Part 1: Aplastic Anemia

Gabrielle Meyers, MD

Assistant Professor of Medicine, Center for Hematologic Malignancies, Oregon Health and Science University, Portland, OR.

Question 2

A 29-year-old man presents for evaluation of a possible inherited marrow defect. He has no significant past medical issues but was recently discovered to have a T2N0 squamous cell carcinoma of the left tonsil, for which he underwent segmental phenolization with wide resection and lymph node dissection. Preoperative complete blood count found a WBC of 4200 cells/µL; hemoglobin, 11.4 g/dL; platelet count, 129,000/µL; WBC differential, 62% segmented neutrophils, 33% lymphocytes, 5% monocytes. Chemistries were unremarkable. He is healing nicely from the surgery and had no postoperative complications. Exam is notable for a young man who is small in stature but otherwise well developed, with notable postoperative changes. Skin exam finds no oral leukoplakia, no nail changes, and 3 café-au-lait spots on his back and abdomen. His exam is otherwise unremarkable.

What diagnostic testing should be performed for this patient?

  •  DKC1 mutation analysis
  •  Telomere length testing
  •  Mitomycin C blood breakage study
  •  RPS19 mutation analysis

Updated 3/28/2011 • jdw | Copyright ©2014 Turner White Communications