t(6;8)(q27;p12) in a new case "8p11 myeloproliferative syndrome"

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

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

Atlas Image
G-banded partial karyotype showing the t(6;8)(q27;p12).
Atlas Image
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
Fax: + 7 (812) 233 96 01

Article Bibliography

Pubmed IDLast YearTitleAuthors
94847861998t(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
155702992004Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases.Vizmanos JL et al
187876272008The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report.Goradia A et al
2022696220108p11 myeloproliferative syndrome: a review.Jackson CC et al
201434022010Chromosome 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/gene-fusions-explorer/js/cancer-prone-explorer/