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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
A new case of dic(1;15) in essential thrombocythaemia with JAK2 V617F mutation
 
Written2012-02Elvira 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)
Clinics
Age and sex : 78 year(s) old female patient.
Previous History : preleukemia (Essential thrombocythaemia diagnosed in 2000 with normal karyotype and treated from 2003 to 2010 with low doses of Myleran)
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
Blood
WBC : 5 x 109/L (4); Hb : 11 g/dL (6); platelets : 504 x 109/L;
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 pathology classification
Cytology : Essential thrombocythaemia
Precise diagnosis : Essential thrombocythaemia with JAK2 V617F mutation
Survival
Date of diagnosis: 07-2011
Treatment : no
Complete remission : None
Treatment related death : -
Relapse : -
Status : Alive 10-2011
Survival : 3 month(s)
Karyotype
Sample : Bone marrow ; culture time : 24 h, and 48 hours without stimulating agents ; banding : GTG
Results : 46,XX,+15,dic(1;15)(p11;p11)[10]/46,XX[10]
Karyotype at relapse : not done
Other molecular studies
technics : PCR
results : JAK2 V617F mutation
Figure 1. G-banding partial karyotypes dic(1;15).
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.
Internal links
Atlas Carddic(1;15)(p11;p11)
Case ReportDic(1;15)(p11;p11) as a non-random abnormality in atypical MPD
Case ReportDic(1;15)(p11;p11) as a non-random abnormality in essential thrombocytemia
Case ReportDic(1;15)(p11;p11) as a non-random abnormality in Myelodysplasic syndrome
Case ReportDic(1;15)(p11;p11) as a non-random abnormality in Polycytemia Vera
Bibliography
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Dic(1;15)(p11;p11) as a non-random abnormality in essential thrombocytemia.
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Theisen O, Richebourg S, Lai JL, Roche-Lestienne C.
Atlas Genet Cytogenet Oncol Haematol. May 2008. URL: http://AtlasGeneticsOncology.org/Genes/dic115inMyelodRocheID100037.html.
 
Dic(1;15)(p11;p11) as a non-random abnormality in Polycytemia Vera.
Theisen O, Richebourg S, Lai JL, Roche-Lestienne C.
Atlas Genet Cytogenet Oncol Haematol. May 2008. URL: http://AtlasGeneticsOncology.org/Genes/dic115inPVRocheID100038.html.
 
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Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.
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Blood. 2011 Apr 14;117(15):e161-70. Epub 2011 Feb 16.
PMID 21325596
 

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