Hematopoietic stem cell transplantation in patients with severe combined immunodeficiency: A single-center experience

Objective: 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

Lösemili pediyatrik hastalarda hematopoetik kök hücre transplantasyonu sonrası graft versus host hastalığı ve sağkalımda insan lökosit antijenlerinin etkisi

Objective: Hematopoietic stem cell transplantation (HSCT) is an important therapy for hematological diseases. One of the most significant complications of HSCT is graft versus host disease (GVHD), and major histocompatibility complex (MHC) is well known to affect GVHD and graft rejection. This study aimed to examine the effect of human leukocyte antigens (HLA) on the incidence of GVHD development in patients with leukemia. Methods: The association between HLA and GVHD formation was evaluated in 57 patients with HSCT with HLA-identical sibling donors, of whom 37 were boys and 20 were girls with a mean age of 10.11 years. All patients were diagnosed with leukemia; acute myeloid leukemia (n=33), acute lymphoblastic leukemia (n=15), and chronic myeloid leukemia (n=9). Transplantation pairs were worked for HLA-A, -B, -C, and -DRB1 alleles. Class I HLA antigens were investigated using Terasaki microlymphocytotoxicity, whereas class II HLA alleles with polymerase chain reaction - sequence-specific amplification method. Results: The frequency of developing GVHD in patients with HSCT was found to be 17.5% (n=10). HLA-DRB1∗04 allelic frequency [p=0.024, odds ratio (OR): 4.87] was found to be higher in patients who developed GVHD. However, the HLA-DRB1∗11 allelic frequency (p=0.031, OR: 0.12) was lower in patients who developed GVHD compared to patients who did not develop GVHD. Furthermore, HLA-B38 (p=0.002) and HLA-B41 (p=0.002) antigens were found only in patients who developed GVHD. The frequencies of the HLA-A26 allele (p=0.12) and the HLADRB1∗11 allele (p=0.037, OR: 4.0) were higher in patients with relapse after HSCT; however, the frequencies of the HLA-A2 allele (p=0.033, OR: 0.19) was lower in patients who relapsed after HSCT. Conclusion: This study assessed the relationship of HLA class with GVHD, relapse, and survival in children after HSCT in pediatric patients with leukemia.Amaç: Hematopoetik kök hücre nakli (HKHN), hematolojik hastalıklar için önemli bir tedavidir. HKHN’nin en önemli komplikasyonlarından biri, graft-versus-host hastalığıdır (GVHH) ve büyük doku uyumluluk kompleksinin (major histocompatibility complex-MHC) GVHH ve greft reddini etkilediği iyi bilinmektedir. İnsan lökosit antijenleri (human leukocyte antigen - HLA) tipinin lösemili hastalarda GVHH insidansı üzerindeki etkisini incelemeyi amaçladık. Gereç ve Yöntem: HLA uyumlu kardeş donörleri ile HKHN olan 57 hastada HLA ve akut, kronik GVHH oluşumu arasındaki ilişki değerlendirildi. Çalışmaya yaş ortalaması 10,11 olan 37 erkek ve 20 kız dahil edildi. Tüm hastaların tanıları; Akut myeloid lösemi (n=33), akut lenfoblastik lösemi (n=15), kronik myeloid lösemi (n=9) idi. Tüm nakil kardeş çiftleri HLA-A, -B, -C, -DRB1 allelleri için tiplendirildi. Sınıf I HLA antijenleri Terasaki mikrolenfositotoksisite kullanılarak saptandı ve sınıf II HLA allelleri polimeraz zincir reaksiyonu-diziye özgü primerler (polymerase chain reaction with specific primer sequence) yöntemi ile analiz edildi. Bulgular: HKHN uygulanan hastalar arasında GVHH insidansı %17,5 (n=10) olarak bulundu. HLA-DRB1*04 allelik frekansı [p=0,024, risk oranı (OR): 4,87] GVHH gelişen hastalarda daha yüksekti. Bununla birlikte, HLA-DRB1*11 allelik frekansı (p=0,031, OR: 0,12), GVHH gelişen hastalarda, GVHH geliştirmeyen hastalara göre daha düşüktü. Ayrıca, HLA-B38 (p=0,002) ve HLA-B41 (p=0,002) antijenleri sadece GVHH gelişen hastalarda bulundu. HLA-A26 alelinin (p=0,12) ve HLA-DRB1*11 alelinin (p=0,037, OR: 4,0) frekansları daha yüksekken, HLA-A2 allelinin frekansları (p=0,033, OR: 0,19) HKHN sonrası nükseden hastalarda daha düşük olarak saptandı. Sonuç: Bu çalışma, lösemili pediatrik hastalarda HKHN sonrası çocuklarda HLA sınıfının GVHH, relaps ve sağkalım ile ilişkisini değerlendiren çalışmadır

Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis

Objectİive: 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

Results of rhabdomyosarcoma treatment in a developing country.

Fifty-one children (median age: 4.5 years; 4 months-16 years) diagnosed with rhabdomyosarcoma were treated in our center between 1980-1999. The primary sites were head and neck in 31.4%, the genito-urinary system in 21.6%, and extremities in 9.8% of the patients. The histopathologic subtypes were embryonal in 80.4%, alveolar in 9.8%, and undifferentiated in 9.8%. The majority of the patients were considered group III (47%) and group IV (25.5%) according the criteria of the Intergroup Rhabdomyosarcoma Study (IRS). Primary total tumour resection was performed in only 27.5% of the patients. The patients were treated with assigned regimens of IRS II and IRS III protocols. Radiotherapy was applied to 92.1% of the patients. Thirty-four patients (66.7%) were lost to follow up, and of the remaining 17 patients, 7 patients (41.2%) died, relapse occurred in 9 patients (52.9%) and 10 patients (58.8%) are alive. The percentage of cases lost to follow up during the first 10 years and the following 9 years of the study were 77.4% and 50%, respectively. In compliance with cancer treatment remains a major problem in developing countries.</p

Hematopoietic stem cell transplantation and high dose chemotherapy in recurrent and/or chemotherapy resistant hodgkin lymphoma cases: A single center experience

Giriş: 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.Background: Nearly 20% of patients with Hodgkin Lymphoma (HL) who receive standard treatment will relapse or have a refractory disease. Standard treatment for the Relapsed/Refractory (RR) HL is salvage high dose chemotherapy followed by autologous stem cell transplantation (AuSCT). Management of RR HL after AuSCT with allogeneic stem cell transplantation (ASCT) is also considered as an important salvage therapy. Objective: To describe the outcome in pediatric patients with RR HL who underwent AuHSCT and ASCT in Medipol University hematopoietic stem cell transplantation center. Method: We retrospectively evaluated 18 pediatric patients with RR HL who underwent AHSCT between November 2014 and July 2019. The evaluation of ASCT after RR HL AuSCT is also done. Results: Sixteen patients are still alive. Eleven of them relapsed after AuHSCT. AllogeneicHSCT was performed on 10 patients who relapsed. Relapse was seen in three patients after AHSCT. Eight of them are still alive

Pediatric acute lymphoblastic leukemia (All)

5th International Eurasian Hematology Congress -- OCT 15-19, 2014 -- Antalya, TURKEYWOS: 000347244200040

Lösemili pediyatrik hastalarda hematopoetik kök hücre transplantasyonu sonrası graft versus host hastalığı ve sağkalımda insan lökosit antijenlerinin etkisi

Objective: Hematopoietic stem cell transplantation (HSCT) is an important therapy for hematological diseases. One of the most significant complications of HSCT is graft versus host disease (GVHD), and major histocompatibility complex (MHC) is well known to affect GVHD and graft rejection. This study aimed to examine the effect of human leukocyte antigens (HLA) on the incidence of GVHD development in patients with leukemia. Methods: The association between HLA and GVHD formation was evaluated in 57 patients with HSCT with HLA-identical sibling donors, of whom 37 were boys and 20 were girls with a mean age of 10.11 years. All patients were diagnosed with leukemia; acute myeloid leukemia (n=33), acute lymphoblastic leukemia (n=15), and chronic myeloid leukemia (n=9). Transplantation pairs were worked for HLA-A,-B,-C, and-DRB1 alleles. Class I HLA antigens were investigated using Terasaki microlymphocytotoxicity, whereas class II HLA alleles with polymerase chain reaction -sequence-specific amplification method. Results: The frequency of developing GVHD in patients with HSCT was found to be 17.5% (n=10). HLA-DRB1*04 allelic frequency [p=0.024, odds ratio (OR): 4.87] was found to be higher in patients who developed GVHD. However, the HLA-DRB1*11 allelic frequency (p=0.031, OR: 0.12) was lower in patients who developed GVHD compared to patients who did not develop GVHD. Furthermore, HLA-B38 (p=0.002) and HLA-B41 (p=0.002) antigens were found only in patients who developed GVHD. The frequencies of the HLA-A26 allele (p=0.12) and the HLADRB1*11 allele (p=0.037, OR: 4.0) were higher in patients with relapse after HSCT; however, the frequencies of the HLA-A2 allele (p=0.033, OR: 0.19) was lower in patients who relapsed after HSCT. Conclusion: This study assessed the relationship of HLA class with GVHD, relapse, and survival in children after HSCT in pediatric patients with leukemia.Amaç: Hematopoetik kök hücre nakli (HKHN), hematolojik hastalıklar için önemli bir tedavidir. HKHN’nin en önemli komplikasyonlarından biri, graft-versus-host hastalığıdır (GVHH) ve büyük doku uyumluluk kompleksinin (major histocompatibility complex-MHC) GVHH ve greft reddini etkilediği iyi bilinmektedir. İnsan lökosit antijenleri (human leukocyte antigen - HLA) tipinin lösemili hastalarda GVHH insidansı üzerindeki etkisini incelemeyi amaçladık. Gereç ve Yöntem: HLA uyumlu kardeş donörleri ile HKHN olan 57 hastada HLA ve akut, kronik GVHH oluşumu arasındaki ilişki değerlendirildi. Çalışmaya yaş ortalaması 10,11 olan 37 erkek ve 20 kız dahil edildi. Tüm hastaların tanıları; Akut myeloid lösemi (n=33), akut lenfoblastik lösemi (n=15), kronik myeloid lösemi (n=9) idi. Tüm nakil kardeş çiftleri HLA-A, -B, -C, -DRB1 allelleri için tiplendirildi. Sınıf I HLA antijenleri Terasaki mikrolenfositotoksisite kullanılarak saptandı ve sınıf II HLA allelleri polimeraz zincir reaksiyonu-diziye özgü primerler (polymerase chain reaction with specific primer sequence) yöntemi ile analiz edildi. Bulgular: HKHN uygulanan hastalar arasında GVHH insidansı %17,5 (n=10) olarak bulundu. HLA-DRB1*04 allelik frekansı [p=0,024, risk oranı (OR): 4,87] GVHH gelişen hastalarda daha yüksekti. Bununla birlikte, HLA-DRB1*11 allelik frekansı (p=0,031, OR: 0,12), GVHH gelişen hastalarda, GVHH geliştirmeyen hastalara göre daha düşüktü. Ayrıca, HLA-B38 (p=0,002) ve HLA-B41 (p=0,002) antijenleri sadece GVHH gelişen hastalarda bulundu. HLA-A26 alelinin (p=0,12) ve HLA-DRB1*11 alelinin (p=0,037, OR: 4,0) frekansları daha yüksekken, HLA-A2 allelinin frekansları (p=0,033, OR: 0,19) HKHN sonrası nükseden hastalarda daha düşük olarak saptandı. Sonuç: Bu çalışma, lösemili pediatrik hastalarda HKHN sonrası çocuklarda HLA sınıfının GVHH, relaps ve sağkalım ile ilişkisini değerlendiren çalışmadı

High ferritin levels in fever of unknown origin: Possible first sign of hemophagocytosis in bmt patients?

...European Hematology Associatio