The Role of FLT3-ITD and CCAAT-Enhancer-Binding Protein α Mutations on Prognosis of Acute Lymphoblastic Leukaemia in Turkish Patients

ABSTRACT Background: Acute lymphoblastic leukaemia (ALL) is the most common malignancy in childhood. Although some prognostic factors have been defined to date, the estimation of prognosis is currently not perfect. Previous studies had shown an association of FLT3 with poor prognosis and CCAAT-enhancer-binding protein α (CEBPA) mutation with the development of acute myeloid leukaemia (AML). Here, we aimed to evaluate the prognostic value of FLT3-ITD and CEBPA mutations in ALL. Methods: Sixty-one patients with ALL were included in the study. The patients were divided into three risk groups according to BFM risk classification. All of the patients were examined for FLT3-ITD mutations and 45 of them for CEBPA mutations. Mutation positive and negative patients were compared in terms of their risk groups, translocations and cell lineage. The clinical courses of the patients were appraised. Results: FLT3-ITD mutation was detected in 3 of the 61 patients, and CEBPA mutations were detected in 11 of the 45 patients. The incidence of established prognostic indicators including BFM risk classification, t(9; 22); BCR-ABL, t(1; 19); E2A-PBX1, t(12; 21); TEL-AML1, t(4; 11); MLL-AF4 were similar between FLT3-ITD and CEBPA positive and negative patients. A patient with an FLT3-ITD mutation was very susceptible to pancytopenia after maintenance treatment and two other patients with FLT3-ITD mutations were more prone to febrile neutropenia. Conclusion: Our results suggested that CEBPA or FLT3-ITD mutations might not be related to ALL prognosis in the sampled Turkish patients. However, FLT3-ITD mutation might have an influence on the response of bone marrow to chemotherapy.

Evaluation of children with juvenile idiopathic arthritis in southeastern Turkey: a single center experience.

BACKGROUND: The aim of this study was to investigate the disease characteristics of children with juvenile idiopathic arthritis (JIA) in southeast Turkey. METHODS: The International League of Associations for Rheumatology (ILAR) criteria were used to diagnose JIA. Hospital records of the Pediatric Rheumatology Unit, of the Dicle University Hospital, were reviewed retrospectively and demographic, clinical and laboratory data were recorded. RESULTS: Totally 213 children (103 boys, 110 girls), with an age range of 1.6-18 years were enrolled. The mean age of the disease onset was 8.1 years. Polyarticular type was the most common (42.3%) presentation. The frequencies of other JIA subtypes were as follows: oligoarticular 37.1%, systemic 8.9%, enthesitis-related arthritis (ERA) 10.8% and psoriatic arthritis 0.9%. The knees (74.2%) and ankles (54.0%) were the most commonly affected joints. Uveitis was found in 4.2% of patients. Anti-nuclear antibodies were positive in 11.7% and HLA-B27 in 2.8% of patients. Active disease was seen in 57 (26.7%) patients at the last visit. CONCLUSION: In the present study, polyarticular JIA was the predominant subtype and there were fewer patients with positive ANA or uveitis compared to previous studies. Hippokratia 2015, 19 (1): 63-68.

The frequency of MEFV gene mutation in patients admitted to hospital with preliminary diagnosis of familian mediterranean fever who undergone a prior appendectomy.

OBJECTIVES: Familial mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent and self-limiting fever, peritonitis, arthritis, synovitis, pleuritis, carditis, and erysipelas-like lesions. The aim of this study was to investigate the frequency of the MEFV gene mutation in patients who admitted to hospital with preliminary diagnosis FMF and who had undergone a prior appendectomy. PATIENTS AND METHODS: We retrospectively reviewed the files of 52 patients between the ages of 7-18 who admitted to hospital with preliminary diagnosis of FMF and who had undergone a prior appendectomy. Age, gender and the MEFV gene mutations were included in the data. The 12 known, common MEFV gene mutations [E148Q, P369S, F479L, M6801 (G/C), M6801 (G/A), 1692del, M694V, M6941, K695R, V726A, A744S, R761H] were investigated in the patients. RESULTS: Of these 52 cases, 29 (55.8%) were female and 23 (44.2%) were male. Their mean age was 12.1 +/- 3.1 years (range 7-18 yr). MEFV gene mutation was detected in 31/52 cases (59.6%). In this study was found an high frequency of the MEFV gene mutation in patients admitted to hospital with a preliminary diagnosis FMF who had undergone a prior appendectomy. MEFV gene mutations were M694V 16/41 (39%), E148Q 13/41 (31%), M6801 6/41 (15%), V726A 4/41 (10%) and R761H 2/41 (5%). Other genes mutations were F479L, M6801 (G/A), 1692del, M6941, K695R and A744S. CONCLUSION: There are too much indications of unnecessary appendectomy in MEFV gene mutation carriers. In MEFV gene mutation carriers the frequency of appendicitis can be higher than the normal population. A more detailed and extensive study should be done about it.

A case of Gianotti Crosti syndrome with HBV infection.

Gianotti-Crosti syndrome (papular acrodermatitis of childhood), which was first described in 1955, is a nonspecific rash that usually consists of the abrupt onset of pink flesh coloring, smooth or lichenoid, flat-topped papules. It was first related to hepatitis B virus (HBV) infection; however, cases not associated with HBV infection were reported as well. Although a type of delayed hypersensitivity reaction is speculated as a cause, exact pathogenesis still remains unclear. The prognosis is favorable and successful management relies upon general supportive and symptomatic care. We report a seven-year-old boy diagnosed with Gianotti-Crosti syndrome with monomorphous papules on his cheeks, buttocks and extremities associated with hepatitis B virus infection.