An 80+ year old woman presents with a complaint of a large skin lesion on her left hand. She reports that this has been present for months. Upon exam, the nodule is quite large, erythematous, tender, and has hyperkeratotic scale.
A biopsy was taken.
What pathway derangements are often found in this neoplasm?
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Patched 1 gene (PTCH1)
The neoplasm has a somewhat basaloid appearance with a degree of peripheral palisading and a mucinous stroma. Small areas of minimal retraction artifact between the neoplasm and investing stroma are noted. The positive immunostaining for BerEp4 additionally supports the diagnosis of basal cell carcinoma (and militates against the diagnosis of squamous cell carcinoma with a somewhat basaloid appearance).
CASE SUMMARY & FOLLOW-UP
Patched 1 gene mutations are commonly found in Gorlin syndrome, but have also been implicated in sporadic basal cell carcinomas. The patient has been referred to the surgical oncologist at the local university. At the time of last communication, the care team there was considering an amputation as the patient has very limited use of her left hand.
By: Dr. Betsy Wernli, MD, Dr. Thomas Bender III, MD and Dr. Doug Hansen, MD