Evidence map›Paper›PMID 39391249›Full record

ArticleFrontiers in oncology2024

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

Marta Brunetti, Kristin Andersen, Gunhild Trøen, Francesca Micci, Signe Spetalen, Andrea Lenartova, Maren Randi Tandsæther, Ioannis Panagopoulos

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In one paragraph

Article in Frontiers in oncology, 2024. 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

What it found

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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

8 authors.

Marta BrunettiSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Kristin AndersenSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Gunhild TrøenDepartment of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Francesca MicciSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Signe SpetalenDepartment of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Andrea LenartovaDepartment of Haematology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Maren Randi TandsætherSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Ioannis PanagopoulosSection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 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.

Indexed as

acute myeloid leukemiaarray comparative genomic hybridizationcytogeneticsidic(X)(q13)i(X)(q10)myelodysplastic syndromepathogenic variants

Identifiers

PMID39391249
PMCPMC11464256

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