t(6;8)(q27;p12) in a new case "8p11 myeloproliferative syndrome"
2011-11-01 Tatiana Gindina, Vadim Baykov, Valentina Kravtcova, Ildar Barkhatov, Olga Slesarchuk, Maria Vlasova, Elena Nikolaeva, Varvara Ovechkina AffiliationI.P.Pavlov State Medical University, R.M. Gorbacheva Memorial Institute of Children Hematology and Transplantation, Cytogenetic Laboratory, Saint Petersburg, Russia
Previous history
Preleukaemia
-
Malignant disease
-
Inborn condition
-
Clinics case report
Age
19 yrs
Sex
F
Liver
+
Spleen
+
Lymph nodes
+ generalized lymphadenopathy
Cns involv
-
Blood data
Wbc
375.0
Hb
9.0
Platelets
244
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 path
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 data
Date 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
- Stable complete hematological and cytogenetic remissions were achieved with hepatomegaly persisting.
Treatment relat 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
D
Date last follow
09-2011
Survival
26
Karyotype
Sample
Bone marrow aspirate
Culture time
24 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] .
Mol cytogenet technics
Fluorescence in situ hybridisation using the FGFR1 Breakapart probe was performed (Cytocell Aquarius, UK).
Mol cytogenet 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 molec studies
Technics
RT-PCR on BCR-ABL.
Results
Negative.
Images
G-banded partial karyotype showing the t(6;8)(q27;p12).
FISH with the FGFR1 Breakapart probe.
Comments section
Comments
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 collab
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Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9484786 | 1998 | 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 et al |
| 15570299 | 2004 | Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases. | Vizmanos JL et al |
| 18787627 | 2008 | The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report. | Goradia A et al |
| 20226962 | 2010 | 8p11 myeloproliferative syndrome: a review. | Jackson CC et al |
| 20143402 | 2010 | 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 et al |
Citation
Tatiana Gindina, Vadim Baykov, Valentina Kravtcova, Ildar Barkhatov, Olga Slesarchuk, Maria Vlasova, Elena Nikolaeva, Varvara Ovechkina
t(6;8)(q27;p12) in a new case "8p11 myeloproliferative syndrome"
Atlas Genet Cytogenet Oncol Haematol. 2011-11-01
Online version: http://atlasgeneticsoncology.org/case-report/208858/t(6
