Dataset Information

Molecular Heterogeneity of Pediatric AML with Atypical Promyelocytes Accumulation in Children-A Single Center Experience.

ABSTRACT: Acute promyelocytic leukemia (APL) pathogenesis is based on RARA gene translocations, which are of high importance in the diagnosis of and proper therapy selection for APL. However, in some cases acute myeloid leukemia (AML) demonstrates APL-like morphological features such as atypical promyelocytes accumulation. This type of AML is characterized by the involvement of other RAR family members or completely different genes. In the present study, we used conventional karyotyping, FISH and high-throughput sequencing in a group of 271 de novo AML with atypical promyelocytes accumulation. Of those, 255 cases were shown to carry a typical chromosomal translocation t(15;17)(q24;q21) with PML::RARA chimeric gene formation (94.1%). Other RARA-positive cases exhibited cryptic PML::RARA fusion without t(15;17)(q24;q21) (1.8%, n = 5) and variant t(5;17)(q35;q21) translocation with NPM1::RARA chimeric gene formation (1.5%, n = 4). However, 7 RARA-negative AMLs with atypical promyelocytes accumulation were also discovered. These cases exhibited TBL1XR1::RARB and KMT2A::SEPT6 fusions as well as mutations, e.g., NPM1 insertion and non-recurrent chromosomal aberrations. Our findings demonstrate the genetic diversity of AML with APL-like morphological features, which is of high importance for successful therapy implementation.

SUBMITTER: Borkovskaia A

PROVIDER: S-EPMC10048084 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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Molecular Heterogeneity of Pediatric AML with Atypical Promyelocytes Accumulation in Children-A Single Center Experience.

Borkovskaia Aleksandra A Bogacheva Sofia S Konyukhova Tatiana T Dadakhanova Elina E Gaskova Marina M Soldatkina Olga O Dubrovina Maria M Popov Alexander A Mikhailova Ekaterina E Inushkina Evgenia E Kazanov Marat M Matveev Evgeniy E Novichkova Galina G Maschan Michael M Maschan Alexey A Olshanskaya Yulia Y Zerkalenkova Elena E

Genes 20230308 3

Acute promyelocytic leukemia (APL) pathogenesis is based on <i>RARA</i> gene translocations, which are of high importance in the diagnosis of and proper therapy selection for APL. However, in some cases acute myeloid leukemia (AML) demonstrates APL-like morphological features such as atypical promyelocytes accumulation. This type of AML is characterized by the involvement of other <i>RAR</i> family members or completely different genes. In the present study, we used conventional karyotyping, FIS ...[more]

PMID: 36980947

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Project description:BackgroundThe Multidisciplinary Tumor Board (MTB) is a collaborative platform involving specialists in oncology, surgery, radiology, pathology, and radiotherapy, and aims to optimize diagnostics and treatments. Despite MTB's widespread benefits, limited literature addresses its application in pediatric neuro-oncology. After a literature revision on pediatric neuro-oncology MTB, our study describes our institute's pediatric neuro-oncology MTB, focuses on evaluating its impact and the neuroradiologist's role in patient-centric approaches, considering recent genetic insights into pediatric brain tumors.Materials and methodsLiterature Review concerning pediatric neuro-oncology MTB from January 2002 to June 2024.Clinical dataretrospective study of all patient files presented in the pediatric neuro-oncology MTB (pnMTB) between 2019 and 2022. Statistical analysis was mainly carried out by directly comparing the absolute or relative values of the respective parameters examined; qualitative variables compared mainly with the chi-square test, quantitative variables mainly with the t-test.ResultsLiterature Review: 7 papers encompass a multidisciplinary approach for the pediatric CNS tumors.Clinical dataA total of 236 discussions were analyzed representing 107 patients. Median age was 14,3 years (range: 6 months - 17 years). The requests for case evaluations primarily came from the pediatric oncologists (83%) and neurosurgeons (14.8%), and they were mainly addressed to the neuroradiologists (70.3%). Proposals during pnMTB mainly involved imaging follow-up (47.8%) and management with chemotherapy (34.7%). Changes in patient treatment (CPT) occurred in 115 cases, and pediatric neuroradiologist intervention contributed to 72.4% of these changes.ConclusionThanks to their multidisciplinarity, high number of cases discussed, and usual respect for their proposals, the pnMTB has made it possible to improve the coordination among specialties involved in patient management, to apply the recent protocols, and to exchange knowledge among teams managing pediatric CNS tumors.

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Dataset Information

Molecular Heterogeneity of Pediatric AML with Atypical Promyelocytes Accumulation in Children-A Single Center Experience.

Publications

Molecular Heterogeneity of Pediatric AML with Atypical Promyelocytes Accumulation in Children-A Single Center Experience.

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