title: Primary digestive melanoma in association with tubular adenoma: a case report illustrating the distinction from metastatic colonic melanoma.
abstract: We report here an exceptional pattern of atypical lentiginous melanocytic proliferation within an adenoma, leading to focal lamina propria infiltration and pulmonary metastasis, which was considered as primary colonic mucosal melanoma (MM) in a Caucasian patient. Such case illustrates the diagnosis criteria required to differentiate primary MM from colonic metastasis of melanoma, including the absence of past history of other primary melanoma, a unique colonic and abdominal lesion with predominant features of in situ lentiginous MM and a very focal and unique invasive area without other digestive tract or abdominal localization. This tumor displayed a KIT exon 11 mutation leading to a unique combination of p.I571M and p.D572G deleterious amino acid changes. Such pattern also favors the diagnosis as KIT appears as a master oncogenic player in MM oncogenesis.
authors.affiliation: Cancer Biobank and Tumor Biology Laboratory, Centre Hospitalier Universitaire de Bordeaux, Pessac, 33604, France.
authors.forename: Adeline
authors.initials: A
authors.lastname: Furudoï
authors.affiliation: Cancer Biobank and Tumor Biology Laboratory, Centre Hospitalier Universitaire de Bordeaux, Pessac, 33604, France; EA2406, Histology and Molecular Pathology of Tumors, University of Bordeaux, Bordeaux, 33076, France.
authors.forename: Charline
authors.initials: C
authors.lastname: Caumont
authors.affiliation: Department of Dermatology, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, 33000, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Dutriaux
authors.affiliation: Cancer Biobank and Tumor Biology Laboratory, Centre Hospitalier Universitaire de Bordeaux, Pessac, 33604, France; EA2406, Histology and Molecular Pathology of Tumors, University of Bordeaux, Bordeaux, 33076, France.
authors.forename: David
authors.initials: D
authors.lastname: Cappellen
authors.affiliation: Department of Pathology, Centre Hospitalier Universitaire de Bordeaux, Pessac 33604, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Goussot
authors.affiliation: EA2406, Histology and Molecular Pathology of Tumors, University of Bordeaux, Bordeaux, 33076, France; Department of Pathology, Centre Hospitalier Universitaire de Bordeaux, Pessac 33604, France.
authors.forename: Béatrice
authors.initials: B
authors.lastname: Vergier
authors.affiliation: Pathology Laboratory, Talence, 33400, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Merlio
authors.affiliation: Gastroenterology Department, Maison de Santé Bagatelle, Talence, 33400, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Barberis
authors.affiliation: Cancer Biobank and Tumor Biology Laboratory, Centre Hospitalier Universitaire de Bordeaux, Pessac, 33604, France; EA2406, Histology and Molecular Pathology of Tumors, University of Bordeaux, Bordeaux, 33076, France. Electronic address: jp.merlio@u-bordeaux.fr.
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Merlio
authors.affiliation: Cancer Biobank and Tumor Biology Laboratory, Centre Hospitalier Universitaire de Bordeaux, Pessac, 33604, France; EA2406, Histology and Molecular Pathology of Tumors, University of Bordeaux, Bordeaux, 33076, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Gros
mesh_terms: D000236:Adenoma / Q000473:pathology*; D000368:Aged; D003110:Colonic Neoplasms / Q000473:pathology*; D015897:Comorbidity; D006801:Humans; D008297:Male; D008545:Melanoma / Q000473:pathology*; D009378:Neoplasms, Multiple Primary / Q000473:pathology*; D016609:Neoplasms, Second Primary / Q000473:pathology; D001749:Urinary Bladder Neoplasms / Q000453:epidemiology
keywords: Colon cancer; Digestive melanoma; KIT mutation; Melanoma; Metastasis