Publications by authors named "Andrew Charles Perkins"
Article Synopsis
- Myelofibrosis (MF) is a chronic condition causing severe symptoms, particularly fatigue and anemia, which greatly affect patients' quality of life.
- The JAK1/JAK2/activin A receptor type 1 inhibitor momelotinib has shown promising results in clinical trials, significantly improving both anemia and overall MF-related symptoms compared to danazol.
- The phase 3 MOMENTUM trial confirmed these benefits, with patients on momelotinib experiencing faster and lasting symptom relief, particularly in fatigue and physical functioning, as demonstrated by various patient-reported outcome measures.
This case describes a young man with an unusual cause of severe osteoporosis and markedly deranged bone microarchitecture resulting in multiple fractures. A potentially pathogenic germline variant in the runt-related transcription factor 1 (RUNX1) gene was discovered by a focused 51-gene myeloid malignancy panel during investigation for his unexplained normochromic normocytic anemia. Further bone-specific genetic testing and a pedigree analysis were declined by the patient.
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