Article
Hematology
Michael Svaton, Aneta Skotnicova, Leona Reznickova, Andrea Rennerova, Tatana Valova, Michaela Kotrova, Vincent H. J. van der Velden, Monika Brueggemann, Nikos Darzentas, Anton W. Langerak, Jan Zuna, Jan Stary, Jan Trka, Eva Fronkova
Summary: We compared minimal/measurable residual disease (MRD) levels in pediatric B-cell precursor acute lymphoblastic leukemia using qPCR and NGS approaches. The results showed that qPCR and NGS had a concordance rate of 81.9%. NGS provided more specific results and eliminated false-positive qPCR results.
Review
Genetics & Heredity
Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati
Summary: This study reported seven additional patients with 8p23.2-pter microdeletions, confirming the association of this deletion with clinical phenotypes such as cognitive impairment, developmental delay, and behavioral issues. The findings suggest that DLGAP2 may be the strongest candidate gene for neurodevelopmental/behavioral phenotypes associated with 8p23.2-pter microdeletions.
Review
Genetics & Heredity
Jan Kulis, Lukasz Sedek, Lukasz Slota, Bartosz Perkowski, Tomasz Szczepanski
Summary: Immunophenotypic characterization using flow cytometry is a fundamental tool in the diagnosis of acute lymphoblastic leukemia. Specific genetic aberrations underlie different subtypes of B-cell precursor ALL, and their identification is crucial for risk stratification. Diagnostic panels typically include lineage-specific antigens and markers for maturation stages. Some genetic features are associated with the expression of certain antigens, but wider panels and advanced statistical analyses provide more information. Flow cytometry is essential for initial leukemia diagnosis and stratification.
Article
Hematology
Nicholas J. Short, Elias Jabbour, Walid Macaron, Farhad Ravandi, Nitin Jain, Rashmi Kanagal-Shamanna, Keyur P. Patel, Sanam Loghavi, Fadi G. Haddad, Musa Yilmaz, Ghayas C. Issa, Partow Kebriaei, Steven M. Kornblau, Sarah Pelletier, Wilmer Flores, Jairo Matthews, Rebecca Garris, Hagop Kantarjian
Summary: Reverse transcription polymerase chain reaction (RT-PCR) is commonly used for measurable residual disease (MRD) assessment in Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL), but it may not be optimal for all cases. A highly sensitive next-generation sequencing (NGS) MRD assay was evaluated and showed a discordance with RT-PCR in 32% of patients with Ph+ ALL. Patients with long-term detectable BCR::ABL1 by PCR had stable levels and did not relapse, while patients who were PCR+/NGS+ had variable PCR values that responded to therapeutic intervention. NGS-based assessment of MRD is prognostic in Ph+ ALL and identifies patients with low-level detectable BCR::ABL1 who are unlikely to relapse nor to benefit from therapeutic interventions.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Medicine, General & Internal
Mirella Ampatzidou, Stefanos I. Papadhimitriou, Anna Paisiou, Georgios Paterakis, Marianna Tzanoudaki, Vassilios Papadakis, Lina Florentin, Sophia Polychronopoulou
Summary: A Greek cohort study of pediatric ALL demonstrated that the deletion of the CDKN2A/2B gene is associated with poor prognosis, with biallelic deletions showing the worst outcomes. The study findings suggest that CDKN2A/2B deletions can further stratify existing risk groups, identifying patient subgroups with different outcomes.
Article
Oncology
Honghong Zhang, Yang Wan, Hongsheng Wang, Jiaoyang Cai, Jie Yu, Shaoyan Hu, Yongjun Fang, Ju Gao, Hua Jiang, Minghua Yang, Changda Liang, Runming Jin, Xin Tian, Xiuli Ju, Qun Hu, Hui Jiang, Zhifan Li, Ningling Wang, Lirong Sun, Alex W. K. Leung, Xuedong Wu, Xiaowen Qian, Maoxiang Qian, Chi-kong Li, Jun Yang, Jingyan Tang, Xiaofan Zhu, Shuhong Shen, Li Zhang, Ching-Hon Pui, Xiaowen Zhai
Summary: The study aims to identify prognostic factors for improving the outcome of patients with TCF3::PBX1 ALL. The presence of positive MRD and testicular leukemia are indicators for new molecular therapeutics or immunotherapy in these patients.
Article
Oncology
Marcin Braun, Agata Pastorczak, Lukasz Sedek, Joanna Taha, Joanna Madzio, Izabela Jatczak-Pawlik, Kamila Wypyszczak, Michal Matysiak, Katarzyna Derwich, Monika Lejman, Bernarda Kazanowska, Tomasz Szczepanski, Jerzy R. Kowalczyk, Wojciech Mlynarski
Summary: The presence of minimal residual disease (MRD) and specific molecular abnormalities, such as IKZF1 gene aberrations, are strong predictors of outcome in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). A recently-defined IKZF1-plus microdeletion profile can provide additional predictive value for treatment outcome in childhood BCP-ALL and contribute to more efficient patient stratification.
HEMATOLOGICAL ONCOLOGY
(2022)
Article
Oncology
Melissa A. Burns, Andrew E. Place, Kristen E. Stevenson, Alejandro Gutierrez, Suzanne Forrest, Yana Pikman, Lynda M. Vrooman, Marian H. Harris, Sarah K. Hunt, Jane E. O'Brien, Barbara L. Asselin, Uma H. Athale, Luis A. Clavell, Peter D. Cole, Lisa M. Gennarini, Justine M. Kahn, Kara M. Kelly, Caroline Laverdiere, Jean-Marie Leclerc, Bruno Michon, Marshall A. Schorin, Maria Luisa Sulis, Jennifer J. G. Welch, Donna S. Neuberg, Stephen E. Sallan, Lewis B. Silverman
Summary: The study found that pediatric T-ALL patients have a high 5-year event-free survival and overall survival rates. The ETP phenotype may be associated with failure to achieve complete remission, but does not affect overall survival. Low end-induction MRD levels are associated with superior disease-free survival, while pathogenic mutations of the PI3K pathway may be associated with lower 5-year disease-free and overall survival rates in patients.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Automation & Control Systems
Durjoy Majumder
Summary: Acute lymphoblastic leukemia (ALL), a common cancer in children, often relapses. Maintenance chemotherapy is conducted to remove minimal residual disease (MRD) after intensive chemotherapy, but MRD detection sometimes fails due to the mutability behavior of leukemic cells or their aberrant marker expression. Higher drug doses during maintenance phase can remove MRD but may cause drug-related toxicity. This study proposes a control theoretic model using peripheral blood to detect MRD and also provides guidance in optimizing maintenance chemotherapeutic regime for individual ALL patients.
INTERNATIONAL JOURNAL OF MODELLING IDENTIFICATION AND CONTROL
(2023)
Article
Biophysics
Moshe Yeshurun, Uri Rozovski, Liat Shargian, Oren Pasvolsky, Steffie van der Werf, Gloria Tridello, Nina Knelange, Malgorzata Mikulska, Jan Styczynski, Diana Averbuch, Rafael de la Camara
Summary: We conducted a study to describe the infection prevention practices among EBMT centers. Questionnaires were sent to all 553 centers and responses from 127 centers in 32 countries were obtained. The study revealed significant variations in antimicrobial prophylaxis practices, medications employed and duration of preventive therapy among the centers.
BONE MARROW TRANSPLANTATION
(2023)
Article
Oncology
Zuzanna Urbanska, Monika Lejman, Joanna Taha, Joanna Madzio, Kinga Ostrowska, Karolina Miarka-Walczyk, Kamila Wypyszczak, Borys Styka, Justyna Jakubowska, Lukasz Sedek, Tomasz Szczepanski, Marcin Stanczak, Wojciech Fendler, Wojciech Mlynarski, Agata Pastorczak
Summary: We analyzed the pattern of whole-genome copy number alterations (CNAs) and their association with blast clearance kinetics during induction treatment in 195 pediatric patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Three clusters of leukemic samples with distinct blast clearance kinetics were identified, which correlated with clinical features, microdeletion profile, gene fusions, and patient survival. The pattern of CNAs influenced leukemic cell clearance kinetics, and aberrations affecting DNA repair genes may contribute to chemoresistance in BCP-ALL.
Article
Oncology
Malgorzata Czogala, Wojciech Czogala, Katarzyna Pawinska-Wasikowska, Teofila Ksiazek, Karolina Bukowska-Strakova, Barbara Sikorska-Fic, Pawel Laguna, Jolanta Skalska-Sadowska, Jacek Wachowiak, Anna Rodziewicz-Konarska, Malgorzata Moj-Hackemer, Krzysztof Kalwak, Katarzyna Muszynska-Roslan, Maryna Krawczuk-Rybak, Anna Falkowska, Katarzyna Drabko, Marta Kozlowska, Ninela Irga-Jaworska, Katarzyna Bobeff, Wojciech Mlynarski, Renata Tomaszewska, Tomasz Szczepanski, Agnieszka Chodala-Grzywacz, Grazyna Karolczyk, Katarzyna Mycko, Wanda Badowska, Karolina Zielezinska, Tomasz Urasinski, Natalia Bartoszewicz, Jan Styczynski, Walentyna Balwierz, Szymon Skoczen
Summary: The study aimed to identify the clinical characteristics and analyze the outcomes of pediatric AML-pCT. The data of 40 children with AML-pCT treated from 2005 to 2020 were retrospectively analyzed. The most common primary malignancies were acute lymphoblastic leukemia and brain tumors. The treatment outcomes improved significantly in patients treated from 2015-2022 compared to 2005-2014, with increased probabilities of EFS and RFS.
Article
Medicine, Research & Experimental
Kateryna Tarhonska, Beata Janasik, Joanna Roszak, Kornelia Kowalczyk, Monika Lesicka, Edyta Reszka, Edyta Wieczorek, Marcin Braun, Agnieszka Kolacinska-Wow, Jaroslaw Skokowski, Leszek Kalinowski, Ewa Jablonska
Summary: The association between cadmium and the Warburg effect in breast cancer was suggested by an observational study, although not confirmed in vitro. However, cadmium seems to interfere with tamoxifen treatment, which deserves further investigation in terms of its possible implication in intrinsic resistance to hormone therapy.
BIOMEDICINE & PHARMACOTHERAPY
(2023)
Review
Biochemistry & Molecular Biology
Kinga Panuciak, Emilia Nowicka, Angelika Mastalerczyk, Joanna Zawitkowska, Maciej Niedzwiecki, Monika Lejman
Summary: Recent years have seen significant progress in the treatment of B-cell acute lymphoblastic leukemia (ALL), with improved conventional therapy schemes and the development of new treatment forms. The 5-year survival rates now exceed 90% in pediatric patients. However, at the molecular level, there are still many variations that need to be analyzed in more detail, including aneuploidy, which is among the most common genetic changes in B-cell ALL. Our work will focus on summarizing the current state of knowledge on aneuploidy and its correlates with the treatment of B-cell ALL patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Chemistry, Analytical
Adrian Kowalczyk, Julia Zarychta, Monika Lejman, Joanna Zawitkowska
Summary: The incidence and mortality rates of neoplastic diseases have been increasing. According to GLOBOCAN 2020 by IARC, leukemia is the thirteenth most common cancer globally, with a majority of cases occurring in countries with high HDI. Carcinogenesis is initiated by DNA mutations caused by chemical carcinogens in polluted environments and human diets. This review aims to identify the chemical carcinogens involved in leukemia and to summarize the latest reports on detecting these compounds using electrochemical sensors in the environment or food.
Article
Medicine, General & Internal
Anna Dabrowska, Elzbieta Grzesk, Anna Urbanczyk, Marta Mazalon, Grzegorz Grzesk, Jan Styczynski, Sylwia Koltan
Summary: Inborn errors of immunity (IEI) are genetically determined disorders presenting with recurrent infections, autoimmunity, allergies, and malignancies. This study compared the utility of the 10 and 14 warning signs in diagnosing IEI. The results showed that the 14 warning signs are more effective in detecting IEI patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Oncology
Jan Styczynski, Artur Slomka, Monika Lecka, Katarzyna Albrecht, Michal Romiszewski, Monika Pogorzala, Malgorzata Kubicka, Beata Kurylo-Rafinska, Barbara Tejza, Grazyna Gadomska, Ewelina Kolanska-Dams, Malgorzata Michalska, Ewa Zekanowska
Summary: This study analyzed the prognostic impact of 12 serum iron metabolism parameters in children after intensive chemotherapy for acute leukemias (AL) or undergoing hematopoietic cell transplantation (HCT). High levels of ferritin and low levels of soluble hemojuvelin (sHJV) were found to have an adverse prognostic impact on overall survival (OS) and event-free survival (EFS) in children after HCT. The results were confirmed when combined with AL patients after intensive chemotherapy.
Article
Pediatrics
Katarzyna Bobeff, Agata Pastorczak, Zuzanna Urbanska, Walentyna Balwierz, Edyta Juraszewska, Jacek Wachowiak, Katarzyna Derwich, Magdalena Samborska, Krzysztof Kalwak, Iwona Dachowska-Kalwak, Pawel Laguna, Iwona Malinowska, Katarzyna Smalisz, Jolanta Gozdzik, Aleksandra Oszer, Bartosz Urbanski, Maciej Zdunek, Tomasz Szczepanski, Wojciech Mlynarski, Szymon Janczar
Summary: Venetoclax has shown significant clinical activity in relapsed or refractory leukemias in paediatric patients in Poland. Although not currently incorporated into paediatric treatment schedules, it has been used in patients who have failed conventional therapy. This study aims to gather clinical data and correlates of paediatric patients treated with Venetoclax to guide its clinical use and stimulate further research.
Letter
Oncology
Simone Cesaro, Malgorzata Mikulska, Hans H. Hirsch, Jan Styczynski, Sylvain Meylan, Catherine Cordonnier, Davide Navarro, Marie von Lilienfeld-Toal, Varun Mehra, Francesco Marchesi, Caroline Besson, Raul Cordoba Masculano, Gernot Beutel, Herman Einsele, Johan Maertens, Rafael de la Camara, Per Ljungman, Livio Pagano
Article
Oncology
Malgorzata Czogala, Wojciech Czogala, Katarzyna Pawinska-Wasikowska, Teofila Ksiazek, Karolina Bukowska-Strakova, Barbara Sikorska-Fic, Pawel Laguna, Anna Falkowska, Katarzyna Drabko, Katarzyna Muszynska-Roslan, Maryna Krawczuk-Rybak, Marta Kozlowska, Ninela Irga-Jaworska, Karolina Zielezinska, Tomasz Urasinski, Natalia Bartoszewicz, Jan Styczynski, Jolanta Skalska-Sadowska, Jacek Wachowiak, Anna Rodziewicz-Konarska, Krzysztof Kalwak, Malgorzata Ciebiera, Radoslaw Chaber, Agnieszka Mizia-Malarz, Agnieszka Chodala-Grzywacz, Grazyna Karolczyk, Katarzyna Bobeff, Wojciech Mlynarski, Katarzyna Mycko, Wanda Badowska, Renata Tomaszewska, Tomasz Szczepanski, Katarzyna Machnik, Natalia Zamorska, Walentyna Balwierz, Szymon Skoczen
Summary: Mutations in the FLT3 gene are associated with poor outcomes in pediatric AML. A retrospective analysis of a nationwide pediatric AML database showed that FLT3-ITD-positive patients had worse survival compared to FLT3-ITD-negative patients. Treatment protocols and the use of FLT3 inhibitors and stem cell transplantation showed potential for improving outcomes. Additional genetic mutations, such as WT1 and NPM1, significantly influenced prognosis.
Review
Medicine, General & Internal
Marika Kulczycka, Kamila Derlatka, Justyna Tasior, Monika Lejman, Joanna Zawitkowska
Summary: Traditional cancer treatments have limited efficacy, highlighting the importance of innovative methods like CAR T-cell therapy, which has shown remarkable success in treating pediatric hematological malignancies. By modifying the patient's own lymphocytes to recognize and destroy specific tumor cells, CAR-T is a personalized and promising therapy. While its effectiveness in treating solid tumors is still being researched, CAR-T has the potential to significantly improve outcomes for children with limited treatment options.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Szymon Milnerowicz, Julia Maszewska, Paulina Skowera, Magdalena Stelmach, Monika Lejman
Summary: Acute myeloid leukemia (AML) mainly affects elderly patients who are unfit for intensive chemotherapy. Researchers are exploring the combination of venetoclax and FLT3 inhibitors to overcome drug resistance in leukemic cells and improve treatment outcomes. The combination shows a synergistic effect and has the potential to enhance therapeutic approaches for AML.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Piotr Pluta, Agnieszka Giza, Malgorzata Kolenda, Wojciech Fendler, Marcin Braun, Cezary Chudobinski, Justyna Chalubinska-Fendler, Michal Araszkiewicz, Karolina Loga, Lubomir Lembas, Magdalena Witkowska, Agnieszka Pluta, Jerzy Kolasinski, Pawel Basta, Agnieszka Kolacinska-Voytkuv, Slawomir Ciesla, Dorota Jesionek-Kupnicka, Jerzy Jankau, Maciej Kuczynski, Ewa Kalinka, Marek Zadrozny, Dawid Murawa
Summary: This study retrospectively reviewed clinical data of 7 BIA-ALCL patients in Poland, and found that the disease is rare in the Polish population. After capsulectomy with implant removal, the short-term prognosis of the patients remains excellent.
ARCHIVES OF MEDICAL SCIENCE
(2023)
Article
Oncology
Lucjan Slawinski, Julia Maria Solek, Joanna Milkowska-Dymanowska, Dorota Jesionek-Kupnicka, Joanna Gora-Tybor, Damian Mikulski, Marcin Braun
Summary: Primary pulmonary Hodgkin's lymphoma is a rare subtype of lymphoma that presents diagnostic challenges due to its rarity and nonspecific symptoms. This case report highlights a unique case of primary pulmonary Hodgkin's lymphoma mimicking granulomatosis with polyangiitis, emphasizing the difficulties encountered during the diagnostic process. Increased awareness of this subtype and its distinctive features will aid in the diagnosis of similar cases in the future.
WSPOLCZESNA ONKOLOGIA-CONTEMPORARY ONCOLOGY
(2023)
