Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
| t(6;8)(q27;p12) in a new case "8p11 myeloproliferative syndrome" |
| Clinics |
| 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 |
| Blood |
| WBC : 375.0 x 109/l; Hb : 9.0 g/dl; platelets : 244.000 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. |
| Survival |
| 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) |
| Karyotype |
| 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. |
| Comments |
| 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 Card | t(6;8)(q27;p12) |
| Bibliography |
| 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 |
| Contributor(s) |
| Written | 11-2011 | Tatiana 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 |
| Citation |
| This paper should be referenced as such : |
| Gindina T, Baykov V, Kravtcova V, Barkhatov I, Slesarchuk O, Vlasova M, Nikolaeva E, Ovechkina V . . Atlas Genet Cytogenet Oncol Haematol. November 2011 . URL : http://AtlasGeneticsOncology.org/Genes/t68q27p12GindinaID100060.html |
This paper is referenced by INIST as such : |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:39:55 CET 2013 |
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