-related thrombocytopenia is a rare inherited disorder associated with an increased risk of malignancy. While the genetic mutations underlying this condition are well understood, there is limited knowledge regarding its contribution to myeloid neoplasms, such as acute myeloid leukemia (AML). We present a case of -related thrombocytopenia with a variant of uncertain significance in a patient with AML and review the pathogenesis and implications of hereditary germline mutations in disease management.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10101738 | PMC |
| http://dx.doi.org/10.7759/cureus.36152 | DOI Listing |
Publication Analysis
Top Keywords
variant uncertain
8
uncertain significance
8
significance patient
8
acute myeloid
8
myeloid leukemia
8
-related thrombocytopenia
8
ankrd26 gene
4
gene variant
4
patient acute
4
leukemia -related
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!