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(Paper co-edited with the European LeukemiaNet)
t(6;8)(q27;p12) in a new case "8p11 myeloproliferative syndrome"
Written2011-11Tatiana Gindina, Vadim Baykov, Valentina Kravtcova, Ildar Barkhatov, Olga Slesarchuk, Maria Vlasova, Elena Nikolaeva, Varvara Ovechkina
I.P.Pavlov State Medical University, R.M. Gorbacheva Memorial Institute of Children Hematology and Transplantation, Cytogenetic Laboratory, Saint Petersburg, Russia
Age and sex : 19 year(s) old female patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : hepatomegaly ; splenomegaly ; enlarged lymph nodes (generalized lymphadenopathy); no central nervous system involvement
WBC : 375.0 x 109/L ; Hb : 9.0 g/dL ; platelets : 244 x 109/L; blasts : 0 % (no blasts).
Bone marrow : 8 Hypercellular bone marrow, myeloid hyperplasia with eosinophilia and at least 8% blasts. Erythropoiesis was decreased; megakaryocytes were distributed irregularly with different dysplastic forms.
Cyto pathology classification
Cytology : T-cell lymphoma / CML
Immunophenotype : Not performed.
Rearranged Ig Tcr : Not performed.
Pathology : Lymph node biopsy showed T-cell lymphoma, CD2, CD3, CD5, Ki-67 positive; CD34 negative and Ki-67 positive in 50% of neoplastic cells. T-cell blasts associated with perivascular eosinophil component.
Electron microscopy : Not performed.
Precise diagnosis : Myeloid and lymphoid neoplasms with FGFR1 abnormalities.
Date of diagnosis: 07-2009
Treatment : Therapy by Hydrea (1000 mg/day) helped to decrease leukocytosis and less lymph node enlargement. The matched unrelated donor allogeneic human stem cell transplantation (MUD allo-HSCT) was performed in March 2011 after 3 courses of chemotherapy according to 7+3 protocol and myeloablative conditioning regimen with busulfan and cyclophosphamide.
Complete remission : None
Treatment related death : + There were many complications in post-transplant period, including serum disease, acute and chronic graft versus host diseases, steroid diabetes, CMV-infection.
Relapse : -
Status : Dead 09-2011
Survival : 26 month(s)
Sample : Bone marrow aspirate ; culture time : 24 h, without stimulating agents ; banding : GTG.
Results : Analysis of 20 metaphase cells revealed an abnormal female karyotype in all metaphases. 46,XX,t(6;8)(q27;p12)[20] .
Other molecular cytogenetics technics : Fluorescence in situ hybridisation using the FGFR1 Breakapart probe was performed (Cytocell Aquarius, UK).
Other molecular cytogenetics results : One split and one fused signals were observed resulting in 1 yellow, 1 red, 1 green, 2 blue conformation (in all bone marrow nuclei).
Other molecular studies
technics : RT-PCR on BCR-ABL.
results : Negative.
G-banded partial karyotype showing the t(6;8)(q27;p12).
FISH with the FGFR1 Breakapart probe.
The case described here is of a 19-year-old female who was diagnosed with EMS. It is relatively rare condition characterized in its typical form by the occurence of a bcr/abl-negative myeloproliferative disorder and a lymphoma, usually a precursor T lymphoblastic lymphoma. Cytogenetics revealed a translocation (6;8)(q27;p12) involving the fibroblast growth factor receptor 1 tyrosine kinase gene on chromosome 8p11-12. To our knowledge, only eight cases with the t(6;8)(q27;p12) have been reported previously. Four of these individuals had features at presentation and a clinical course typical of EMS: malignant T-cell lymphoma and CML similar to our case, AML/myeloproliferative disease, CML-like disease with eosinophilia that progressed rapidly to AML and primary AML evolving to EMS following chemotherapy. Of the three remaining individuals, two presented with PV and progressed to AML after a period of 5 years. One case developed PV 2 years after treatment of an MPD and then subsequently progressed to AML. And one patient had features at presentation of FGFR1OP-FGFR1 disease as B-ALL.
The myeloid and lymphoid neoplasms with FGFR1 abnormalities are usually ineradicable by conventional chemotherapy but occasional long-term remission patients have been reported following allogeneic bone marrow transplantation.
Call for collaboration
Tatiana Gindina, MD, PhD
Cytogenetic Laboratory, R.M. Gorbacheva Memorial Institute of Children Hematology and Transplantation, I.P. Pavlov State Medical University, Saint-Petersburg, Russia, Leo Tolstoi Str., 6/8, 197022
Telephone: + 7 (812) 233 12 43
Fax: + 7 (812) 233 96 01
Internal links
Atlas Cardt(6;8)(q27;p12)
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
Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases.
Vizmanos JL, Hernandez R, Vidal MJ, Larrayoz MJ, Odero MD, Marin J, Ardanaz MT, Calasanz MJ, Cross NC.
Hematol J. 2004;5(6):534-7.
PMID 15570299
The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report.
Goradia A, Bayerl M, Cornfield D.
Int J Clin Exp Pathol. 2008 Jan 1;1(5):448-56.
PMID 18787627
8p11 myeloproliferative syndrome: a review.
Jackson CC, Medeiros LJ, Miranda RN.
Hum Pathol. 2010 Apr;41(4):461-76. (REVIEW)
PMID 20226962
Chromosome 8p11.2 translocations: prevalence, FISH analysis for FGFR1 and MYST3, and clinicopathologic correlates in a consecutive cohort of 13 cases from a single institution.
Patnaik MM, Gangat N, Knudson RA, Keefe JG, Hanson CA, Pardanani A, Ketterling RP, Tefferi A.
Am J Hematol. 2010 Apr;85(4):238-42.
PMID 20143402


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