Expression of the tyrosine kinase receptor RET has previously been det
ected in normal hematopoietic cells, and especially in cells of the my
eloid lineage. Furthermore, RET was shown to be differentially express
ed in acute myeloid leukemia (AML), a disease characterized by excessi
ve cell growth and aberrant maturation of cells, with the highest leve
ls of expression in leukemias with monocytic differentiation. RET is k
nown to be expressed in cells from the excretory system and from the d
eveloping central and peripheral nervous system. Both activating and i
nactivating aberrations in the RET gene have been detected in disorder
s derived from these tissues. To investigate whether the differential
expression is a primary defect in AML, the presence of RET alterations
was scanned by Southern blot analysis on DNA of blasts obtained from
17 AML patients. However, no RET gene aberrations were found. Subseque
ntly, denaturing gradient gel electrophoresis (DGGE) analysis was perf
ormed on the DNA. of blasts from ten selected cases. All five variants
detected turned out to represent neutral DNA polymorphisms, including
a novel polymorphism in exon 14. Since we were unable to detect mutat
ions of RET in AML, it is unlikely that it plays an important role in
leukemogenesis.