The kinetics of blast clearance are associated with copy number alterations in childhood B-cell acute lymphoblastic leukemia

Urbanska, Zuzanna; Lejman, Monika; Taha, Joanna; Madzio, Joanna; Ostrowska, Kinga; Miarka-Walczyk, Karolina; Wypyszczak, Kamila; Styka, Borys; Jakubowska, Justyna; Sędek, Łukasz; Szczepański, Tomasz; Stańczak, Marcin; Fendler, Wojciech; Młynarski, Wojciech; Pastorczak, Agata

doi:10.1016/j.neo.2022.100840

Cited by 6 publications

(6 citation statements)

References 41 publications

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“…For the independent datasets used for machine learning model validations, we used 174 whole transcriptome cases from Chouvarine et al., and 503 targeted RNA-seq cases from Urbanska et al. 17 , 18 …”

Section: Methodsmentioning

confidence: 99%

An artificial intelligence-assisted clinical framework to facilitate diagnostics and translational discovery in hematologic neoplasia

Tang,

Antić,

Fardzadeh

et al. 2024

eBioMedicine

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Section: Methodsmentioning

confidence: 99%

An artificial intelligence-assisted clinical framework to facilitate diagnostics and translational discovery in hematologic neoplasia

Tang,

Antić,

Fardzadeh

et al. 2024

eBioMedicine

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“…Copy number variation analysis was performed using a CytoScan HD array (Applied Biosystems, Thermo Fisher Scientific, Waltham, MA) and Chromosome Analysis Suite v 4.2 software (ChAS, Thermo Fisher Scientific, Waltham, MA) as described previously [ 36 ]. The experimental data were analysed in two categories: genome-wide CNAs; 5 Mbp and leukaemia-associated region/gene-specific CNAs (leukaemia genes_all_20150505; Fullerton Overlap Map_hg19).…”

Section: Methodsmentioning

confidence: 99%

Venetoclax Use in Paediatric Haemato-Oncology Centres in Poland: A 2022 Survey

et al. 2023

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Venetoclax, the best established BH3 mimetic, is a practice-changing proapoptotic drug to treat blood cancers in adults. In paediatrics, the data are less but exciting results were recently presented in relapsed or refractory leukaemias demonstrating significant clinical activity. Importantly, the interventions could be potentially molecularly guided as vulnerabilities to BH3 mimetics were reported. Currently, venetoclax is not incorporated into paediatric treatment schedules in Poland but it has been already used in patients that failed conventional therapy in Polish paediatric haemato-oncology departments. The aim of the study was to gather clinical data and correlates of all paediatric patients treated thus far with venetoclax in Poland. We set out to gather this data to help choose the right clinical context for the drug and stimulate further research. The questionnaire regarding the use of venetoclax was sent to all 18 Polish paediatric haemato-oncology centres. The data of November 2022 were gathered and analysed for the diagnoses, triggers for the intervention, treatment schedules, outcomes and molecular associations. We received response from 11 centres, 5 of which administered venetoclax to their patients. Clinical benefit, in most cases consistent with haematologic complete remission (CR), was reported in five patients out of ten, whereas five patients did not show clinical benefit from the intervention. Importantly, patients with CR included subtypes expected to show venetoclax vulnerability, such as poor-prognosis ALL with TCF::HLF fusion. We believe that BH3 mimetics have clinical activity in children and should be available to paediatric haemato-oncology practitioners in well-selected applications.

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“…Since each of the proband’s parent carries one heterozygous ATM variant we could confirm that the ATM defects are biallelic in the patient. Methods are described in the Supplementary Material S1 section [ 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 ].…”

Section: Case Presentationmentioning

confidence: 99%

Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene

Czarny

Andrzejewska

Zając‐Spychała

et al. 2023

IJMS

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Ataxia-telangiectasia (AT) is a multisystemic neurodegenerative inborn error of immunity (IEI) characterized by DNA repair defect, chromosomal instability, and hypersensitivity to ionizing radiation. Impaired DNA double-strand break repair determines a high risk of developing hematological malignancies, especially lymphoproliferative diseases. Poor response to treatment, excessive chemotherapy toxicities, and the need for avoiding exposure to ionizing radiation make the successful clinical management of patients with AT challenging for oncologists. We describe the favorable outcome of the LBCL with IRF4 rearrangement at stage III in a 7-year-old female patient diagnosed with AT. The patient was treated according to the B-HR arm of the INTER-B-NHL-COP 2010 protocol, including the administration of rituximab, cyclophosphamide, methotrexate, prednisone, etc. She presented excessive treatment toxicities despite individually reduced doses of methotrexate and cyclophosphamide. However, in the MRI there was no significant reduction in pathologic lymph nodes after three immunochemotherapy courses. Therefore, a lymph node biopsy was taken. Its subsequent histopathological examination revealed tuberculosis-like changes, though tuberculosis suspicion was excluded. After two following immunochemotherapy courses, PET-CT confirmed complete remission. From March 2022 onwards, the patient has remained in remission under the care of the outpatient children’s oncology clinic.

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The kinetics of blast clearance are associated with copy number alterations in childhood B-cell acute lymphoblastic leukemia

Cited by 6 publications

References 41 publications

An artificial intelligence-assisted clinical framework to facilitate diagnostics and translational discovery in hematologic neoplasia

An artificial intelligence-assisted clinical framework to facilitate diagnostics and translational discovery in hematologic neoplasia

Venetoclax Use in Paediatric Haemato-Oncology Centres in Poland: A 2022 Survey

Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene

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