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(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
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
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
Date of diagnosis: 02-2010
Treatment : Vincristine and Dexamethasone
Complete remission : None
Treatment related death : -
Relapse : -
Status : Dead
Survival : 8 month(s)
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.
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)
Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL).
Bene MC, Castoldi G, Knapp W, Ludwig WD, Matutes E, Orfao A, van't Veer MB.
Leukemia. 1995 Oct;9(10):1783-6.
PMID 7564526
t(6;8), t(8;9) and t(8;13) translocations associated with stem cell myeloproliferative disorders have close or identical breakpoints in chromosome region 8p11-12.
Chaffanet M, Popovici C, Leroux D, Jacrot M, Adelaide J, Dastugue N, Gregoire MJ, Hagemeijer A, Lafage-Pochitaloff M, Birnbaum D, Pebusque MJ.
Oncogene. 1998 Feb 19;16(7):945-9.
PMID 9484786
FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33).
Guasch G, Mack GJ, Popovici C, Dastugue N, Birnbaum D, Rattner JB, Pebusque MJ.
Blood. 2000 Mar 1;95(5):1788-96.
PMID 10688839
Identification of four new translocations involving FGFR1 in myeloid disorders.
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Genes Chromosomes Cancer. 2001 Oct;32(2):155-63.
PMID 11550283
A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene.
Yamamoto K, Kawano H, Nishikawa S, Yakushijin K, Okamura A, Matsui T.
Eur J Haematol. 2006 Oct;77(4):349-54. Epub 2006 Jul 27.
PMID 16879608
Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110-FGFR1 fusion: report of a new case and review of the literature.
Mozziconacci MJ, Carbuccia N, Prebet T, Charbonnier A, Murati A, Vey N, Chaffanet M, Birnbaum D.
Leuk Res. 2008 Aug;32(8):1304-8. Epub 2007 Dec 21. (REVIEW)
PMID 18096225
8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality.
Park TS, Song J, Kim JS, Yang WI, Song S, Kim SJ, Suh B, Choi JR.
Cancer Genet Cytogenet. 2008 Mar;181(2):93-9.
PMID 18295660
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