Publications by authors named "A Dolnik"

Article Synopsis
  • Chromosomal instability contributes significantly to the diversity within tumors, making it a key factor in tumor growth, particularly in complex karyotype acute myeloid leukemia (CK-AML).
  • The study revealed various structural variants, including unique patterns of clonal evolution in CK-AML, with a noteworthy 75% of cases exhibiting multiple subclones that continue to evolve.
  • By using patient-derived models, researchers identified potential therapies targeting leukemic stem cells, highlighting the importance of genetic changes and cell adaptability in disease progression.
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Article Synopsis
  • * Research on pediatric CML revealed that about 60% of young patients have germline variants, primarily in genes like ASXL1, NOTCH1, KDM6B, and TET2, while adult patients show fewer such variants.
  • * This study suggests that these germline variants may work together with the BCR::ABL1 oncogene to increase the risk of developing CML in children, potentially triggering the disease at an earlier age.
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Article Synopsis
  • Acute myeloid leukemia (AML) often involves deletions of chromosome 7, which are linked to poor patient outcomes, but the full impact of other genetic changes related to this is not well understood.
  • Researchers analyzed genetic alterations in 519 AML patients, using whole-exome sequencing and a specialized gene panel, finding that mutations in TP53, which occurred in 33% of cases, were among the most common.
  • The study identified specific genes, like TP53 and PTPN11, that have a significant negative effect on overall and relapse-free survival, highlighting the complex relationship between chromosome 7 abnormalities and patient prognosis in AML.
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Acute myeloid leukemia (AML) with the t(7;12)(q36;p13) translocation occurs only in very young children and has a poor clinical outcome. The expected oncofusion between break point partners (motor neuron and pancreas homeobox 1 [MNX1] and ETS variant transcription factor 6 [ETV6]) has only been reported in a subset of cases. However, a universal feature is the strong transcript and protein expression of MNX1, a homeobox transcription factor that is normally not expressed in hematopoietic cells.

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Multiple myeloma (MM) is a plasma cell malignancy of the bone marrow. Despite therapeutic advances, MM remains incurable, and better risk stratification as well as new therapies are therefore highly needed. The proteome of MM has not been systematically assessed before and holds the potential to uncover insight into disease biology and improved prognostication in addition to genetic and transcriptomic studies.

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