Primary digestive melanoma in association with tubular adenoma: a case report illustrating the distinction from metastatic colonic melanoma.

Published on Feb 1, 2016in Human Pathology2.735
· DOI :10.1016/J.HUMPATH.2015.09.025
Adeline Furudoï2
Estimated H-index: 2
Charline Caumont5
Estimated H-index: 5
(University of Bordeaux)
+ 7 AuthorsAudrey Gros9
Estimated H-index: 9
(University of Bordeaux)
Summary 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.
#1R. Ballester Sánchez (IPN: Instituto Politécnico Nacional)H-Index: 4
#2B. de Unamuno Bustos (IPN: Instituto Politécnico Nacional)H-Index: 3
Last. R. Botella Estrada (IPN: Instituto Politécnico Nacional)H-Index: 2
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Resumen El melanoma mucoso es un subtipo infrecuente de melanoma que difiere del melanoma cutaneo en su biologia, clinica y manejo. El diagnostico suele realizarse de forma tardia debido a su localizacion en zonas de dificil acceso a la exploracion fisica y a la falta de signos especificos y tempranos. La cirugia es el tratamiento de eleccion en caso de enfermedad localizada. El papel de la biopsia selectiva de ganglio centinela y de la linfadenectomia permanece todavia incierta. La radioterapia...
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#1R. Ballester Sánchez (IPN: Instituto Politécnico Nacional)H-Index: 4
#2B. de Unamuno Bustos (IPN: Instituto Politécnico Nacional)H-Index: 3
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view all 4 authors...
Mucosal melanoma is a rare melanoma subtype that differs from the cutaneous form of the tumor in its biology, clinical manifestations, and management. Diagnosis is usually late due to a lack of early or specific signs and the location of lesions in areas that are difficult to access on physical examination. Surgical excision is the treatment of choice for localized disease. The value of sentinel lymph node biopsy and lymphadenectomy is still unclear. Radio- therapy can be used as adjuvant therap...
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#1Raffaella Santi (UniFI: University of Florence)H-Index: 16
#2Lisa Simi (UniFI: University of Florence)H-Index: 24
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#2Taimur Saleem (Aga Khan University)H-Index: 14
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Purpose: We recently identified a KIT exon 11 mutation in an anorectal melanoma of a patient who had an excellent response to treatment with imatinib. To determine the frequency of KIT mutations across melanoma subtypes, we surveyed a large series of tumors. Experimental Design: One hundred eighty-nine melanomas were screened for mutations in KIT exons 11, 13, and 17. KIT copy number was assessed by quantitative PCR. A subset of cases was evaluated for BRAF and NRAS mutations. Immunohistochemist...
483 CitationsSource
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Primary mucosal melanomas are rare, biologically aggressive neoplasms. The distribution of head and neck, female genital tract, anal/rectal, and urinary tract sites is 55.4%, 18.0%, 23.8%, and 2.8%, respectively. The median age at presentation is the seventh decade, and women are given the diagnosis more frequently than men. Unfortunately, most afflicted individuals harbor micrometastatic disease and experience a course characterized by multiple local recurrences before the clinical development ...
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Targeted therapies for malignant melanoma have improved patients' prognoses. A primary gastrointestinal malignant melanoma is very rare, with no standard treatment strategy. We treated a 78-year-old Japanese female with advanced primary gastrointestinal melanoma of the descending colon and gallbladder. We administered a multidisciplinary treatment: surgical resection of the descending colon and gallbladder tumors, resection of the metastatic lymph nodes behind the pancreas head, and immune check...
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