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Раздел 2 Педиатрия
Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brasil
3Coordenagao de Pesquisa, Instituto Nacional de Cáncer, Rio de Janeiro, Brasil
4Unidade Técnica de Exposigao Ocupacional, Ambiental e Cáncer, Coordenagao de Prevengao e Vigilancia, Instituto Nacional de Cáncer, Rio de Janeiro, Brasil
5Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany
Brazilian gas station workers are chronically exposed to BTX (benzene, toluene, xylene) during their working time. Acquired chromosomal changes including complex chromosome rearrangements (CCR) were identified in two female attendants by fluorescence in situ hybridization, applying whole chromosome paints for chromosomes 1, 2 and 4. Lower natural killer (NK) cells count was also studied in the corresponding cases, highlighting a rare type of NK (NK-bright) in their peripheral blood cells. It is known that acquired chromosomal aberrations are positively correlated with cancer and reproductive risk. In concordance, lower NK cyto-toxicity increases the risk for cancer, as well. This is the first study providing hints on a possible causative relation of lower NK cytotoxicity and increase rates of chromosomal rearrangements including CCRs. Thus, the early identification of CCRs and blood abnormalities are necessary for effective genetic counseling of workers exposed to BTX, preventing diseases in workers themselves and also in their offspring.
PRENATAL SCREENING OF CYTOGENETIC ANOMALIES - A WESTERN INDIAN EXPERIENCE
Sheth F, Rahman M, Liehr T, Desai M, Patel B, Modi C, Trivedi S, Sheth J.
Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany
Children born with congenital anomalies present a very high rate of perinatal death and neonatal mortality. Cytogenetic analysis is a convincing investigation along with clinical suspicion and biochemical screening tests. The current study was designed to characterize the prevalence and types of chromosomal abnormalities in high risk prenatal samples using different cytogenetic techniques. This study was conducted on a total of 1,728 prenatal samples (1,324 amniotic fluids, 366 chorionic villi and 38 cord blood samples) from 1994 to 2014 at Institute of Human Genetics, Ahmedabad, India. Conventional karyotyping was conducted with GTG-banding. Molecular approaches were used (fluorescence in situ hybridization = FISH and/or array-comparative ge-nomic hybridization = aCGH) when indicated to detect karyotypic abnormalities. Abnormal karyotypes were detected in 125/1,728 (7.2%) cases. Trisomy 21 was the most common abnormality detected in 46 (2.7%) followed by trisomy 18 in 11 (0.6%) and trisomy 13 in 2 (0.1%) samples. Besides, structural abnormalities such as reciprocal and Robertsonian translocation were detected in 20 [1.2%] cases. Turner syndrome was diagnosed in seven (0.4%) cases; in six (0.34%) cases there was an inversion in the Y-chromosome. Hetero-morphic variants were diagnosed in 22 (1.3%) cases. Finally,
small supernumerary marker chromosomes (sSMC) were found in six (0.34%) cases. Conventional GTG-banding along with molecular cytogenetic techniques is useful in detecting genomic alterations and rearrangements. Comprehensive characterization of chromosomal rearrangements like sSMC has the potential to save potentially healthy fetuses from being terminated.
MASKED INV DUP(22)(Q11.23), TETRASOMY 8 AND TRISOMY 19 IN A BLAST CRISIS-CHRONIC MYELOID LEUKEMIA AFTER INTERRUPTED IMA-TINIB-TREATMENT
Wafa A.1, Almedani S.1, Moassass F.1, Liehr T.2, Othman M.A.K.2, Al-Achkar W.1
'Human Genetics Division, Department of Molecular Biology and Biotechnology, Atomic Energy Commission, Damascus, Syria
Jena University Hospital, Institute of Human Genetics, Jena, Germany
The Philadelphia (Ph) chromosome, or derivative chromosome 22 [der(22)], is product of the reciprocal translocation t(9;22). It is the hallmark of chronic myelogenous leukemia (CML). It results in juxtaposition of the 5' part of the BCR gene on chromosome 22 to the 3' part of the ABL1 gene on chromosome 9. During CML progression 60-80% of the cases acquire additional genetic changes. Blast crisis (BC) is characterized by the rapid expansion of a population of differentiation arrested blast cells (myeloid or lymphoid cells population), often presenting with secondary chromosomal abnormalities. Here we report a new CML-BC case with a derivative chromosome 22 inv dup(22)(qll.23) associated with tetrasomy 8 and trisomy 19. These chromosomal aberrations were observed after the patient stopped IM treatment for overall 16 months.A complete cytoge-netic and molecular cytogenetic analysis was performed and application of molecular genetic methods such as reverse transcription polymerase chain reaction (RT-PCR) finally characterized a complex karyotype including an inv dup(22)(q11.23), a del(9)(p24p12) tetrasomy 8 and trisomy 19. Obviously BC resulted in the present patient after to IM treatment was interrupted. The underlying mechanisms and prognostic implications of these cytogenetic abnormalities are discussed. This work was supported by the AECS, in parts by the DAAD.
INTERSTITIAL DELETION 9P23 TO 9P11.1 AS SOLE ADDITIONAL ABNORMALITY IN A PHILADELPHIA POSITIVE CHRONIC MYELOID LEUKEMIA IN BLAST CRISIS: A RARE EVENT
Wafa A.1, Asa'adM.1, Ikhtiar A.2, Liehr T.3, Al-Achkar W.1
1Human Genetics Division, Department of Molecular Biology and Biotechnology, Atomic Energy Commission, Damascus, Syria
2Mammalians Biology Division, Department of Molecular Biology and Biotechnology, Atomic Energy Commission, Damascus, Syria
Jena University Hospital, Institute of Human Genetics, Jena, Germany
РОССИЙСКИЙ ВЕСТНИКПЕРИНАТОЛОГИИ И ПЕДИАТРИИ, 4, 2015
