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Öğe A novel autosomal recessive candidate gene responsible for rasopathy-like phenotype and bone marrow failure: rasa3(2024) Ayaz, Akif; Doğru, Zeynep; Kök, Kıvanç; Bayram, Nihan; Yaman, Yöntem; Köseoğlu, Abdullah Hüseyin; Yiğitbaşı, Türkan; Öztürk Demir, Aslı Güner; Yüksel, Elçin; Dündar, Burcu; Çaralan, Erdal Fırat; Nepesov, Serdar; Elli, MuratAlthough many genetic etiologies, such as Fanconi anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, and Diamond-Blackfan anemia, from hereditary bone marrow failure are known today, the responsible gene remains unknown in a significant part of these patients. A 6-year-old girl, whose parents were first-cousin consanguineous, was referred to the pediatric hematology department due to growth retardation, thrombocytopenia, neutropenia, and anemia. The patient had low-set ears, pectus excavatum inferiorly, and cafe-au-lait spots. In whole-exome analysis, p.K385T (c.1154A > C) variant in the RASA3 gene was detected as homozygous. The amino acid position of the alteration is located in the conserved and ordered region, corresponding to the Ras GTPase activation domain (Ras-GAP) in the center of the protein. Importantly, most of in silico prediction tools of pathogenicity predicts the variant as damaging. RASopathies, which are characterized by many common clinical findings, such as atypical facial features, growth delays, and heart defects, are a group of rare genetic diseases caused by mutations in the genes involved in the Ras-MAPK pathway. The findings in this patient were consistent with the RASopathy-like phenotype and bone marrow failure. Interestingly, enrichment of RASopathy genes was observed in the RASA3 protein-protein interaction network. Furthermore, the subsequent topological clustering revealed a putative function module, which further implicates RASA3 in this disease as a novel potential causative gene. In this context, the detected RASA3 mutation could be manifesting itself clinically as the observed phenotype by disrupting the functional cooperation between the RASA3 protein and its interaction partners. Relatedly, current literature also supports the obtained findings. Overall, this study provides new insights into RASopathy and put forward the RASA3 gene as a novel candidate gene for this disease group.Öğe Chronic neutropenia in childhood: Laboratory and clinical features(Springer India, 2022) Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Ayaz, Akif; Anak, SemaObjectives To describe the clinical characteristics of patients with chronic neutropenia. Methods Data of 36 patients with chronic neutropenia, who were followed up in the authors' clinic between May 2013 and May 2020, were analyzed retrospectively. Patients were diagnosed based on their clinical and laboratory characteristics. Results A total of 36 patients (23 females, 13 males) were included in the study. The mean age at diagnosis was 9.85 +/- 9.17 mo while the mean follow-up time was 21.83 +/- 20.03 mo. The mean absolute neutrophil count (ANC) at admission was 462.5 +/- 388.8 cells/mm(3) (median = 375 cells/mm(3)), and the lowest and highest ANC mean was 241.2 +/- 262.1 cells/mm(3) (median = 125 cells/mm(3)), and 1362.9 +/- 1127.9 cells/mm(3) (median = 925 cells/mm(3)), respectively. Idiopathic neutropenia was found in 28 (77.8%) patients, autoimmune neutropenia in 6 (16.7%) patients, and congenital neutropenia in 2 (5.6%) patients. Neutrophil normalization was observed in 19 (52.8%) of the patients. Conclusions Chronic neutropenia is a heterogeneous picture that presents with different clinical symptoms in childhood. The cause of neutropoenia in children is usually benign and resolves spontaneously but especially in those with severe neutropoenia genetic examination should be performed.Öğe Clinical efficacy of ruxolitinib monotherapy and haploidentical hematopoeitic stem cell transplantation in a child with philadelphia chromosome-like relapsed/refractory acute lymphoblastic leukemia(Wiley, 2021) Bayram, Nihan; Yaman, Yöntem; Özdilli, Kürşat; Telhan, Leyla; Nepesov, Serdar; Bilgen, Hülya; Elli, Murat; Behar, Sude Sema; Anak, SemaIntroduction (Ph-like) ALL is a subset of leukemia which has a gene expression profile similar to Ph+disease, but without the presence of BCR-ABL1 translocation. Case description We reported an exceptional case of a child with relapsed Ph-like ALL with IKZF1 gene deletion treated with high-dose ruxolitinib as monotherapy, after multi-agent chemotherapy. He remains in continued MRD-negative leukemia remission with full donor chimerism at 12 months post-HSCT. Discussion The circumstance that makes our case featured is the usage of ruxolitinib as monotherapy. This report, we believe, is a pioneering report for a frequent disease with a high risk of failure for the outcome.Öğe Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis(AVES, 2022) Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Kıykım, Ayça; Çakır, Deniz; Kılıç, Betül; Aydın, Kürşad; Ayaz, Akif; Telhan, Leyla; Anak, SemaObjectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophagocytic lymphohistiocytosis patients. Materials and Methods: Medical records of 9 patients diagnosed with primary hemophagocytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retrospectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. Results: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was performed in 7 (78%) patients. Conclusion: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoietic stem cell transplantation as soon as they reach the disease remission.Öğe Eltrombopag for treatment of thrombocytopenia after allogeneic hematopoietic cell transplantation in children: Single-centre experience(Wiley, 2021) Yaman, Yöntem; Elli, Murat; Şahin, Şifa; Özdilli, Kürşat; Bilgen, Hülya; Bayram, Nihan; Nepesov, Serdar; Anak, SemaDelayed recovery of thrombocytopenia is a well-known complication after allogeneic HSCT. Eltrombopag (ELT), a thrombopoietin receptor agonist (TRAs), induces platelet maturation and release. Mostly conducted in adults, some of the previous studies have shown that ELT seems to enhance platelet recovery for post-allogeneic HSCT thrombocytopenia, appears efficacious, and offers transfusion independence. To evaluate the safety and efficacy of ELT in pediatric patients with prolonged isolated thrombocytopenia (PIT) or secondary failure of platelet recovery (SFPR) after alloHSCT. Retrospective analysis of childhood patients who received treatment with ELT for persistent thrombocytopenia after alloHSCT between May 2016 and August 2019. We evaluated the safety and efficacy of ELT in 18 childhood patients with PIT or SFPR after alloHSCT. Eltrombopag (50 mg/d) treatment was started in all patients, above 6 years of age and 20 kg weight, who had thrombocytopenia despite neutrophil engraftment on the 30th day of HSCT. Our objective was to decrease the need for platelet transfusion and have a platelet count of more than 50 000/mu L. The overall response rate was 77.7%. The median time to achieve a platelet level above 30 000/mu L and 50 000/mu L was 21 and 44 days, respectively. In four patients, platelet count never reached 30 000/mm(3). In two patients, the treatment was discontinued due to grade 3 hepatotoxicity. Our study supports the efficacy and relative safety of ELT use for the treatment of PIT and SFPR seen after alloHSCT in children.Öğe Eltrombopag for treatment of thrombocytopenia after autologous stem cell transplantation in children single center experience(2025) Bayram, Nihan; Yaman, Yöntem; Özdilli, Kürşat; Nepesov, Serdar; Odaman Al, Işık; Elli, Murat; Anak, SemaIntroduction: Thrombocytopenia is a common clinical problem in cancer patients undergoing high-dose chemotherapy and autologous hematopoietic stem cell transplantation (HSCT). It can occur as prolonged isolated thrombocytopenia (PIT) or secondary failure of platelet recovery (SFPR) and may cause potentially fatal bleeding. However, data on the treatment of post-transplant thrombocytopenia is still lacking. Methods: We reported our practices involving 15 pediatric patients who received eltrombopag (ELT) treatment for PIT and SFPR after autologous HSCT. Results: The overall response was 78.5% (11/14), with 1 patient excluded due to noncompliance. The 12 surviving patients' median follow up was 699 days (range: 167 to 2250 d). Conclusions: Our study indicates the efficacy and safety of ELT for treating PIT and SFPR after autologous HSCT in pediatric patients. However, more studies are needed to confirm these findings in children.Öğe Hematopoietic stem cell transplantation in patients with severe combined immunodeficiency: A single-center experience(Istanbul University, 2022) Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Kıykım, Ayça; Anak, SemaObjective: The aim of this study was to determine the factors affecting outcomes in patients who underwent hematopoietic stem cell transplantation (HSCT) with the diagnosis of severe combined immunodeficiency (SCID). Furthermore, our aim is to share our singlecenter experience of HSCT among SCID patients. Materials and Methods: The data of patients who underwent HSCT with the diagnosis of SCID between January 2014 and January 2021 in the pediatric bone marrow transplant unit of Istanbul Medipol University were retrospectively analyzed. Demographic and clinical data, treatment regimens, donor source, type of transplantation, pre- and post-transplantation infections, and complications were evaluated. Results: Among fifteen patients who underwent HSCT, 5 (33%) were female. The mean age at diagnosis was 3 months (1-6 months), and at transplantation 6 months (3-10 months). The mean time from diagnosis to transplantation was 3 months (2-9 months). There was a history of consanguineous marriage in thirteen (87%) and sibling death in eight (53%) cases. As donors, six (40%) were siblings and five (33%) were unrelated, while four (27%) patients underwent haploid transplantation. Four (27%) patients died during the first 100 days of transplantation. The median follow-up period was 23 months (9-61 months). Overall survival probability was calculated as 73%. Conclusion: SCID should be considered as an emergency in pediatrics. Devastating complications, including severe organ damage, lifethreatening infections, and even death, could appear in case of diagnostic delay. HSCT is a currently available curative treatment option. Subjects with a confirmed diagnosis should be referred to the appropriate bone marrow transplant center and treated as soon as possible.Öğe HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia(Wiley, 2022) Bayram, Nihan; Yaman, Yöntem; Elli, Murat; Özdilli, Kürşat; Nepesov, Serdar; Doğan, Mehmet Sait; Ayaz, Akif; Anak, SemaBackground PNPK gene mutations result in DNA repair disorders and have a spectrum of neurodevelopmental manifestations. To date, cancer predisposition has not been described in patients with PNKP mutations. Observation Here, we report a patient with PNKP mutation, who developed AML at age of five and underwent reduced-intensity HSCT. Conclusion Although many DNA repair disorders are known to have increased risk of malignancy, association between PNKP mutations and malignancy is not well-described. This report is the first description of a PNPK mutation patient developing a malignancy and undergoing curative HSCT.Öğe Hodgkin lenfoma nüks ve/veya kemoterapi dirençli olgularda hematopoetik kök hücre nakli ve yüksek doz kemoterapi: Tek merkez deneyimi(İstanbul Üniversitesi, 2021) Yaman, Yöntem; Elli, Murat; Özdilli, Kürşat; Telhan, Leyla; Bayram, Nihan; Hazar, Volkan; Tuprul Sarıbeyoğlu, Ebru; Şahin, Şifa; Anak, SemaGiriş: Standart tedavi alan Hodgkin Lymphoma (HL) hastalarının yaklaşık %20’sinde hastalık dirençli seyredebilir veya tekrar edebilir. Tekrar eden/ dirençli HL’da standart tedavi yüksek doz kemoterapi ve takip eden otolog kök hücre naklidir (OKHN). Otolog KHN sonrası tekrar eden hastalarda ise allojeneik kök hücre nakli (AKHN) önemli bir kurtarma tedavisi olarak görülmektedir. Amaç: Medipol Üniversitesi Tıp Fakültesi çocuk kemik iliği nakil ünitesinde OKHN ve AKHN yapılan hastalarda sonuçları değerlendirmek. Yöntem: Tekrar eden/dirençli HL nedeniyle 2014 Kasım ile Temmuz 2019 tarihleri arasında merkezimizde OKHN yapılan 18 olgu retrospektif olarak değerlendirilmiştir. Otolog KHN sonrası hastalığı tekrar eden ve AKHN yapılan hastalarda ayrıca değerlendirilmiştir. Bulgular: Onaltı hasta halen hayattadır. Onbir hastada OKHN sonrası has talık tekrar etmiştir. Relaps eden hastalardan 10’una AKHN yapılmıştır. Bu hastalardan üçünde tekrar görülmüş olup, sekizi nakil sonrası hayattadır lar.Öğe Pazopanib maintenance therapy for ewing sarcoma in pediatric patients(Wiley, 2022) Bayram, Nihan; Elli, Murat; Yaman, Yöntem; Odaman Al, Işık; Özdilli, Kürşat; Ünal, Dilek; Özger, Harzem; Anak, Sema[Abstract Not Available]Öğe Second primer tumor after burkitt lymphoma: Medullablastoma(Wiley, 2021) Teber, Burcu Gizem; Elli, Murat; Bayram, Nihan; Yaman, Yöntem; Ünal, Dilek; Doğan, M. S.; Anak, Sema[Abstract Not Available]Öğe Unusual clinical presentation of hodgkin lymphoma in a child: Both spinal cord compression and hydronephrosis(Lippincott Williams & Wilkins, 2021) Bayram, Nihan; Yaman, Yöntem; Elli, Murat; Doğan, Mehmet S.; Ayyıldız, Suat; Telhan, Leyla; Çakır, Aslı; Ünal, Dilek; Sebirli, Fatih; Anak, SemaBackground: Hodgkin lymphoma (HL) is predominantly a nodal disease with extranodal presentation being uncommon. Presentation with neurological symptoms is not uncommon in adult patients with HL. Subdiaphragmatic involvements are less common especially in childhood. In the literature, there has been no case which presented with both spinal cord compression and bilateral hydronephrosis in pediatric patients with HL. Observation: We report a 9-year-old boy diagnosed with HL who presented with bilateral hydronephrosis and epidural involvement. Conclusion: Differential diagnosis of abdominal mass in patients presenting with spinal cord compression and/or hydronephrosis should include HL. Retrograde J ureteral stenting is the treatment of choice for malignant ureteral obstruction.
