Browsing by Author "Albert, Michael H."

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Clinical presentation, long-term outcome and therapeutic management of DOCK8 deficiency-an international survey of 125 patients
(Springer/Plenum, 2012-04) Albert, Michael H.; Aydın, Susanne; Alsum, Zobaida; Chatila, Talal; Su, Helen; Heinz, Valerie; Al-Herz, Waleed; Keleş, Sevgi; Picard, Capucine; Gathmann, Benjamin; Hoenig, Manfred; Almousa, Hamoud; Sawalle-Belohradsky, Julie; Gennery, Andrew; Geha, Raif S.; Renner, Ellen; Grimbacher, Bodo; Freeman, Alexandra F.; Engelhardt, Karin R.; Kılıç, Sara Şebnem; Uludağ Üniversitesi/Tıp Fakültesi.; 0000-0001-8571-2581; AAH-1658-2021
Hematopoietic stem cell transplantation positively affects the natural history of cancer in nijmegen breakage syndrome
(Amer Assoc Cancer Research, 2021-01-15) Wolska-Kusnierz, Beata; Pastorczak, Agata; Fendler, Wojciech; Wakulinska, Anna; Dembowska-Baginska, Bozena; Heropolitanska-Pliszka, Edyta; Piatosa, Barbara; Pietrucha, Barbara; Kalwak, Krzysztof; Ussowicz, Marek; Pieczonka, Anna; Drabko, Katarzyna; Lejman, Monika; Koltan, Sylwia; Gozdzik, Jolanta; Styczynski, Jan; Fedorova, Alina; Miakova, Natalia; Deripapa, Elena; Kostyuchenko, Larysa; Krenova, Zdenka; Hlavackova, Eva; Gennery, Andrew R.; Sykora, Karl-Walter; Ghosh, Sujal; Albert, Michael H.; Balashov, Dmitry; Eapen, Mary; Svec, Peter; Seidel, Markus G.; Tomaszewska, Agnieszka; Wiesik-Szewczyk, Ewa; Kreins, Alexandra; Greil, Johann; Buechner, Jochen; Lund, Bendik; Gregorek, Hanna; Chrzanowska, Krystyna; Mlynarski, Wojciech; Kilic, Sara S.; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0003-4863-4443; 0000-0003-3089-6947; 0000-0002-5083-9168; 0000-0002-2561-0636; 0000-0001-5519-2730; 0000-0001-8949-047X; 0000-0002-9723-8351; 0000-0003-1174-5799; 0000-0001-5725-4835; 0000-0001-5922-4242; 0000-0002-7094-9129; 0000-0002-8760-0775; 0000-0002-3158-119X; 0000-0002-0262-1359; 0000-0001-9143-3263; 0000-0001-6590-5802; 0000-0001-6193-4243; 0000-0002-7647-2253; 0000-0003-0981-8661; 0000-0001-8571-2581; 0000-0001-8509-4453; 0000-0001-8748-5837; 0000-0001-5848-4501; 0000-0003-2714-5851; S-9959-2016; T-7487-2019; B-4557-2018; P-1827-2019; AAH-1658-2021; N-9951-2017; AAD-5720-2020; S-9592-2016
Purpose: Nijmegen breakage syndrome (NBS) is a DNA repair disorder with a high predisposition to hematologic malignancies.Experimental Design: We describe the natural history of NBS, including cancer incidence, risk of death, and the potential effectiveness of hematopoietic stem cell transplantation (HSCT) in preventing both pathologies: malignancy and immunodeficiency.Results: Among 241 patients with NBS enrolled in the study from 11 countries, 151 (63.0%) patients were diagnosed with cancer. Incidence rates for primary and secondary cancer, tumor characteristics, and risk factors affecting overall survival (OS) were estimated. The cumulative cancer incidence was 40.21% +/- 3.5% and 77.78% +/- 3.4% at 10 years and 20 years of follow-up, respectively. Most of the tumors n = 95 (62.9%) were non-Hodgkin lymphomas. Overall, 20 (13.2%) secondary malignancies occurred at a median age of 18 (interquartile range, 13.7-21.5) years. The probability of 20-year overall survival (OS) for the whole cohort was 44.6% +/- 4.5%. Patients who developed cancer had a shorter 20-year OS than those without malignancy (29.6% vs. 86.2%; P < 10(-5)). A total of 49 patients with NBS underwent HSCT, including 14 patients transplanted before malignancy. Patients with NBS with diagnosed cancer who received HSCT had higher 20-year OS than those who did not (42.7% vs. 30.3%; P = 0.038, respectively). In the group of patients who underwent preemptive transplantation, only 1 patient developed cancer, which is 6.7 times lower as compared with nontransplanted patients [incidence rate ratio 0.149 (95% confidence interval, 0.138-0.162); P < 0.0001].Conclusions: There is a beneficial effect of HSCT on the long-term survival of patients with NBS transplanted in their first complete remission of cancer.
Nijmegen breakage syndrome: Clinical and immunological features, long-term outcome and treatment options - a retrospective analysis
(Springer/Plenum Publishers, 2015-08-01) Wolska-Kusnierz, Beata; Gregorek, Hanna; Chrzanowska, Krystyna; Piatosa, Barbara; Pietrucha, Barbara; Heropolitanska-Pliszka, Edyta; Pac, Magorzata; Klaudel-Dreszler, Maja; Kostyuchenko, Larysa; Pasic, Srdjan; Marodi, Laszlo; Belohradsky, Bernd H.; Ciznar, Peter; Shcherbina, Anna; Kılıç, Sara Şebnem; Baumann, Ulrich; Seidel, Markus G.; Gennery, Andrew R.; Syczewska, Magorzata; Mikoluc, Bozena; Kalwak, Krzysztof; Styczynski, Jan; Pieczonka, Anna; Drabko, Katarzyna; Wakulinska, Anna; Gathmann, Benjamin; Albert, Michael H.; Skarzynska, Urszula; Bernatowska, Ewa; Inborn Errors Working Party Soc; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik İmmünoloji Anabilim Dalı.; AAH-1658-2021
Purpose Nijmegen Breakage Syndrome (NBS) is a rare inherited condition, characterized by microcephaly, chromosomal instability, immunodeficiency, and predisposition to malignancy. This retrospective study, characterizing the clinical and immunological status of patients with NBS at time of diagnosis, was designed to assess whether any parameters were useful in disease prognosis, and could help determine patients qualified for hematopoietic stem cell transplantation.Methods The clinical and immunological characteristics of 149 NBS patients registered in the online database of the European Society for Immune Deficiencies were analyzed.Results Of the 149 NBS patients, 91 (61 %), of median age 14.3 years, remained alive at the time of analysis. These patients were clinically heterogeneous, with variable immune defects, ranging from negligible to severe dysfunction. Humoral deficiencies predisposed NBS patients to recurrent/chronic respiratory tract infections and worsened long-term clinical prognosis. Eighty malignancies, most of lymphoid origin (especially non-Hodgkin's lymphomas), were diagnosed in 42 % of patients, with malignancy being the leading cause of death in this cohort. Survival probabilities at 5, 10, 20 and 30 years of age were 95, 85, 50 and 35 %, respectively, and were significantly lower in patients with than without malignancies.Conclusions The extremely high incidence of malignancies, mostly non-Hodgkin's lymphomas, was the main risk factor affecting survival probability in NBS patients. Because treatment of NBS is very difficult and frequently unsuccessful, the search for an alternative medical intervention such as hematopoietic stem cell transplantation is of great clinical importance.
Towards homogenization of total body irradiation practices in pediatric patients across SIOPE affiliated centers. A survey by the SIOPE radiation oncology working group
(Elsevier Ireland Ltd, 2021-02-01) Hoeben, Bianca A. W.; Pazos, Montserrat; Albert, Michael H.; Seravalli, Enrica; Bosman, Mirjam E.; Losert, Christoph; Boterberg, Tom; Manapov, Farkhad; Ospovat, Inna; Milla, Soraya Mico; Abakay, Candan Demiröz; Engellau, Jacob; Kos, Gregor; Supiot, Stephane; Bierings, Marc; Janssens, Geert O.; DEMİRÖZ ABAKAY, CANDAN; Uludağ Üniversitesi/Tıp Fakültesi/Radyasyon Onkolojisi Anabilim Dalı.; 0000-0001-5380-5898 ; AAH-3855-2021
Background and purpose: To reduce relapse risk, Total Body Irradiation (TBI) is part of conditioning regimens for hematopoietic stem cell transplantation (HSCT) in pediatric acute leukemia. The study purpose was to evaluate clinical practices regarding TBI, such as fractionation, organ shielding and delivery techniques, among SIOPE affiliated radiotherapy centers.Methods: An electronic survey was sent out to 233 SIOPE affiliated centers, containing 57 questions about clinical practice of TBI. Surveys could be answered anonymously.Results: From over 25 countries, 82 responses were collected. For TBI-performing centers, 40/48 irradiated <= 10 pediatric patients annually (range: 1-2 to >25). Most indications concerned acute lymphoblastic leukemia (ALL) or acute myeloid leukemia (AML). Four different fractionation schedules were used, of which 12 Gy in 6 fractions was applied in 91% for ALL and 86% for AML. Dose reduction to the lungs, mostly to a mean dose of 8-10 Gy, was applied by 28/33 centers for ALL and 19/21 centers for AML, in contrast to much less applied dose reduction to the kidneys (7/33 ALL and 7/21 AML), thyroid (2/33 ALL and 2/21 AML), liver (4/33 ALL and 3/21 AML) and lenses (4/33 ALL and 4/21 AML). Conventional TBI techniques were used by 24/29 responding centers, while 5/29 used advanced optimized planning techniques.Conclusion: Across SIOPE, there is a high level of uniformity in fractionation and use of lung shielding. Practices vary regarding other organs-at-risk shielding and implementation of advanced techniques. A SIOPE radiotherapy working group will be established to define international guidelines for pediatric TBI. (C) 2020 The Author(s). Published by Elsevier B.V.