A new case of dic(1;15) in essential thrombocythaemia with JAK2 V617F mutation

Elvira D Rodrigues Pereira Velloso, Cristina Alonso Ratis, Renata Kiyomi Kishimoto, Daniel Aquilino Oliveira, Nádia Cristina de Sousa Misael, João Carlos de Campos Guerra, Cristóvão Luis P Mangueira  

Laboratorio de Tecnicas Especiais- Citogenetica do Hospital Israelita Albert Einstein, Sao Paulo, Brazil (EDRPV, CAR, RKK, DAO, NCdSM, CLPM); Centro de Hematologia, Sao Paulo, Brazil (JCdCG)

Previous history

Preleukaemia
+ Essential thrombocythaemia diagnosed in 2000 with normal karyotype and treated from 2003 to 2010 with low doses of Myleran
Malignant disease
-
Inborn condition
-

Clinics case report

Age
78 yrs
Sex
F
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Wbc
5,4
Hb
11,6
Platelets
504
Blasts
0
Bone marrow
0 Aspirate and trephine biopsy showed global hypercellulary with marked increased number of megakaryocytes of large size and with hyperlobulated nuclei, no increase in reticulin fibrosis nor in blast cells.

Cyto path

Cytology
Essential thrombocythaemia
Precise diagnosis
Essential thrombocythaemia with JAK2 V617F mutation

Survival data

Date diagnosis
07-2011
Treatment
no
Complete remission
-
Treatment relat death
-
Relapse
-
Status
A
Date last follow
10-2011
Survival
3

Karyotype

Sample
Bone marrow
Culture time
24 and 48 hours without stimulating agents
Banding
GTG
Results
46,XX,+15,dic(1;15)(p11;p11)[10]/46,XX[10]
Karyotype relapse
not done

Other molec studies

Technics
PCR
Results
JAK2 V617F mutation

Images

Atlas Image
Figure 1. G-banding partial karyotypes dic(1;15).

Comments section

Comments
This is a new case of myeloproliferative neoplasm with dic(1;15). Although the histological bone marrow findings were compatible with essential thrombocythaemia and no other morphological aspects were suggestive of myelodysplastic syndrome, we could not rule out the potential impact of the previous treatment with Myleran in the genesis of the chromosomal abnormality. To our knowledge, there are 13 cases of dic(1;15) described in myeloid disorders: 7 in myeloprofiferative neoplasms (polycythaemia vera, essential thrombocythaemia and atypical myeloproliferative disorder), 4 in myelodysplastic syndromes and 2 in acute myeloid leukemia. Four of these cases were described by Theisen et al. in this cytogenetic atlas. In 3 of them, the survival was superior to 10 years and in only one case the death was related to disease progression.

Bibliography

Pubmed IDLast YearTitleAuthors
39549641986An identical translocation between chromosome 1 and 15 in two patients with myelodysplastic syndromes.Mecucci C et al
23404871990Cytogenetic analysis of 54 cases of myelodysplastic syndrome.Jotterand-Bellomo M et al
14584441992Cytogenetic studies in 112 cases of untreated myelodysplastic syndromes.Solé F et al
86309881996Dicentric (1;15) in myeloid disorders.Michaux L et al
120913562002Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7): a study of the Groupe Français de Cytogénétique Hématologique (GFCH).Dastugue N et al
196024632009Gene amplification in myeloid leukemias elucidated by fluorescence in situ hybridization.Rayeroux KC et al
213255962011Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.Quentin S et al

Citation

Elvira D Rodrigues Pereira Velloso, Cristina Alonso Ratis, Renata Kiyomi Kishimoto, Daniel Aquilino Oliveira, Nádia Cristina de Sousa Misael, João Carlos de Campos Guerra, Cristóvão Luis P Mangueira

A new case of dic(1;15) in essential thrombocythaemia with JAK2 V617F mutation

Atlas Genet Cytogenet Oncol Haematol. 2012-02-01

Online version: http://atlasgeneticsoncology.org/case-report/208860/a-new-case-of-dic(1;15)-in-essential-thrombocythaemia-with-jak2-v617f-mutation