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2016 ; 74
(3
): 411-20; quiz 421-2
Nephropedia Template TP
gab.com Text
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English Wikipedia
Hereditary melanoma: Update on syndromes and management: Emerging melanoma cancer
complexes and genetic counseling
#MMPMID26892651
Soura E
; Eliades PJ
; Shannon K
; Stratigos AJ
; Tsao H
J Am Acad Dermatol
2016[Mar]; 74
(3
): 411-20; quiz 421-2
PMID26892651
show ga
Recent advances in cancer genomics have enabled the discovery of many
cancer-predisposing genes that are being used to classify new familial
melanoma/cancer syndromes. In addition to CDKN2A and CDK4, germline variants in
TERT, MITF, and BAP1 have been added to the list of genes harboring
melanoma-predisposing mutations. These newer entities may have escaped earlier
description in part because of more advanced technologies now being used and in
part because of their mixed cancer phenotype as opposed to a melanoma-focused
syndrome. Dermatologists should be aware of (and be able to recognize) the
clinical signs in high-risk patients in different contexts. Personal and family
histories of cancer should always be sought in patients with multiple nevi or a
positive history for melanoma, and should be updated annually. Various features
that are unique to specific disorders, such as the appearance of melanocytic
BAP1-mutated atypical intradermal tumors in cases of BAP1 melanoma syndrome,
should also be recognized early. These patients should be offered regular
screenings with the use of dermoscopy and total body photography, as needed. More
importantly, referral to other specialists may be needed if a risk for internal
malignancy is suspected. It is important to have in mind that these patients tend
to develop multiple melanomas, along with various internal organ malignancies,
often at younger ages; a multidisciplinary approach to their cancer screening and
treatment is ideal.