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)
Sources
Abstract
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.
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18 CitationsSource
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Background: Genetic alterations have been identified in melanomas according to different levels of sun exposure. Whereas the conventional morphology-based classification provides a clue for tumor growth and prognosis, the new classification by genetic alterations offers a basis for targeted therapy. Objective: The purpose of this study is to demonstrate the biological behavior of melanoma subtypes and compare the two classifications in the Korean population. Methods: A retrospective chart review...
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BRAF inhibitors have demonstrated improvement of overall survival in patients with metastatic melanoma and BRAFV600 mutations. In order to evaluate BRAF tumor heterogeneity between primary and metastatic site, we have evaluated the performance of immunohistochemistry (IHC) with an anti-BRAFV600E antibody in both localization by comparison with high resolution melting analysis followed by Sanger sequencing in a parallel blinded study. A total of 230 samples distributed as primary melanoma (n = 88...
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#1Jun Guo (Peking Union Medical College)H-Index: 70
#1Jun Guo (Academy of Medical Sciences, United Kingdom)H-Index: 18
Last. Shukui QinH-Index: 5
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Purpose Melanomas harbor aberrations in the c-Kit gene. We tested the efficiency of the tyrosine kinase inhibitor imatinib in selected patients with metastatic melanoma harboring c-Kit mutations or amplifications. Patients and Methods Forty-three patients with metastatic melanoma harboring c-Kit aberrations were enrolled on this phase II trial. Each patient received a continuous dose of imatinib 400 mg/d unless intolerable toxicities or disease progression occurred. Fifteen patients who experien...
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#1Zhihong Chi (PKU: Peking University)H-Index: 21
#2Siming Li (PKU: Peking University)H-Index: 19
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Background Malignant melanoma is a rare disease in Asia, and knowledge on its characteristics and clinical outcome in Asian patients is limited. The purpose of this observational study was to determine the clinical presentation and outcome of patients with melanoma in China.
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#1Umair Khalid (Aga Khan University)H-Index: 9
#2Taimur Saleem (Aga Khan University)H-Index: 14
Last. Muhammad Rizwan Khan (Aga Khan University)H-Index: 11
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Background Melanomas within the alimentary tract are usually metastatic in origin. On the other hand, primary melanomas of the gastrointestinal tract are relatively uncommon. There are several published reports of melanomas occurring in the esophagus, stomach, small bowel, and anorectum. The occurrence of primary melanoma of the colon has, however, only been rarely reported. The optimum modus operandi for the management of primary colonic melanoma remains nebulous due to the limited number of re...
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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...
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#1Ronald J. Patrick (USF: University of South Florida)H-Index: 2
#2Neil A. Fenske (USF: University of South Florida)H-Index: 56
Last. Jane L. Messina (USF: University of South Florida)H-Index: 68
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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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Malignant gastrointestinal melanoma is usually a metastatic lesion. We report the case of a 67-year-old female patient who presented with intermittent abdominal pain, fever, rigor and diarrhoea. CT scan of the abdomen revealed a large mass at the right iliac fossa with features concerning for intra-abdominal abscess. Exploratory laparotomy confirmed the preoperative diagnosis of abscess, and a right hemicolectomy was performed. Histopathological examination of the surgical specimen was indicativ...
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