New-Onset Monosomy 7-Induced Pancytopenia in a 66-Year-Old Woman.

Autor: Brock JM; Internal Medicine, Unity Health, Searcy, USA., Dillinger C; Internal Medicine, Unity Health, Searcy, USA., Covey D; Internal Medicine, Unity Health, Searcy, USA., Lim JA; Internal Medicine, Unity Health, Searcy, USA., Martin DE; Graduate Medical Education, Unity Health, Searcy, USA.
Jazyk: angličtina
Zdroj: Cureus [Cureus] 2024 Jan 29; Vol. 16 (1), pp. e53159. Date of Electronic Publication: 2024 Jan 29 (Print Publication: 2024).
DOI: 10.7759/cureus.53159
Abstrakt: Myelodysplastic syndrome (MDS) is characterized by failure to initiate hematopoiesis or impaired maturation of cells, often presenting with pancytopenias with or without associated fatigue, infections, or inappropriate bleeding and bruising. Karyotype analyses of MDS patients commonly show deletion of the q arm of chromosome 7, suggesting loss of this region is likely implicated in the insufficient hematopoiesis seen in MDS. The predisposition to deletion of 7q is commonly inherited, with clinical presentation in early childhood associated with pancytopenia or hematological malignancy. In this case, we present a 66-year-old female who was incidentally found to be pancytopenic in the emergency department while being evaluated for dyspnea, with a bone marrow biopsy later confirming a diagnosis of MDS with monosomy 7. Sporadic loss of 7q can occur at any stage in life without any family history of hematological disease. Our patient has no known personal or family history of MDS, with normal blood counts during hospitalization three years prior, suggesting de novo loss of 7q occurring at greater than 60 years of age.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2024, Brock et al.)
Databáze: MEDLINE