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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Case Report Section Paper co-edited with the European LeukemiaNet Translocation t(8;9)(p12;q33) detected in cALL: A case report Melanie Zenger, Claudia Haferlach MLL Munchner Leukamielabor GmbH, Max-Lebsche-Platz 31, 81377 Munchen, Germany (MZ, CH) Published in Atlas Database: March 2011 Online updated version : http://AtlasGeneticsOncology.org/Reports/t89p12q33ZengerID100054.html DOI: 10.4267/2042/46041 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2011 Atlas of Genetics and Cytogenetics in Oncology and Haematology Clinics Survival Age and sex 85 years old female patient. Previous history No preleukemia. No previous malignancy. No inborn condition of note. Organomegaly No hepatomegaly, no splenomegaly, no enlarged lymph nodes, no central nervous system involvement. Date of diagnosis: 02-2010 Treatment: Vincristine and Dexamethasone Complete remission : no Treatment related death : no Relapse : no Status: Death. Survival: 8 months Karyotype Blood 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 RP11359P11. Other molecular cytogenetics results FGFR1-CEP110-fusion detected using RT-PCR. 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: Diagnosis: cALL Atlas Genet Cytogenet Oncol Haematol. 2010; 14(10) 902 Translocation t(8;9)(p12;q33) detected in cALL: A case report Zenger M, Haferlach C Birnbaum D, Pébusque MJ. 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. Oncogene. 1998 Feb 19;16(7):945-9 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 knowledgethe first description of a patient with a t(8;9)(p12;q33), who presented solely with a lymphoid malignancy. Guasch G, Mack GJ, Popovici C, Dastugue N, Birnbaum D, Rattner JB, Pébusque MJ. FGFR1 is fused to the centrosomeassociated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). Blood. 2000 Mar 1;95(5):1788-96 Sohal J, Chase A, Mould S, Corcoran M, Oscier D, Iqbal S, Parker S, Welborn J, Harris RI, Martinelli G, Montefusco V, Sinclair P, Wilkins BS, van den Berg H, Vanstraelen D, Goldman JM, Cross NC. Identification of four new translocations involving FGFR1 in myeloid disorders. Genes Chromosomes Cancer. 2001 Oct;32(2):155-63 Yamamoto K, Kawano H, Nishikawa S, Yakushijin K, Okamura A, Matsui T. A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene. Eur J Haematol. 2006 Oct;77(4):349-54 Mozziconacci MJ, Carbuccia N, Prebet T, Charbonnier A, Murati A, Vey N, Chaffanet M, Birnbaum D. 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. Leuk Res. 2008 Aug;32(8):1304-8 Park TS, Song J, Kim JS, Yang WI, Song S, Kim SJ, Suh B, Choi JR. 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. Cancer Genet Cytogenet. 2008 Mar;181(2):93-9 References Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H et al.. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th. International Agency for Research on Cancer (IARC), 2008. Lyon. Bene MC, Castoldi G, Knapp W, Ludwig WD, Matutes E, Orfao A, van't Veer MB. Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia. 1995 Oct;9(10):1783-6 This article should be referenced as such: Zenger M, Haferlach C. Translocation t(8;9)(p12;q33) detected in cALL: A case report. Atlas Genet Cytogenet Oncol Haematol. 2011; 15(10):902-903. Chaffanet M, Popovici C, Leroux D, Jacrot M, Adélaïde J, Dastugue N, Grégoire MJ, Hagemeijer A, Lafage-Pochitaloff M, Atlas Genet Cytogenet Oncol Haematol. 2010; 14(10) 903