Background. The histogeneses of fibroadenoma and phyllodes tumor of th
e breast appear to be closely related, but it is still unclear whether
fibroadenoma can progress directly to phyllodes tumor. Methods. This
issue was studied by conducting clonal analysis of fibroadenoma and ph
yllodes tumors that were obtained sequentially from the same patient.
One patient developed local recurrence of phyllodes tumor twice, and t
he other two patients each developed a phyllodes tumor after excision
of a primary fibroadenoma. The method for clonal analysis was based on
trinucleotide repeat polymorphism of the X chromosome-linked androgen
receptor (AR) gene and on random inactivation of the gene by methylat
ion. Results. Clonal analysis revealed that all the three primary fibr
oadenomas were monoclonal and all four recurrent phyllodes tumors were
also monoclonal in origin. In addition, the same allele of the AR gen
e was inactivated in fibroadenoma and phyllodes tumor(s) in each patie
nt. The probability that phyllodes tumors of different origin happen t
o inactivate the same allele of the AR gene as fibroadenomas in every
case is quite low. Rather, it is more reasonable to assume that the ph
yllodes tumor has the same origin as fibroadenoma. Conclusions. These
results identified monoclonal fibroadenomas that can progress to phyll
odes tumors.