To identify cooperating lesions in core-binding factor acute myeloid leukemia, we performed single-nucleotide polymorphism-array analysis on 300 diagnostic and 41 relapse adult and pediatric leukemia samples. We identified a mean of 1.28 copy number alterations per case at diagnosis in both patient populations. Recurrent minimally deleted regions (MDRs) were identified at 7q36.1 (7.7%), 9q21.32 (5%), 11p13 (2.3%), and 17q11.

Extramedullary plasmacytoma (EMP) is an uncommon plasma cell neoplasm results from plasma cell proliferation and consists of monoclonal plasmacytic infiltration, without bone marrow involvement and any other systemic characteristics of multiple myeloma. EMP accounts for 3% of all plasma cell neoplasms and approximately 80% to 90% of EMP involve submucosa of the upper aerodigestive, while scrotal, dermis and retroperitoneal infiltration are very rare. There are no consensus guidelines for treatment, but EMP is highly radiosensitive, surgery may be considered for some sites, but 11 at 30% can progress in multiple myeloma. We report here an exceptional case of recurrent EMP in much localization. It's about a man 72 years old with initially testicular plasmocytoma who generalized the plasmacytic infiltration after 16 months in skin and progressively in mediastinal and retroperitoneal plasmacytoma, without any medullar and bone involvement.

Chronic myeloid leukemia (CML), as most of cancers results from a complex interaction between genetic or non genetic factors. Exposures to xenobiotics endogenous or exogenous associated with a reduced individual ability in detoxifying activity, constitutes a risk of developing cancer. It is known that polymorphism of glutathione S-transferases (GSTs) genes affects the detoxification of xenobiotics. Thus, we conducted a case-control study in which 92 patients (Mean age ± SD, 40.62 ± 12.7 years) with CML and 93 healthy unrelated controls (Mean age ± SD, 41.38 ± 13.4 years) have participated. GSTM1 and GSTT1 genotypes were determined by multiplex polymerase chain reaction. Logistic regression was used to assess the possible link between GSTM1 and GSTT1 null genotypes and CML as well as between combined genotypes and CML. GSTM1 null genotype frequency was slightly higher in patients than control (48.9% vs. 40.9%) but, it was not associated with CML (OR 95% CI, 1.4, 0.78-2.48; p = 0.271). Moreover, GSTT1 null genotype frequency showed a similar trend between patients and control (17.4% vs. 9.7%; OR 95% CI, 1.97, 0.82-4.71; p = 0.13). Surprisingly, GSTT1 null genotype was significantly associated with the risk of CML in males (OR 95% CI, 5, 1.25-20.1; p = 0.023). The combined GSTM1 present/GSTT1 null genotype was found to have a limited effect against the risk of CML (OR 95% CI, 0.3, 0.08-0.99; p = 0.049). Our findings have shown that GSTT1 null genotype might be a risk factor of CML in males. While, GSTT1 present genotype might be considered as protective against CML. However, further studies with a large sample size are needed to confirm our findings.

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Multidrug resistance gene 1 (MDR1) is known for its involvement in the detoxification through the active transport of toxic compounds from diverse origins outside the cells. These compounds could cause injury to cell DNA, which might lead in cancer like chronic myeloid leukemia (CML). Individual inherited genetic differences related to polymorphism in detoxification enzymes could be an important factor not only in carcinogen metabolism but also in susceptibility of cancer. The present study aimed to investigate the association of three single nucleotide polymorphisms (SNPs) of the MDR1 gene in the susceptibility of CML. We successively have determined the genotype profiles of 1236 C>T (exon 12); 2677 G>T (exon 21), and 3435 C>T (exon 26) SNPs by PCR-RFLP in 89 patients and 99 unrelated healthy controls. Logistic regression was used to assess the effect of each SNP on the development of CML. Interestingly, in exon 12, the 1236 TT was significantly associated with the susceptibility of CML when compared to the wild type 1236 CC (OR 2.7; 95% CI 1-7.32, p = 0.041). Additionally, the recessive model 1236 TT vs. 1236 CC/CT showed a risk of 3.3 fold (p = 0.011) with CML. In exon 26, the 3435 CT genotype was associated with a reduced risk of CML (OR 0.5; 95% CI 0.3-1, p = 0.042). In exon 21, the 2677 GT genotype seems to have a protective effect (OR 0.6; 95% CI 0.32-1.1, p = 0.074). Diplolotypes analysis has demonstrated no effect in susceptibility of CML, but 1236 CT/3435 CC and 1236 CC/2677 GT were associated with a protective effect. The haplotypes analysis showed no particular trend (global association p = 0.33). Our findings demonstrate that 1236 TT in exon 12 might contribute in the susceptibility of CML, while the 3435 CT in exon 26 as well as 1236 CT/3435 CC and 1236 CC/2677 GT combinations might be protective factors.

The glutathione S-transferases (GSTs) are phase II xenobiotic metabolizing enzymes known to be involved in the detoxification of carcinogens and anticancer drugs. Individual genetic variation linked to inherited polymorphisms of GSTT1 and GSTM1 leading to a complete loss of enzyme activity could expose subjects to develop cancer or to induce drug resistance. Indeed, despite the impressive results obtained with the imatinib, some patients with chronic myeloid leukemia (CML) fail to achieve the expected results or develop resistance. The present study aimed to examine the impact of GSTT1 and GSTM1 polymorphisms on the response to imatinib in patients with CML. Multiplex polymerase chain reaction was used to detect the genotypes of GSTT1 and GSTM1 in 60 CML patients. We found that side effects were more frequent in patients carrying GSTT1 null when compared to GSTT1 present carriers (31 vs. 16.6 %; χ (2) = 6.2; p = 0.013). The loss of hematologic response was statistically greater in patients carrying the combined genotype GSTT1 present/GSTM1 present (26.3 %) when compared to GSTT1 null/GSTM1 present (12.8 %), GSTT1 present/GSTM1 null (8.3 %) and GSTT1 null/GSTM1 null (0 %), (χ (2) = 18.85; p < 0.001). The complete cytogenetic response was higher in patients harboring the GSTT1 null/GSTM1 null (75 %) compared with GSTT1 null/GSTM1 present (55.6 %), GSTT1 present/GSTM1 null (50 %) and GSTT1 present/GSTM1 present (47.8). On the other hand, the frequency of none cytogenetic responders was more common in patients carrying GSTT1 present/GSTM1 present (34.8 %) when compared to other genotype combinations (χ (2) = 20.99; p = 0.05). Moreover, the GSTT1 present/GSTM1 present appeared to be associated with a final dose of 600 or 800 mg of imatinib, but not significantly. Based on these findings, we find that the interaction between GSTT1 and GSTM1 seems to influence treatment outcome in patients with CML. Therefore, further investigations are required to confirm these results, for better genotype-phenotype correlation.

Treatment of acute myeloblastic leukemia in children, adolescents and young adults (AYA) is a challenge in low-income countries. To evaluate treatment outcomes of children (B 15 years) and AYA (15-30 years) diagnosed with novo AML and treated in a single center according to the AML-MA 2011 protocol. From January 2011 to December 2015, eligible patients (age B 30 years) with novo AML had been enrolled on a uniform treatment protocol. The diagnosis was confirmed according to the FAB classification using the WHO 2008 criteria. Patients with WBC C 50 G/L had pretreated 4 days of hydroxyurea followed by two inductions and two consolidations. Supportive care consisted of transfusion of labile blood products, antibiotics and antifungals, and patient and family education by the hygiene team. 155 patients were recruited, 41 were \ 15 years old (22 boys, median age 7.8 years). Of the 114 AYA enrolled, (48 women, median age 23 years). Complete remission after two inductions was 28/41 (68.3%) of the children, including 100% of the children in the favorable group and 71/114 (62.3%) of the AYA, 22 of whom (68.7%) were in the favorable group. The number of deaths among children was 6 (14.6%). The evaluation of the AML-MA-2011 National Protocol in the age groups of children and AYA reveals that the objective of treatment is almost achieved in terms of complete remission in the two age groups.

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