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Background Xeroderma pigmentosum is a rare inherited disease characterized by extreme hypersensitivity to ultraviolet rays and predisposing to cutaneous malignancies that can appear in childhood. These manifestations are often associated with ocular lesions and sometimes with neurological disorders. The association of xeroderma pigmentosum with internal neoplasms such as acute myeloblastic leukemia is not reported with great frequency, which confirms the rarity of this occurrence. Case report A 26-year-old Moroccan women, xeroderma pigmentosum patient, was diagnosed with acute myeloblastic leukemia with a complex karyotype. Due to the adverse risk of the xeroderma pigmentosum association with acute myeloblastic leukemia and the profile of acute myeloblastic leukemia with complex karyotype and monosomy 7, which constitute factors of poor prognosis, as well as the absence of studies conceding the tolerance of the chemotherapy by patients suffering from xeroderma pigmentosum, our patient was put under low-dose cytarabine protocol with granulocyte colony-stimulating factor. Unfortunately, she died on the tenth day of chemotherapy by acute pulmonary edema of cardiogenic pace complicated by tamponade. Conclusion According to reports, it is the second case showing association of xeroderma pigmentosum with acute myeloblastic leukemia. The management of these patients remains a challenge. Studies focusing on xeroderma pigmentosum patients developing hematological malignancies are necessary to better understand the most appropriate strategies and precautions for this specific case.

Resume Introduction Le traitement de la leucemie myeloide chronique (LMC) a ete revolutionne par l’avenement des inhibiteurs de tyrosine kinase. Les resultats de l’essai IRIS ont demontre l’efficacite et la tolerance a long terme de l’Imatinib. L’objectif de notre travail etait de rapporter les resultats a 15 ans du traitement de la LMC par l’Imatinib au Maroc. Patients et methodes Etude retrospective realisee au service d’hematologie du CHU d’Ibn-Rochd a Casablanca, du janvier 2003 a septembre 2018, incluant tous les patients LMC en phase chronique traites par Imatinib pendant une duree minimale de 6 mois. Resultats Au total, 318 patients ont ete colliges, la mediane d’âge etait de 41,5 ans avec un sexe-ratio H/F de 0,7. Le score de Sokal etait eleve dans 56 % des cas. La reponse hematologique complete a 3 mois etait de 92 %, la reponse cytogenetique complete a 12 mois et la reponse cytogenetique complete cumulative etaient obtenues dans 43 % (29/67) et 55 % (153/279) des cas respectivement, la reponse moleculaire etait evaluee chez 125 patients dont 85 % etaient en reponse moleculaire majeure. Sur un recul median sous traitement de 44 mois, la survie globale et la survie sans evenement a 10 ans etaient de 86 % et 59 %, respectivement. Discussion Notre profil est caracterise par un âge jeune des patients, la predominance feminine et un score de Sokal eleve. Le taux de reponse cytogenetique complete reste inferieur par rapport a ce qui est decrit ; cependant, les taux de survie ainsi que la tolerance sont semblables a ceux de la litterature.

The human multidrug resistance MDR1 gene plays a crucial role in the absorption, transport, metabolism and elimination of harmful compounds. An impaired metabolism of these compounds related to genetic polymorphism may cause cancer such as acute myeloid leukemia AML. Objective: The present study investigated the relationship between C1236T polymorphism and the risk of AML development in a sample of Moroccan population. Methods: The present case-control study included 131 AML patients and 136 healthy controls. The MDR1 C1236T polymorphism was identified by PCR-RFLP method. Meta-analysis was performed to discuss our results. Statistical analyses were performed using SPSS, MetaGenyo and MedCalc. Results: A positive association was found between the 1236TT mutant genotype and the risk of AML (OR 2.39; 95% CI 1.02-5.57, p= 0.04) compared to the wild type 1236CC. In addition, the recessive model revealed that carriers of 1236TT mutant genotype were more exposed to develop AML when compared to the combined 1236CC/CT genotype (OR: 2.27, CI: 1.01–5.05, p=0.04). The clinical parameters of AML showed no significant association. Meta-analysis demonstrated no statistically significant association between this polymorphism and AML susceptibility. Conclusion: Our study suggests that the MDR1C1236T polymorphism appears to be associated with the risk of AML. Further studies, including a large sample size, are needed to confirm these findings.

Leukemia stem cells (LSCs) have been demonstrated to be more therapy-resistant than leukemic blast cells reflecting measurable residual disease (MRD). CD34+CD38- cell frequency is an independent factor for relapse prediction and could therefore be used in the future to improve MRD assessment in acute myeloid leukemia (AML). This protocol is designed to enable accurate and reproducible immunophenotypic detection of measurable residual stem cell disease necessary for proper therapeutic decision and report their prognostic value in AML patients.Fifty-four Novo AML adult patients diagnosed in the onco-hematology service of the "20 August 1953" Hospital in Casablanca. We analyzed phenotype and frequency of CD45dim CD34+CD38- cells in bone marrow samples from patients with AML and non-myeloid malignancies using six-color flow cytometry and a simple one-tube essay.For evaluation of leukemic stem cells, our gate strategy was based on the selection of CD34+CD38 - stem cells and leukemia associated immunophenotype approach. Positivity of CD123 or/and aberrant expression of primitive markers CD117 and HLA DR on stem cells discriminate leukemia stem cells from normal hematopoietic stem cells. We reported a statistically significant difference between expressions of primitive markers (CD117 and HLA DR) on leukemic stem cells. In addition, the frequency of LSCs after complete remission in post-induction was persistent in 50% of AML patients.Overall, we show that CD34+CD38-CD123+ as a basic phenotype, with aberrant phenotype detection of HLA DR and CD117 markers on stem cells, contributes to detecting LSCs which indicates the poor prognosis.

Acute Myeloblastic Leukaemia (AML) is a malignant haemopathy characterized by infiltration and accumulation in the bone marrow by myeloblastic-type blast cells causing medullary insufficiency. At the global level, the search for improved AML treatment is a long-standing concern.PurposeTo evaluate a new protocol AML MA 2003 its therapeutic results and tolerance in de novo AML patients.MethodsIt was a prospective and descriptive unicentre study carried out from January 2003 to December 2010. It included adults of 20 to 60 years with a diagnosis of de novo AML except a promyelocytic leukemia and without treatment by hydroxyurea.ResultsA total of 962 AMLs were diagnosed, 438 met the inclusion criteria, 48.4% women and 51.6% men with a median age of 39.8 years. 36.1% received hydroxyurea in pre-induction. 96.3% patients were induced, 76 (18%) died. A total of 178 (40.6%) of the 438 evaluable patients reached the maintenance phase. The overall survival of all patients was 32.4% at 5 years. Survival without event was 17.6% for all patients.ConclusionThe results of this single-center study illustrate the difficulty of treating AML patients despite the use of drugs recognised for their effectiveness in appropriate doses.

Cytogenetic abnormalities are frequently reported in the literature describing the presence of chromosomal rearrangements in important cases of acute myeloid leukemia (AML); the rate can reach 50–60% of cases of AML. Cytogenetic abnormalities represent an important prognosis factor, their analysis is crucial for AML; cytogenetic study permits to classify prognostic groups and indicate the treatment strategy and helps to improve the outcome of these patients and to increase their chances of cure. Hundreds of uncommon chromosomal aberrations from AML exist. This chapter summarizes chromosomal abnormalities that are common and classifies AML according to the World Health Organization (WHO) classifications from 2008 to 2016; we will discuss briefly gene mutations detected in normal karyotype (NK) AML by cutting-edge next-generation sequencing technology, like FLT3-ITD, nucleophosmin (NPM1), CCAAT/enhancer-binding protein alpha (CEBPA), and other additional mutations.

The treatment of chronic myeloid leukemia (CML) has been revolutionized by the advent of tyrosine kinase inhibitors. The results of the IRIS trial demonstrated the efficacy and long-term safety profile of Imatinib. The objective of our work is to report the results at 15 years of treatment of CML in chronic phase with Imatinib in Morocco.Retrospective study realized at the hematology unit of CHU d'Ibn-Rochd in Casablanca, from January 2003 to September 2018, including all CML patients in the chronic phase at diagnosis, were treated with Imatinib for a minimum duration of 6 months.In total, 318 patients were collected, the median age was 41.5 years, the sex ratio M/F was 0.7, the Sokal score was high in 56% of cases. The complete hematological response at 3 months was 92%, the complete cytogenetic response at 12 months and the cumulative response were obtained in 43% (29/67) and 55% (153/279) of the cases respectively, the molecular response was evaluated in 125 patients witch 85% were on major molecular response. On a median follow-up of 44 months, the OS and EFS at 10 years were 86% and 59%, respectively.Our profile is characterized by a young age of the patients, the female predominance and a high Sokal score. The rate of complete cytogenetic response remains lower compared to what is described, however the survival rates as well as the tolerance were similar to those of the literature.

BACKGROUND: Concomitant thymoma and T- lymphoblastic/leukaemia lymphoma is possible. Secondary thymoma after treatment for T-lymphoblastic/leukaemia lymphoma was also occasionally reported, although this is quite rare. CASE REPORT: We report a case of 44-year-old women with secondary thymoma after chemotherapy treatment for T Acute Lymphoblastic leukaemia/lymphoma. Diagnosis of lymphoblastic/leukaemia lymphoma was made in 2015 by morphological and histological study. The patient underwent Moroccan protocol for acute lymphoblastic leukaemia (MARALL) from 2015 to 2017 and achieved complete remission. One year later, the patient developed an anterior mediastinal mass, relapse was suspected, but the surgical biopsy was performed and histological, the mass showed thymoma. CONCLUSION: At the time of diagnosis of thymoma for a patient treated for T-lymphoblastic/leukaemia lymphoma it is necessary to eliminate a relapse because the distinction between thymoma and T-lymphoblastic/leukaemia lymphoma is sometimes difficult, and the association is possible.

Acute myeloid leukemia (AML) is a very complex disease that is linked to environmental, genetic and epigenetic factors. Several Studies have found that aberrations in DNA methylation process play a crucial role in leukemogenesis. The aim of this case control study was to evaluate the association between rs1569686, rs2424913 polymorphisms located in DNMT3B gene and rs7590760 polymorphism located in DNMT3A gene and AML risk in a Moroccan population. Materials and methods The present study was conducted in 142 cases of AML and 179 control subjects from the Moroccan population. Genomic DNA was isolated from whole blood samples by salting-out method and the genotype of the three polymorphisms was determined by the PCR-RFLP technique. Results The study results indicated that rs1569686 polymorphism was significantly associated with the risk of AML in dominant model (OR = 1.72, 95 % CI 1.01–2.95, P = 0.04), but not in recessive model. In stratified analysis by gender, statistically significant association between the rs2424913 CT genotype and AML was found among males (OR = 2.05, 95 % CI 1.00–4.19, P = 0.04). Similarly, the rs1569686 TT genotype was associated with an increase risk of AML (OR = 3.21, 95 % CI 1.15–8. 98, P = 0.02), this association was also found under dominant genetic model (OR = 2.47, 95 % CI 1.07–5. 67, P = 0.03) among males. However, the rs2424913 polymorphism was not associated with AML. Conclusion Our findings have shown that rs1569686 polymorphism might be a risk factor of AML in males. While, the rs2424913 polymorphism was not associated with AML. Further studies with a large sample size are needed to validate our results.

Langerhans cell histiocytosis (LCH), formerly known as histiocytosis X, is a non-malignant disease involving clonal proliferation of Langerhans cells. It is an orphan disease affecting mainly the child and the young adult. Its etiology is still unknown, and its clinical spectrum is quite wide. Systemic treatment incorporating steroids and cytostatic drugs for at least one year has improved prognosis of multisystem LCH and represents the current standard of care. We report the case of a multifocal bone LCH in a 2-year-old girl affecting the frontal and parietal bones, associated with emphysematous bulla. The diagnosis was confirmed with histological examination. The evolution was favorable after treatment. Based on this observation, we will make a brief review of the literature to present the clinical, histological, radiological, therapeutic and evolutionary aspects of this orphan disease.

Cutaneous diffuse B-cell lymphoma leg type is a rare entity, it represents approximately 5% of primary cutaneous lymphomas. It has a poor prognosis. We report case of t 58 years old patient with a cutaneous B cell lymphoma leg type with dual location at the upper and lower limbs and bone lysis. Histological examination of the skin biopsy showed diffuse lymphomatous proliferation dissecting collagen, made of large cells with abundant cytoplasm moderately ill-defined, ovoid nuclei and with a discreet nuclear irregularity. The immunohistochemical study revealed lymphoma cells phenotype B with a homogeneous expression of CD 20, a homogeneous expression of CD 3, CD 43 positive. Bcl 2 was positive, asthe Bcl 6 and Mum 1. CD 5, CD10, MPO, CD 34, and Tdt were negative. The Ki 67 was positivein90%. The staging showed extensive osteolysis of the lower end of the humerus and the ulna. The patient received 2 courses RCHOP, with faillure of treatment, and then she received one course of RDHAP before dying. The particularity of this observation consists in the age; our patient was younger than the average, and the double localization of lymphoma in both arm and leg, with osteolysis. We discuss also the difficulties of treatment of this disease.

Background We analyzed the cytogenetic characteristics of a representative population of young adults with de novo acute myeloblastic leukemia (AML) treated in a single center institution. Methods Patients with de novo AML included were aged between 20 and 60 years. Cytogenetic analysis was done at diagnosis. Twenty cells were analyzed, although examination of lower numbers of metaphases was also acceptable if an abnormal clone was detected. Findings From 1/1/04 to 31/12/2014, among 1315 adult patients, 1055 (80%) patients were aged between 20 and 60 years. Karyotype was done in 927 (88%) patients and cytogenetic analysis failed in 32 cases (3·4%). Clonal abnormalities were observed in 520 (58%) patients. 175 (19·5%) were classified in the favorable group, 609 were in the intermediate group and 111 (12·5%) were in the adverse group. The most frequent chromosomal abnormality observed was t(8;21) in 112 (12·5%). Thirty three (3·7%) patients had t(15;17) and 30 (3·3%) had inv16, trisomy 8 was found in 47 (5·2%), 11q23 rearrangements in 32 (3·6%), 67 (7·4%) had a complex karyotype, −5/del(5q) and −7/del(7q) were seen in, respectively, 11(1%) and 27 (3%). Monosomy occurred in 115 (13%) patients, 70 (8%) responded to the definition of monosomal karyotypes. Interpretation This is the largest study done in Morocco, Africa and Middle East. Epidemiological studies involving different ethnic populations and geographic regions of the world should help unfold the true nature of environmental and genetic interplay in the development of AML. Our cytogenetic profile reveals some particularities when compared to other populations; it does not seem to be similar neither to eastern or western countries.

We conducted a retrospective analysis of 283 patients with acute myeloid leukemia (AML) treated in our unit, we will report the incidence of AML in elderly, describe cytogenetic characteristics of this population, observe rare and novel cytogenetic abnormalities and compare our finding with that previously reported in literature. Among the 283 patients, 157 (54,4%) patients performed the karyotype, cytogenetic analysis failed in 17 cases (11%). Prognostic group distribution was found to be favorable in 8 patients (6%) with 6 cases of t (8; 21) and 2 cases of inv (16), intermediate group in 94 patients (67%), including 58 cases (41,5%) with a normal karyotype, and an unfavorable group in 38 patients (27%) including complex karyotype (15%), -5 or del 5q (3%), -7 or del 7q (3.5%), t(9,22) (2%). Some rare anomalies were observed. However, occurrence of a complex karyotype was more frequent than younger patients. In our unit, elderly benefit from supportive care, our study shows that it is heterogeneous group and our treatment approach have to change especially for patient from favorable risk group who can benefit from intensive chemotherapy. We have to improve our diagnosis with including molecular genetics that provide a documented substrate for a thoughtfully considered treatment plan. AIM: The goals of this paper are: to report the incidence of AML in elderly, to describe cytogenetic characteristics of this population, to observe rare and novel cytogenetic abnormalities and lastly, to compare our finding with that previously reported in the literature. METHODS: We conducted a retrospective analysis of 283 patients with acute myeloid leukaemia (AML) treated in our unit, we will report the incidence of AML in elderly, describe cytogenetic characteristics of this population, observe rare and novel cytogenetic abnormalities and compare our finding with that previously reported in the literature. RESULTS: Among the 283 patients, 157 (54.4%) patients performed the karyotype, the cytogenetic analysis failed in 17 cases (11%). Prognostic group distribution was found to be favorable in 8 patients (6%) with 6 cases of t (8; 21) and 2 cases of inv (16), intermediate group in 94 patients (67%), including 58 cases (41,5%) with a normal karyotype, and an unfavorable group in 38 patients (27%) including complex karyotype (15%), -5 or del 5q (3%), -7 or del 7q (3.5%), t (9; 22) (2%). Some rare anomalies were observed. CONCLUSION: However, the occurrence of a complex karyotype was more frequent than younger patients. In our unit, elderly benefit from supportive care, our study shows that it is a heterogeneous group and our treatment approach have to change especially for the patient from favourable risk group who can benefit from intensive chemotherapy. We have to improve our diagnosis with including molecular genetics that provides a documented substrate for a thoughtfully considered treatment plan.

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 (≤ 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 ≤ 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 ≥ 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