Extra copy of 20q deletion, acute myelomonocytic leukemia (M4) and Niemann-Pick disease.
A 59-year-old hypertensive white male was diagnosed with acute myelogenous leukemia (AML), M4. A bone marrow aspirate showed a karyotype of 46,XY,del(20)(q11.2q13.3)[12]/ 47,XY,del(20)(q11.2q13.3)x2[8]. The majority of cases with 20q deletion are associated with myeloid disorders; however, an extra copy of the 20q deletion has rarely been reported. The patient expired seven days after admission to the hospital. At autopsy hepatosplenomegaly was present. Many foamy macrophages with bubbling cytoplasm in the spleen, liver, bone marrow and lymph nodes were suggestive of Niemann-Pick disease, type E. AML has not previously been reported with Niemann-Pick disease.
Wonsettler
Dana M
DM
Department of Pathology, West Virginia University, P. O. Box 9203, Morgantown, WV 26506-9203, USA.
Chang
William W L
WW
Wenger
Sharon L
SL