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Türk toplumunda β Talasemili hastalarda klinik iyileştirici; temel olarak α/α olmayan zincirler arasındaki dengesizliği düzelterek kliniği iyileştiren genetik faktörleri değerlendirmek. Çalışmaya Dr. Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim Araştırma Hastanesi ve Tepecik Eğitim Araştırma Hastanesi çocuk hematoloji kliniğinde β-Talasemi Major (TM) ve β-Talasemi Intermedia (TI) tanıları ile takip edilen 84 hasta alındı. Hastaların klinik ve demografik özellikleri (β talasemi mutasyonları dahil) retrospektif olarak dosyalarından tarandı. Xmn1 polimorfizmi için tüm, α talasemi mutasyonu için sonucu olmayan hastaların testleri Ege Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalında yapıldı. Yirmi altı TI hastasında Xmn1(+/+), Xmn1(+/-) polimorfizmleri, α talasemi mutasyonları ve ılımlı β+ aleller sırasıyla 10, 1, 5, 6 olarak saptandı. Talasemi intermedialı 26 hastadan 21’i (%80,8) bir veya daha fazla iyileştirici genetik faktöre sahipti. Elli sekiz TM hastasında ise Xmn1(+/+), Xmn1(+/-) polimorfizmleri, α talasemi mutasyonları ve ılımlı β+ aleller sırasıyla 1, 3, 4, 5 olarak saptandı. Talasemi Major olarak takip edilen 58 hastadan 11’i ( %18,9) ‘u 1 veya daha fazla genetik iyileştirici genetik faktöre sahipti. Çalışmada homozigot β0 mutasyonu olup TI kliniğiyle takip edilen bütün vakalarda hastaların Xmn1 (+/+) polimorfizmine sahip olduğu görüldü. Bu çalışma β0 mutasyonu bulunan talasemilerde en önemli genetik iyileştirici faktörün Xmn1 polimorfizmi olduğunu, β+ mutasyon durumunda ise en önemli genetik iyileştirici faktörlerin β mutasyon tipi ve α mutasyonu olduğunu göstermektedir. Main purpose of this study is to evaluate the effects of some genetic modifiers; especially by correcting the imbalance between α/non α chains on clinical severity of Turkish β Thalassemia patients. Eighty-four patients diagnosed as β Thalassemia Major (TM) or β Thalassemia Intermedia (TI) were recruited from pediatric hematology clinics of Dr. Behçet Uz Children’s Hospital and Tepecik State Hospital. The clinical and demographic characteristics (including β Thalassemia mutations) of patients were retrospectively reviewed from patients’ records. Genetic analysis of patients for Xmn1 Polymorphism and α thalassemia mutations were done at Aegean University, Faculty of Medicine Department of Medical Genetics. Xmnn1 (+/+) genotype, Xmn1 (+/-) genotype, α thalassemia gene deletion, mild β+ alleles were found in 10,1,5,6 of TI patients respectively. One or more positive genetic modifiers were found in 21 patients out of 26 TI (80,8%) patients. Xmnn1 (+/+) genotype, Xmn1 (+/-) genotype, α thalassemia gene deletion, mild β+ alleles were found in 1, 3, 4,5 of TM patients respectively. One or more positive genetic modifiers were found in 11 patients out of 58 TM (18,9%) patients. In the study, all TI patients having β0 mutations had Xmn1 (+/+) genotype. This study showed that in cases of TI with β+ mutations most common genetic modifier factors are the type of mutation and presence of α thalassemia, while in cases of β0 mutations the most common genetic modifier is the presence of Xmn1 (+/+) genotype.

INTRODUCTION: Main purpose of this study is to evaluate the effects of some genetic modifiers; especially by correcting the imbalance between ?/non ? chains on clinical severity of Turkish ? Thalassemia patients. MATERIALS and METHODS: Eighty-four patients diagnosed as ? Thalassemia Major (TM) or ? Thalassemia Intermedia (TI) were recruited from pediatric hematology clinics of Dr. Behçet Uz Children’s Hospital and Tepecik State Hospital. The clinical and demographic characteristics (including ? Thalassemia mutations) of patients were retrospectively reviewed from patients’ records. Genetic analysis of patients for Xmn1 Polymorphism and ? thalassemia mutations were done at Aegean University, Faculty of Medicine Department of Medical Genetics. RESULTS: Xmnn1 (+/+) genotype, Xmn1 (+/-) genotype, ? thalassemia gene deletion, mild ?+ alleles were found in 10,1,5,6 of TI patients respectively. One or more positive genetic modifiers were found in 21 patients out of 26 TI (80,8%) patients. Xmnn1 (+/+) genotype, Xmn1 (+/-) genotype, ? thalassemia gene deletion, mild ?+ alleles were found in 1, 3, 4,5 of TM patients respectively. One or more positive genetic modifiers were found in 11 patients out of 58 TM (18,9%) patients. In the study, all TI patients having ?0 mutations had Xmn1 (+/+) genotype. CONCLUSIONS: This study showed that in cases of TI with ?+ mutations most common genetic modifier factors are the type of mutation and presence of ? thalassemia, while in cases of ?0 mutations the most common genetic modifier is the presence of Xmn1 (+/+) genotype. © 2020, Galenos Yayincilik,. All rights reserved.

Objectives To evaluate the long-term efficacy and safety of deferasirox therapy in a large observational cohort of children with transfusion-dependent thalassemia (TDT) and sickle cell anemia (SCA) in Turkey. Methods This was a multicenter, prospective cohort study including TDT and SCA patients aged 2-18 years with iron overload (>= 100 mL/kg of pRBC or a serum ferritin [SF] level >1000 mu g/L) receiving deferasirox. Patients were followed for up to 3 years according to standard practice. Results A total of 439 patients were evaluated (415 [94.5%] TDT, 143 [32.6%] between 2 and 6 years). Serum ferritin levels consistently and significantly decreased across 3 years of deferasirox therapy from a median of 1775.5 to 1250.5 mu g/L (P < 0.001). Serum ferritin decreases were noted in TDT (1804.9 to 1241 mu g/L), SCA (1655.5 to 1260 mu g/L), and across age groups of 2-6 years (1971.5 to 1499 mu g/L), 7-12 years (1688.5 to 1159.8 mu g/L), and 13-18 years (1496.5 to 1107 mu g/L). Serum ferritin decreases were also noted for all deferasirox dose groups but only significant in patients with doses >= 30 mg/kg/d (n = 120, -579.6 median reduction, P < 0.001). Only 9 (2%) patients had adverse events suspected to be related to deferasirox. Serum creatinine slightly increased but remained within the normal range. Conclusions Deferasirox has long-term efficacy and safety in children with TDT and SCA, although higher doses (>= 30 mg/kg/d) may be required to achieve iron balance. C1 [Antmen, Bulent] Acibadem Hosp, Adana, Turkey. [Karakas, Zeynep] Istanbul Univ, Med Fac, Istanbul, Turkey. [Yesilipek, Mehmet Akif; Kupesiz, Osman Alphan] Akdeniz Univ, Med Fac, Antalya, Turkey. [Sasmaz, Ilgen] Cukurova Univ, Med Fac, Adana, Turkey. [Uygun, Vedat; Kurtoglu, Erdal] Antalya Training & Res Hosp, Antalya, Turkey. [Oktay, Gonul] Antakya State Hosp, Antakya, Turkey. [Aydogan, Gonul; Salcioglu, Zafer] Kanuni Sultan Suleyman Training & Res Hosp, Istanbul, Turkey. [Akin, Mehmet] Denizli State Hosp, Denizli, Turkey. [Vergin, Canan] Dr Behcet Uz Child Dis Surg Training & Res Hosp, Izmir, Turkey. [Kazanci, Elif Guler] Dortcelik Child Dis Hosp, Bursa, Turkey. [Unal, Selma] Mersin Univ, Med Fac, Mersin, Turkey. [Caliskan, Umran] Necmettin Erbakan Univ, Meram Med Fac, Konya, Turkey. [Aral, Yusuf Ziya] Adnan Menderes Univ, Med Fac, Aydin, Turkey. [Turkkan, Emine] Okmeydani Training & Res Hosp, Istanbul, Turkey. [Gunes, Adalet Meral] Uludag Univ, Med Fac, Bursa, Turkey. [Tunc, Bahattin] Hematol Oncol Training & Res Hosp, Ankara Child Hlth & Dis, Ankara, Turkey. [Gumruk, Fatma] Hacettepe Univ, Med Fac, Ankara, Turkey. [Ayhan, Aylin Canbolat; Timur, Cetin] Goztepe Training & Res Hosp, Istanbul, Turkey. [Soker, Murat] Dicle Univ, Med Fac, Diyarbakir, Turkey. [Koc, Ahmet; Oymak, Yesim] Harran Univ, Med Fac, Sanliurfa, Turkey. [Ertem, Mehmet] Ankara Univ, Fac Med, Ankara, Turkey. [Yildirmak, Yildiz] Sisli Etfal Training & Res Hosp, Istanbul, Turkey. [Irken, Gulersu] Dokuz Eylul Univ, Med Fac, Izmir, Turkey. [Apak, Hilmi] Istanbul Univ, Cerrahpasa Med Fac, Istanbul, Turkey. [Biner, Betul; Eren, Tugba Gurleyen] Trakya Univ, Med Fac, Edirne, Turkey. [Balci, Yasemin Isik] Pamukkale Univ, Med Fac, Denizli, Turkey. [Kocak, Ulker] Gazi Univ, Med Fac, Ankara, Turkey. [Karasu, Gulsun] Istanbul Zeynep Kamil Women & Childrens Dis Raini, Istanbul, Turkey. [Akkaynak, Diyar] Novartis Saglik Gida & Tarim Urunleri San & Tic A, Istanbul, Turkey. [Patiroglu, Turkan] Erciyes Univ, Med Fac, Kayseri, Turkey.

22nd Congress of the European-Hematology-Association -- JUN 22-25, 2017 -- Madrid, SPAIN, WOS: 000404127006027, European Hematol Assoc

(DSRCT) is an aggressive neoplasia that occurs mainly in childhood and involves abdominal or peritoneal sites, coexpressing ectodermal and mesenchimal immunophenotypic markers. Since it is a rare tumor, we aimed to report an additional case and discuss the differential diagnosis. Case: In this study, a 3- year- old boy with a large irregular abdominal and retroperitoneal infiltrating mass is presented. A large biopsy from the abdominal mass and a nodule from the liver were excised during explorative surgery. The surgical specimens are irregular solid fragile tissues with a grey-white cut surface. Uniform malignant round cells are observed in sharply demarcated nests and sheets in a desmoplastic stroma in microscopic examination. The nuclei are hyperchromatic, nucleoli are inconspicuous and cytoplasm is scant and eosinophilic. Immunohistochemistry showed perinucleer positivity for desmin, diffuse positivity for vimentin, cytokeratin, chromogranin, plasental alkaline phosphatase and negativity for alpha fetoprotein and CD99 in tumor cells. Conclusion: DSRCT demonstrates histopathologic and phenotypic overlap with some other malignancies. Differential diagnosis includes problems especially on tru-cut biopsies. Its aggressive course and necessity of complicated therapy requires a definite differential diagnosis, Amaç: Dezmoplastik küçük yuvarlak hücreli tümör Introduction: (DKYHT), genellikle çocukluk çağında görülen, abdominal veya peritoneal yüzeylerde ortaya çıkan, ektodermal ve mezenkimal immünfenotipik özellik gösteren bir tümördür. Amacımız ender görülen ve ayırıcı tanısı sorun yaratabilen bu tümörün özelliklerini irdelemektir

Congenital leukemia is a rare disease. The majority of cases of this disease are acute myelogenous leukemia (AML). Congenital acute lymphoblastic leukemia (ALL) is rare and most often is of B cell lineage. Rarely, some cases have been designated biphenotypic or mixed phenotype acute leukemia (MPAL). Herein, we report a preterm newborn referred to us as a result of the appearance of blue-violaceous dermal nodules on her body at birth. She was a twin and the product of an in vitro fertilization (IVF) pregnancy. Physical examination showed jaundice, hepatosplenomegaly, and peripheral facial nerve palsy in addition to dermal nodules. Bone marrow aspiration showed 40% blasts of lymphoid lineage; skin biopsy and its immunohistochemistry revealed myeloblastic infiltration of the dermis. Cytogenetic analysis (46,XX), fluorescence in situ hybridization (FISH) analysis, and cranial magnetic resonance were normal. The patient was diagnosed with congenital MPAL, and an association between IVF and congenital leukemia was suggested. Copyright (C) 2013, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved.

Congenital leukemia is a rare disease. The majority of cases of this disease are acute myelogenous leukemia (AML). Congenital acute lymphoblastic leukemia (ALL) is rare and most often is of B cell lineage. Rarely, some cases have been designated biphenotypic or mixed phenotype acute leukemia (MPAL). Herein, we report a preterm newborn referred to us as a result of the appearance of blue-violaceous dermal nodules on her body at birth. She was a twin and the product of an in vitro fertilization (IVF) pregnancy. Physical examination showed jaundice, hepatosplenomegaly, and peripheral facial nerve palsy in addition to dermal nodules. Bone marrow aspiration showed 40% blasts of lymphoid lineage; skin biopsy and its immunohistochemistry revealed myeloblastic infiltration of the dermis. Cytogenetic analysis (46,XX), fluorescence in situ hybridization (FISH) analysis, and cranial magnetic resonance were normal. The patient was diagnosed with congenital MPAL, and an association between IVF and congenital leukemia was suggested.

Congenital leukemia is a rare disease. The majority of cases of this disease are acute myelogenous leukemia (AML). Congenital acute lymphoblastic leukemia (ALL) is rare and most often is of B cell lineage. Rarely, some cases have been designated biphenotypic or mixed phenotype acute leukemia (MPAL). Herein, we report a preterm newborn referred to us as a result of the appearance of blue-violaceous dermal nodules on her body at birth. She was a twin and the product of an in vitro fertilization (IVF) pregnancy. Physical examination showed jaundice, hepatosplenomegaly, and peripheral facial nerve palsy in addition to dermal nodules. Bone marrow aspiration showed 40% blasts of lymphoid lineage; skin biopsy and its immunohistochemistry revealed myeloblastic infiltration of the dermis. Cytogenetic analysis (46,XX), fluorescence in situ hybridization (FISH) analysis, and cranial magnetic resonance were normal. The patient was diagnosed with congenital MPAL, and an association between IVF and congenital leukemia was suggested. Copyright © 2013, Taiwan Pediatric Association.

Elucidation of the molecular mechanisms of leukemogenesis is important for a better understanding of the prognosis of acute lymphoblastic leukemia (ALL). Studies have shown that the expression of upregulated gene 4 (URG4), which promotes cell growth and survival, is increased in different types of carcinomas including hepatocellular carcinoma, gastric cancer and osteosarcoma. Similarly, higher expression of URG4 and cyclin D1 gene might promote proliferation of the blast cells by causing escape from the G1 checkpoint and entry into the S phase. This study reports the high expression level of URG4 in 2 high-risk ALL patients for the first time in the literature. In conclusion, the higher expression of URG4 in our 2 patients suggests that URG4 might be involved in leukemogenesis. Future studies with a large number of high-risk ALL patients and cell culture studies are needed to demonstrate the exact role of URG4 in leukemogenesis. Copyright (C) 2012 S. Karger AG, Basel

Objective: This study analyzes the clinical and laboratory findings of children with primary hemophagocytic lymphohistiocytosis (HLH) followed in various referral centers of Turkey. Materials and Methods: A simple three-page questionnaire prepared by the Turkish Histiocyte Study Group was used for documentation of patient data. Results: Age at diagnosis varied from 0.6 to 78 months (median±SD, 16.5±26.1). Sex distribution was almost equal (F/M=10/12). The frequencies of parental consanguinity and sibling death in the family history were 100% and 81.1%, respectively. The most common clinical findings were hepatomegaly (100%) and fever (95%). The most common laboratory findings were anemia (100%), hyperferritinemia (100%) and thrombocytopenia (90.9%). Triglyceride and total bilirubin levels in the deceased versus surviving group appear to be high (triglyceride: 394±183 mg/dl, 289±7 mg/dl; total bilirubin: 2.7±6.9 mg/dl, 0.5±1.2 mg/ dl, respectively). Conclusion: We concluded that fever, hepatosplenomegaly, anemia, thrombocytopenia, and hyperferritinemia are the most common clinical and laboratory findings in primary HLH. Increased triglyceride and total bilirubin level at the time of diagnosis might be an indicator of poor prognosis in HLH.

Possible clinical relevance of Nm23 expression, angiogenesis and proliferative activity were evaluated as prognostic parameters in childhood embryonal rhabdomyosarcoma (RMS).

Objective: Although the platelet destruction shows a primary role in the thrombocytopenia of idiopathic thrombocytopenic purpura (ITP), it has been demonstrated that impaired platelet production may also contribute to the severity of thrombocytopenia in ITP. The present study examined megakaryocyte apoptosis in bone marrow aspirates of children with acute and chronic ITP and investigated the role of megakaryocyte apoptosis in ITP pathophysiology. Methods: Thirteen children diagnosed with acute ITP and eight children diagnosed with chronic ITP comprised the study group. Ten children, who were hospitalized for scoliosis operation but healthy otherwise, comprised the control group. In all children, megakaryocytes were isolated from the same amount of bone marrow aspirate samples using MACS CD61 MicroBeads (Miltenyl Biotec, Auburn, CA, USA). Megakaryocyte apoptosis was studied with transferase-mediated d-UTP-bitin nick end-labeling method. Results: Isolated megakaryocyte counts did not differ significantly between acute ITP, chronic ITP and control groups. The percentage of apoptotic megakaryocytes did not differ significantly between acute ITP group and control group and between chronic ITP group and control group. The percentage of apoptotic megakaryocytes in patients with chronic ITP was significantly lower than the patients with acute ITP. There was no correlation between the percentage of apoptotic megakaryocytes and platelet counts of the cases. Conclusions: Increased megakaryocytic apoptosis does not play a role in the pathogenesis of dysmegakaryopoiesis and impaired platelet production in children with ITP. Decreased megakaryocyte apoptosis in cases with chronic ITP may be due to suppression of megakaryocyte maturation, as the terminal phase of the megakaryocyte lifespan is characterized by the onset of apoptosis.

OBJECTIVE: To study natural killer cells' spontaneous cytotoxic capacity against tumor cells and their prognostic significance in classical Hodgkin's disease.

WOS: 000071747500012, PubMed ID: 9476461, Plasma levels of IL-3 and IL-7 were studied in 23 patients with homozygous beta-thalassemia in order to determine whether these cytokines are involved in abnormalities in erythropoiesis and immune responses as observed in thalassemic patients. No significant difference was found in plasma IL-7 concentrations between thalassemic patients and healthy controls and it was suggested that IL-7 is not a cytokine involved in cellular immunological alterations in beta-thalassemia. However, the number of thalassemic patients with detectable IL-3 concentrations was significantly higher. It was concluded that IL-3 production has to be studied in detail in order to learn more about the involvement of this cytokine in erythropoiesis of thalassemic patients.