الفهرس 
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Gene studyOnly 14 pages are availabe for public view
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Abstract
Conventional cytogenetic study (CCS) has been the gold standard for more than five decades for detecting genetic alterations that are greater than 10 MB in size (Peterson et al., 2015). FISH is a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of the chromosome with a high degree of sequence complementarity to detect small deletions and duplications that are not visible using microscope analysis (Bishop 2010). Haematological malignancies (HM) are a group of diseases characterized by a spectrum of genetic markers which have diagnostic and prognostic implications (Peterson et al., 2015). It was reported that MYCN amplification and age at diagnosis are the two most powerful predictors of outcome of neuoroblastoma. Also, it was found that amplification of the MYCN oncogene is mutually exclusive in neuroblastomas from patients of all ages and stages of disease (Zeineldin et al., 2020). The current study assessed the diagnostic and prognostic values of cytogentics studies in hematological malignancies and neuroblastoma over 10 years in South Egypt Cancer Institute. The current study enrolled 3810 patients (3230 patients had Hematological malignancies (HM) and 580 patients had neuroblastoma NB). HM in the current study accounted for 11% of all cancer cases who admitted to South Egypt Cancer Institute in the study period BCR-ABL was done in 620 patients with B-acute lymphocytic leukaemia (B-ALL) where 230 (37.1%) patients had positive test and 390 (62.9%) patients had negative test. In comparison between those with positive and negative BCR-ABL, we noticed that Majority of patients with B-ALL either with positive or negative BCR-ABL had complete response to therapy while 20(5.1%) patients with negative BCR-ABL and 40(17.4%) patients with positive PCR-ABL were resistant to therapy. Also, BCR-ABL was performed in 490 patients with Pre B-acute lymphocytic leukaemia (pre B-ALL) where 200 (40.8%) patients had positive BCR-ABL and 290 (59.2%) patients had negative BCR-ABL. Majority of patients with pre B-ALL either with positive or negative BCRABL had complete response to therapy while only 30 (10.3%) patients with negative BCR-ABL and 10 (5%) patients with positive BCR-ABL were resistant to therapy. 50 (25%) patients with positive BCR-ABL and 70 (24.1%) patients with negative BCR-ABL had been relapsed Seventy patients with common B-ALL had performed BCR-ABL where 10 (14.3%) and 60 (85.7%) patients had positive and negative BCRABL, respectively. All patients with positive or negative BCR-ABL had complete response to therapy. Only ten patients with negative BCR-ABL had a relapse BCR-ABL was done in 390 patients with T-ALL; 40 (10.3%) patients had positive BCR-ABL and 350 (89.7%) patients had negative BCR-ABL. Only 40 (11.4%) patients with negative BCR-ABL were resistant to therapy, all patients with T-ALL had complete response to therapy. BCR-ABL was performed in 590 patients with CML in the current study. Out of those patients; 560 (94.9%) patients had positive BCR-ABL and 30 (5.1%) patients had negative BCR-ABL. Majority of patients with CML either with positive or negative BCR-ABL had complete response to therapy while 57 (10.2%) patients with positive BCR-ABL were resistant to therapy. Majority of patients in both groups were alive but those with positive BCR-ABL had significantly higher overall survival (68 (68-90) vs. 27 (27-34); P <0.001) in comparison to those with negative BCR-ABL. PML/RARA t (15; 17) was performed in 490 patients with AML-M3 and all of them had positive t (15; 17). Majority 390 (79.5%) of those patients responded to therapy. In 130 patients with AML-M2, t (8;21) was performed where 80 (61.5%) patients had positive t (8;21) and 50 (38.5%) patients had negative t (8;21). Majority 70 (87.5%) of patients with positive t (8; 21) had complete response to therapy while majority 30 (60%) of patients with negative t (8; 21) were resistant to therapy50 (62.5%) patients with positive t (8; 21) had been relapsed. MLL rearrangement was performed in 90 patients with AML-M5. 70 patients of them had negative MLL rearrangement and 20 patients of them had positive MLL rearrangement. 10 (50%) of those with positive MLL rearrangement and 50 (71.4%) patients with negative MLL rearrangement had complete response to therapy. Patients with positive MLL rearranagment had signficantly higher DFS (41 (41-41) vs. 25 (930) months; P< 0.001). Monosomy-7 was performed in 100 patients with JMML. 50 patients had positive Monosomy-7 and also, 50 patients had negative Monosomy-7. Majority 30 (60%) of those with positive Monosomy-7 had complete response to therapy but majority 40 (80%) of those with negative Monosomy-7 were resistant to therapy It was noticed that 50 patients with AML-M4, inv (16) was performed. 40 (80%) patients had positive inv (16). All of them responded to therapy. 10 (20%) patients had negative inv (16) ,7(70%) of them had complete response to therapy. Overall survival for those with positive inv (16) was significantly higher than those with negative inv (16) (17 (17-19) vs. 7 (2-11) months; P< 0.001). E2A break apart t(1; 19) was performed in 50 patients with pre BALL. 30 patients had negative t(1; 19) and 20 patients had positive t(1; 19) but all 50 patients responded to therapy and were alive. OS in patients with negative t(1; 19) was significantly higher in comparison to those with negative t(1; 19) [ (50 (50-52) vs. 19 (14-23); P< 0.001]. The current study included 580 patients were diagnosed to have neuroblastoma. N-myc was done in all of them where 260 (45%) had positive N-myc while it was negative in 320 (55%) patients. Majority (88.6%) of those with negative N-myc had complete response to therapy while majority (65.4%) of those with positive N-myc were resistant to therapy with significant differences between both groups (P< 0.001).