Malignant transformation of congenital hypertrophy of the retinal pigment epithelium.
OBJECTIVE
To report a clinicopathologic correlation of an adenocarcinoma that arose from solitary congenital hypertrophy of the retinal pigment epithelium (CHRPE).


METHODS
Case report with clinicopathologic correlation.


METHODS
A 56-year-old black woman was referred for an asymptomatic fundus lesion in her left eye. It had features typical of CHRPE, but there was a small elevated nodule within the flat component, and the diagnosis was adenoma of the retinal pigment epithelium (RPE) arising from CHRPE. The lesion was observed periodically. The nodule slowly enlarged, and increasing amounts of lipoproteinaceous exudation accumulated in the adjacent retina. Thirteen years after the initial diagnosis, the patient returned with severe visual loss and no view of the fundus resulting from cataract and posterior synechia. Ultrasonography revealed a total retinal detachment and a pedunculated tumor measuring 7.5 mm in thickness. The eye was enucleated and studied histopathologically.


METHODS
Clinical evaluation and correlation of clinical findings with histopathologic results of the enucleated eye.


RESULTS
Histopathologically, the mass was composed of a proliferation of atypical RPE cells with a marked infiltration of benign plasma cells. Typical features of CHRPE were present at the base of the tumor. The final diagnosis was adenocarcinoma arising from CHRPE.


CONCLUSIONS
Congenital hypertrophy of the retinal pigment epithelium, once considered to be a benign and stationary lesion, may spawn a malignant neoplasm.
Shields
Jerry A
JA
Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA. jerryshields@comcast.net
Eagle
Ralph C
RC
Shields
Carol L
CL
Brown
Gary C
GC
Lally
Sara E
SE
D000230:Adenocarcinoma / Q000000981:diagnostic imaging / Q000473:pathology*; D002471:Cell Transformation, Neoplastic / Q000473:pathology*; D015353:Eye Enucleation; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000151:congenital; D008875:Middle Aged; D012163:Retinal Detachment / Q000000981:diagnostic imaging / Q000473:pathology; D019572:Retinal Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology*; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D014463:Ultrasonography