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A 2 1 -year-old man is seen in the hematology clinic For evaluation of pancytopenia. The onset was noted at age 1 2 . and the course has been progressive. Current leukocyte count is 2.1 00/ JLL. hemoglobin 8.LJ g/dl with MCV 98 FL. and platelet count 29.000/ JLL. Reticulocyte percen tage is decreased at 1 .2% of red blood cel ls. On physical exam. he is noted to have short stature and multiple cafe-au-lait spots. While shaki ng his hand. you note that he has no thumb. The peri pheral blood smear and bone marrow biopsy are shown below.
What type of malignancy is NOT commonly associated with FA?
- Myelodysplastic syndrome (MDS)
- Acute lymphocytic leukemia (ALL)
- Acute myeloid leukemia (AML)
- Squamous cell cancer of the head and neck (SCCHN)
Medicine
B. AML, MDS, and SCCHN are all associated with FA; the incidence of hematologic ma-lignancy is 33% and the incidence of nonhematologic malignancy is 28% by age 40. The cases of AML are usually M1-M4 FAB subtype and do not have any characteristic molecular abnormality. Of note, patients with AML cannot be treated with standard doses of alkylating agents; they have marked in-creased toxicity with such agents. Likewise, stem cell transplantation in these patients is associated with many challenges. Bone marrow failure is a common cause of death and occurs in up to 90% ofF A patients by age 40 (Hem One Cl N Am. 2009;23:193-214).
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