A 42-year-old woman presents for evaluation of swallowing difficulties. She reports that over the past 8 to 9 months she has had progressive difficulty swallowing food and pills, with food “getting stuck” in the center of her chest. She has lost weight, about 15% of her body weight, over the past year, but has no fevers or night sweats. Review of systems is notable for more frequent nose bleeding. She went into menopause 2 years ago.

Family history is notable for her mother dying from myelodysplastic syndrome (MDS) at age 58 years, a maternal aunt and cousin with lung disease, and her maternal grandfather dying from cirrhosis of the liver.

Complete blood count (CBC) is notable for a white blood cell (WBC) count of 2200/µL with a differential including 34% neutrophils, 62% lymphocytes, and 4% monocytes. Hemoglobin is 9.4 g/dL, and platelet count is 43 × 10³/µL. Blood chemistry results are normal except for a mildly elevated alkaline phosphatase concentration.

The patient is referred to gastroenterology, and viral testing and a bone marrow biopsy with karyotype, fluorescence in situ hybridization (FISH) MDS/acute myeloid leukemia (AML) panel, and molecular testing are ordered.