Formation of the 12q14-q15 amplicon precedes the development of a well-differentiated liposarcoma arising from a nonchondroid pulmonary hamartoma.
Pulmonary hamartoma is a benign neoplasm that rarely recurs or undergoes malignant transformation. Herein, we report a 48-year-old woman with a history of an incomplete excised nonchondroid pulmonary hamartoma presenting as an indolent tumor recurrence. Excision of the tumor revealed a well-differentiated liposarcoma arising from the hamartomatous component. Fluorescence in situ hybridation analysis for HMGA2 and MDM2 was performed on both hamartomatous and liposarcomatous component. MDM2 and HMGA2 amplification were found in a subset of stromal cells in the hamartomatous component and in most cells of the well-differentiated liposarcoma. No rearrangement HMGA2 was found in the pulmonary hamartoma component. These findings suggest that the formation of the 12q14-q15 chromosome amplicon, the characteristic cytogenetic finding of well-differentiated liposarcomas and the structural genomic component of the supernumerary ring and giant rod chromosomes, occurred before the morphologic changes characteristic of these malignant adipose tissue tumors and likely represents a very early molecular event in their development.
Trahan
Sylvain
S
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Erickson-Johnson
Michele R
MR
Rodriguez
Fausto
F
Aubry
Marie-Christine
MC
Cheville
John C
JC
Myers
Jeffrey L
JL
Oliveira
Andre M
AM
D002881:Chromosomes, Human, Pair 12; D005260:Female; D005784:Gene Amplification; D005819:Genetic Markers; D025743:HMGA2 Protein / Q000235:genetics; D006222:Hamartoma / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008080:Liposarcoma / Q000209:etiology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008175:Lung Neoplasms / Q000209:etiology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008875:Middle Aged; D051736:Proto-Oncogene Proteins c-mdm2 / Q000235:genetics
D005819:Genetic Markers; D025743:HMGA2 Protein; C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2