Evidence map›Paper›PMID 42467363›Full record

ArticleMedScience2026

Novel KMT2A fusion partner genes in acute leukemia-MRTFB, SORBS1, and SSC5D.

Elena Zerkalenkova, Polina Gezik, Karina Iliasova, Medina Gurzhikhanova, Ruslan Abasov, Olga Soldatkina, Anna Kazakova, Yulia Olshanskaya, A M Popov, Irina Kalinina and 8 more

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Article in MedScience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

18 authors.

Elena ZerkalenkovaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
Polina GezikDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia. polina.gezik@gmail.com.
Karina IliasovaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
Medina GurzhikhanovaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
Ruslan AbasovDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
Olga SoldatkinaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
Anna KazakovaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
Yulia OlshanskayaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
A M PopovDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
Irina KalininaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
Alexandr MaschanDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
Andrey SudarikovNational Research Center for Hematology of Ministry of Healthcare Service Russian Federation, Moscow, 125167, Russia.
Tatiana ObukhovaNational Research Center for Hematology of Ministry of Healthcare Service Russian Federation, Moscow, 125167, Russia.
Anastasia KashlakovaNational Research Center for Hematology of Ministry of Healthcare Service Russian Federation, Moscow, 125167, Russia.
Zalina FidarovaNational Research Center for Hematology of Ministry of Healthcare Service Russian Federation, Moscow, 125167, Russia.
Elena ParovichnikovaNational Research Center for Hematology of Ministry of Healthcare Service Russian Federation, Moscow, 125167, Russia.
Galina NovichkovaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.
Michael MaschanDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117997, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

KMT2A (formerly MLL) gene rearrangements are common and clinically significant in acute leukemias, with outcomes influenced by the fusion partner. Over 100 fusion partners are known, but new ones continue to emerge. This study identified three novel partners-myocardin-related transcription factor B (MRTFB), sorbin and SH3 domain-containing 1 (SORBS1), and scavenger receptor cysteine-rich family member with 5 domains (SSC5D)-in pediatric and adult acute leukemia cases. Three cases were analyzed: a boy with B-cell precursor acute lymphoblastic leukemia, a girl with acute myelomonocytic leukemia, and a woman with therapy-related acute myeloid leukemia (AML). Diagnostics included cytogenetic analysis, fluorescence in situ hybridization (FISH), multiplex reverse transcription-polymerase chain reaction (RT-PCR), whole genome sequencing (WGS), and confirmation of breakpoints by Sanger sequencing, with validation at DNA and RNA levels, using patient-specific primers. WGS identified three novel in-frame fusions: KMT2A::MRTFB, KMT2A::SORBS1, and KMT2A::SSC5D, all within the major KMT2A breakpoint region. All patients achieved complete remission with tailored therapy, including chemotherapy and hematopoietic stem cell transplantation where indicated. Follow-up demonstrated durable remissions ranging from 9 to 23 months at the time of reporting. This study expands the catalog of KMT2A fusion partners, highlighting MRTFB, SORBS1, and SSC5D as novel leukemia-associated genes. The findings underscore the value of WGS for comprehensive detection of rare genetic events, enabling improved molecular classification and prognostic assessment in KMT2A-rearranged leukemias.

Indexed as

acute leukemiacytogeneticsfusion genesKMT2AWGS

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.