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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
Reciprocal translocation t(2;12)(q31;p13) in a case of CMML
 
Written2006-11Despina Iakovaki, Markos Fisfis, Katy Stefanoudaki, Georgia Bardi
BioAnalytica-GenoType SA, Molecular Cytogenetic Research and Applications, Athens, Greece / gbardi@genotypos.gr ; Department of Hematology, "Amalia Fleming" General Hospital, Athens, Greece / stefanoudaki@otenet.gr
Clinics
Age and sex : 78 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
Blood
WBC : 3.14 x 109/L (.); Hb : 5.7 g/dL ; platelets : 86 x 109/L;
Bone marrow : increased cellularity, hyperplastic granulocytic series with dysgranulopoiesis, polymorphous and dysplastic megakaryocytes, numerous micromegakaryocytes, depressed erythroid series. Blasts: 5%, Monocytes:17%. Note: WBC Differential: Neu: 23, Lymph: 31, Mono: 41, Myelo-Metamyelocytes: 5%, granulocytic dysplasia. Absolute monocyte count: 1.3 x 109/l
Cyto pathology classification
Pathology : Increased cellularity, F:C ratio 5:95 mainly due to hyperplasia of myelocytic series with dysgranulopoiesis, CD34(+) cells approx. 13%, significant depression of erythroid series, abundant micromegacaryocytes.
Precise diagnosis : Chronic myelomonocytic leukemia (CMML)
Survival
Date of diagnosis: 02-2003
Treatment : Supportive; blood transfusions, steroids, platelets transfusions
Complete remission : None
Status : Dead 11-2005
Survival : 33 month(s)
Karyotype
Sample : Bone marrow ; culture time : Direct preparations (after 1 h in culture) and 24 h ; banding : G-banding with Wright stain
Results : 46,XY,t(2;12)(q31;p13)[22]/47,idem,+21[3].
Partial karyogram of the cytogenetically abnormal clone with the translocation t(2;12)(q31;p13). The arrows indicate the breakpoint in the abnormal chromosomes 2 and 12.
Comments
Among the haematological malignancies with clonal chromosome aberrations reported in the world literature, there is only one case with the same translocation t(2;12)(q31;p13), a non Hodgkin lymphoma published by Sato et al., 1997. The karyotypic findings of the present case indicates a cytogenetic clonal evolution, since a second abnormal clone with the translocation t(2;12)(q31;p13) and trisomy of chromosome 21 was identified together with the clone displaying the t(2;12)(q31;p13) as the sole change.
Internal links
Atlas Cardt(2;12)(q31;p13)
Bibliography
Heterogeneity in the breakpoints in balanced rearrangements involving band 12p13 in hematologic malignancies identified by fluorescence in situ hybridization: TEL (ETV6 ) is involved in only one half.
Sato Y, Bohlander SK, Kobayashi H, Reshmi S, Suto Y, Davis EM, Espinosa R, Hoopes R, Montgomery KT, Kucherlapati RS, Le Beau MM, Rowley JD
Blood. 1997 ; 90 (12) : 4886-4893.
PMID 9389705
 

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