{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T13:33:37Z","timestamp":1776692017841,"version":"3.51.2"},"reference-count":74,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T00:00:00Z","timestamp":1678233600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"\u201cNauka\u2014detiam\u201d charity foundation","award":["17-29-06052"],"award-info":[{"award-number":["17-29-06052"]}]},{"name":"Russian Foundation for Basic Research","award":["17-29-06052"],"award-info":[{"award-number":["17-29-06052"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/genes14030675","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T02:33:16Z","timestamp":1678329196000},"page":"675","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Molecular Heterogeneity of Pediatric AML with Atypical Promyelocytes Accumulation in Children\u2014A Single Center Experience"],"prefix":"10.3390","volume":"14","author":[{"given":"Aleksandra","family":"Borkovskaia","sequence":"first","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Bogacheva","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana","family":"Konyukhova","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elina","family":"Dadakhanova","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, 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Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2314-5507","authenticated-orcid":false,"given":"Marat","family":"Kazanov","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, Russia"},{"name":"Institute for Information Transmission Problems (the Kharkevich Institute, RAS), Bolshoy Karetny per. 19, bld. 1, 127051 Moscow, Russia"},{"name":"Skolkovo Institute of Science and Technology, Bolshoy Boulevard 30, bld. 1, 121205 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evgeniy","family":"Matveev","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, Russia"},{"name":"Institute for Information Transmission Problems (the Kharkevich Institute, RAS), Bolshoy Karetny per. 19, bld. 1, 127051 Moscow, Russia"},{"name":"Skolkovo Institute of Science and Technology, Bolshoy Boulevard 30, bld. 1, 121205 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Galina","family":"Novichkova","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Maschan","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexey","family":"Maschan","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulia","family":"Olshanskaya","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9634-5828","authenticated-orcid":false,"given":"Elena","family":"Zerkalenkova","sequence":"additional","affiliation":[{"name":"Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str. 1, 117998 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"871590","DOI":"10.3389\/fonc.2022.871590","article-title":"Atypical Rearrangements in APL-Like Acute Myeloid Leukemias: 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