Some cytogenetic and molecular characterizations of childhood ALL could add prognostic criteria for proper therapy allocation.

The objective of the work was to evaluate children with acute lymphoblastic leukemia (ALL) showing resistance to immediate induction chemotherapy in relation to conventional and advanced cytogenetic analysis. The study was conducted on 63 ALL children (40 males and 23 females) with age range 4.5 months-16 years (mean = 7.76 years). They included 37 cases who attained a true remission and 26 complicated by failure of remission, early relapse or death. They were subjected to history, clinical examination and investigations including CBC, BM examination, karyotyping, FISH for translocations and flowcytometry for immunophenotyping and minimal residual disease diagnosis. Cases aged < 5 years; male sex with organomegaly had better remission although statistically insignificant. Initially low HB < 8 gm/dl, high WBCs and platelet counts >50.000/mm(3) also showed better but non-significant remission rates. Most of our cases were L(2) with better remission compared to other immunophenotypes. About 40 informative karyotypes were subdivided into 15 hypodiploid, 10 pseudodiploid, 8 normal diploid and 7 hyperdiploid cases; the best remission rates were noticed among the most frequent ploidy patterns. Chromosomes 9, 11 and 22 were the most frequently involved by structural aberrations followed by chromosomes 5, 12 and 17. Resistance was noted with aberrations not encountered among remission group; deletions involving chromosomes 2p, 3q, 10p and 12q; translocations involving chromosome 5; trisomies of chromosomes 16 and 21; monosomies of 5 and X and inversions of 5 and 11. Our conclusions were that cytogenetic and molecular characterizations of childhood ALL could add prognostic criteria for proper therapy allocation.

Cytogenetic and molecular characterizations of childhood ALL may add prognostic criteria for optimal therapy allocation.

Polymorphisms of genes responsible for biosynthesis and metabolism of estrogen including CYP and COMT groups might play a role in breast cancer. This study aims to investigate the association of CYP17 MspA1I, CYP1A1 MspI, CYP1B1 G>C, and COMT G>A polymorphisms with breast cancer in Egyptian women. Participants were in the form of 152 Egyptian women with cancer breast in addition to 100 healthy controls. They were subjected to DNA analysis using PCR-RFLP technique to characterize genetic polymorphisms of CYP17 MspA1I, CYP1A1 MspI, CYP1B1 G>C, and COMT G>A. Interestingly all these polymorphisms showed a positive association with cancer breast but in a variable degrees. Highest association was found with CYP1B1 C allele (p = 0.000, OR=10.26, 95% CI = 5.98 -17.8) followed by COMT A allele (p = 0.000, OR=6.66, 95% CI= 4.09 -10.9) then Cyp1A1 MspI C allele (p = 0.000, OR=4.46, 95% CI=2.68 -7.47) and lastly the CYP17 MspA1 C allele (p = 0.058, OR=1.46, 95% CI =1.0 -2.1). Regarding clinical presentation, COMT A allele carriage was significantly higher among cases with positive lymph nodes (p=0.02) and in pre-menopausal cases (p= 0.020) while CYP 17 MspA1I C allele carriage was significantly higher among cases with negative breast feeding (P= 0.043). We can come to a conclusion that rare alleles of estrogen biosynthesis and metabolizing genes particularly CYP1B1 G>C, and COMT G>A followed by CYP1A1 MspI, and CYP17 MspA1I are associated with breast cancer among Egyptian women.