal et al., 2001; Yamamoto et al., 2006; Mozziconacci et al., 2008; Park et al., 2008). Contrary to previous reports we did not observe myeloid involvement in our patient. Both the EGIL criteria for biphenotypic acute leukemia as well as the WHO classification for mixed phenotype acute leukaemia are not met here (Bene et al., 1995; Swerdlow et al., 2008). Thus, this is -to our knowledge- the first description of a patient with a t(8;9)(p12;q33), who presented solely with a lymphoid malignancy.
Internal links
Atlas Cardt(8;9)(p12;q33)
Bibliography
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