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ORIGINAL RESEARCH article

Front. Oncol.
Sec. Cancer Genetics
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1428984

Molecular genetic characterization of myeloid neoplasms with idic(X)(q13) and i(X)(q10)

Provisionally accepted
Marta Brunetti Marta Brunetti 1*Kristin Andersen Kristin Andersen 1Gunhild Trøen Gunhild Trøen 2Francesca Micci Francesca Micci 1Signe Spetalen Signe Spetalen 3,4Andrea Lenartova Andrea Lenartova 5Maren R. Tandsæther Maren R. Tandsæther 6Ioannis Panagopoulos Ioannis Panagopoulos 6
  • 1 Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
  • 2 Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
  • 3 Department of Pathology, The Norwegian Radium Hospital, Oslo, Norway
  • 4 Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway
  • 5 Department of Haematology, The Norwegian Radium Hospital, Oslo, Oslo, Norway
  • 6 Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo, Norway

The final, formatted version of the article will be published soon.

    Background/Aim: Isodicentric [idic(X)(q13)] and isochromosome [i(X)(q10)] are infrequent aberrations in neoplastic diseases. The former is mainly reported in elderly women with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), whereas the latter is mostly found as a secondary aberration or part of complex karyotypes in various types of neoplasms, including MDS and AML. Here, we present the molecular genetics and clinical features of six patients with myeloid neoplasia and the above-mentioned aberrations. Patients and Methods: Array comparative genome hybridization (aCGH) and next-generation sequencing (NGS) myeloid panel were used to examine genetic alterations in five bone marrow samples containing neoplastic cells carrying idic(X)(q13) and one sample with i(X)(q10). Results: The breakpoints of idic(X)(q13) were clustered within a 200 kbp region encompassing FAM236B, DMRTC1B, and DMRTC1. The breakpoint of i(X)(q10) was identified within a 112 kbp region on sub-band p11.22 containing SSX2, SSX2B, and SPANXN5. Pathogenic variants of TET2 were identified in four cases, SF3B1 in three cases, ASXL1 and SRSF2 in two cases each, whereas STAG2, RUNX1, U2AF1, and TP53 pathogenic variants were detected in only single cases. Conclusions: The breakpoints of idic(X)(q13) are within a 200kbp. i(X)(q10) in our study turned out to be a cryptic idic(X)(p11) aberration, reported for the first time here. TET2, SF3B1, ASXL1, or SRSF2 were highly prevalent in patients with idic(X)(q13)/i(X)(q10) abnormalities and were often associated with a worse prognosis.

    Keywords: Acute Myeloid Leukemia, myelodysplastic syndrome, Cytogenetics, idic(X)(q13), I(X)(q10), Array comparative genomic hybridization, Pathogenic variants

    Received: 07 May 2024; Accepted: 09 Sep 2024.

    Copyright: © 2024 Brunetti, Andersen, Trøen, Micci, Spetalen, Lenartova, Tandsæther and Panagopoulos. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Marta Brunetti, Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway

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