CASE REPORTS in HAEMATOLOGY (Paper co-edited with the European LeukemiaNet)

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

Despina Iakovaki, Markos Fisfis, Katy Stefanoudaki, Georgia Bardi

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;

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 Card

t(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 III R, Hoopes R, Montgomery KT, Kucherlapati RS, Le Beau MM, Rowley JD.

Blood 1997; 90: 4886-4893.

PMID 9389705

Contributor(s)

Written

11-2006

Despina Iakovaki, Markos Fisfis, Katy Stefanoudaki, Georgia Bardi

Citation

This paper should be referenced as such :

Iakovaki D, Fisfis M, Stefanoudaki K, Bardi G . Reciprocal translocation t(2;12)(q31;p13) in a case of CMML. Atlas Genet Cytogenet Oncol Haematol. November 2006 . URL : http://AtlasGeneticsOncology.org/Reports/0212IakovakiID100017.html

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indexed on : Thu Apr 17 14:15:19 2008

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