Reciprocal translocation t(2;12)(q31;p13) in a case of CMML

Despina 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

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
78 yrs
Sex
M
Liver
-
Spleen
+
Lymph nodes
-
Cns involv
-

Blood data

Wbc
3.14 .
Hb
5.7
Platelets
86
Blasts
0
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 path

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 data

Date diagnosis
02-2003
Treatment
Supportive; blood transfusions, steroids, platelets transfusions
Complete remission
-
Status
D
Date last follow
11-2005
Survival
33

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].

Images

Atlas Image
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 section

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.

Bibliography

Pubmed IDLast YearTitleAuthors
93897051997Heterogeneity 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 et al

Citation

Despina Iakovaki, Markos Fisfis, Katy Stefanoudaki, Georgia Bardi

Reciprocal translocation t(2;12)(q31;p13) in a case of CMML

Atlas Genet Cytogenet Oncol Haematol. 2006-11-01

Online version: http://atlasgeneticsoncology.org/case-report/208815/reciprocal-translocation-t(2;12)(q31;p13)-in-a-case-of-cmml