Chronic myeloid leukemia in patient with the Klinefelter syndrome.
OBJECTIVE
Genetic inborn along with acquired diseases arise due to the lesions in genome of multipotent hematopoietic stem cells. The aim was to study an influence of constitutional anomaly, Klinefelter syndrome, and additional structural rearrangements on the BCR-ABL tyrosine kinase inhibitor targeted therapy efficacy.


METHODS
We describe a 32-year-old male patient with chronic myeloid leukemia (CML) who was detected to have sex chromosomal abnormality during evaluation for Philadelphia chromosome.


RESULTS
At diagnosis of CML, two clones were detected by standard cytogenetic investigation of bone marrow cells: 1) clone with translocation t(9;22)(q34;q11), with two sex X chromosomes and absence sex chromosome Y; 2) clone with t(9;22) and unbalanced t(Y;20)(q11;q13). Analysis of blast transformed lymphocytes from peripheral blood showed karyotype 47,XXY. Monitoring of targeted therapy with second generation inhibitor of BCR-ABL tyrosine kinase indicated a cytogenetic remission and absence of BCR-ABL1 fusion signals after 11 months.


CONCLUSIONS
Absence of translocation t(9;22)(q34;q11) in blast transformed T-lymphocytes at diagnosis of CML evidences that this translocation may appear not only at the level of multipotent haemopoietic cell progenitors but also may have oligo lineage myeloid origin. Presence of additional structural chromosomal abnormality in the clone with t(9;22)(q34;q11) does not affect the efficacy of therapy with the use of second generation BCR-ABL tyrosine kinase inhibitor.
State Institution «Institute of Haematology and Transfusiology of NAMS of Ukraine», Kyiv 04060, Ukraine.
S V
SV
Andreieva
Government Institution «The Scientific-Practical Children's Cardiac Centre the Ministry of Health Care of Ukraine» (UCCC), Kyiv 04050, Ukraine.
K V
KV
Korets
State Institution «Institute of Haematology and Transfusiology of NAMS of Ukraine», Kyiv 04060, Ukraine.
O A
OA
Kyselova
Government Institution «The Scientific-Practical Children's Cardiac Centre the Ministry of Health Care of Ukraine» (UCCC), Kyiv 04050, Ukraine.
O E
OE
Ruzhinska
City Hospital No 9, Kyiv 04060, Ukraine.
I M
IM
Serbin
D000328:Adult; D001854:Bone Marrow Cells / Q000187:drug effects / Q000378:metabolism / Q000473:pathology; D016044:Fusion Proteins, bcr-abl / Q000037:antagonists & inhibitors / Q000235:genetics; D006801:Humans; D059785:Karyotype; D007713:Klinefelter Syndrome / Q000150:complications* / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000150:complications* / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008214:Lymphocytes / Q000187:drug effects / Q000378:metabolism / Q000473:pathology; D008297:Male; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use; D014178:Translocation, Genetic
D047428:Protein Kinase Inhibitors; D016044:Fusion Proteins, bcr-abl