Fine-needle aspiration cytologic diagnosis of metastatic melanotic schwannoma: familial case of a mother and daughter with Carney's complex and literature review.
Carney's complex is an autosomal dominant, multisystem tumorous disorder that includes myxomas, spotty skin pigmentation, endocrine tumors, and peripheral nerve tumors. Psammomatous melanotic schwannomas have recently been included as a part of this complex. Here, we describe the first known familial case of a mother and daughter, both presenting with malignant, already metastatic, pigmented schwannomas initially diagnosed as metastatic melanoma by CT guided fine-needle aspiration. Patients with highly pigmented, extra-cutaneous lesions that are clinically and pathologically suspicious for metastatic malignant melanoma, without known primary tumor, should be evaluated for possible Carney's complex. Additional screening of family members should be recommended to exclude the presence of potentially malignant neoplasms, such as psammomatous melanotic schwannomas.
Mosunjac
Marina B
MB
Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Grady Memorial Hospital, Atlanta, Georgia 30303, USA. mmosunj@emory.edu
Johnston
Elizabeth I
EI
Mosunjac
Mario I
MI
D000328:Adult; D044963:Biopsy, Fine-Needle; D003937:Diagnosis, Differential; D005260:Female; D006338:Heart Neoplasms / Q000235:genetics / Q000473:pathology; D006801:Humans; D008543:Melanins / Q000378:metabolism*; D008545:Melanoma / Q000175:diagnosis; D008875:Middle Aged; D009232:Myxoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009442:Neurilemmoma / Q000175:diagnosis* / Q000235:genetics / Q000556:secondary; D018329:Nevus, Blue / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013577:Syndrome
D008543:Melanins