Primary Dedifferentiated Amelanotic Anorectal Melanoma: Report of a Rare Case

Bell, Phoenix; Israel, Anna-Karoline; Dunn, Andrew; Liao, Xiaoyan

doi:10.1177/1066896919857148

Cited by 9 publications

(7 citation statements)

References 30 publications

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“…They are usually associated with Human papillomavirus (HPV) infection and p16 overexpression [19,20]. Melanocytic lesions are usually positive for S100, SOX10, HMB45 and MelanA, but negative for cytokeratins [21], although rare cases can lose melanocytic markers and gain aberrant expression of cytokeratins [22]. Atypical regenerative basal keratinocytes sometimes can be mistaken as Paget's cells; however, basal keratinocytes have intercellular bridges and are positive for squamous markers.…”

Section: Discussionmentioning

confidence: 99%

Perianal Paget’s disease: a clinicopathological and immunohistochemical study of 13 cases

et al. 2020

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Background: Perianal Paget's disease (PPD) is rare and mostly described in clinical literature as case reports or small series. Methods: We investigated the clinicopathologic and immunohistochemical features of PPD in a total of 13 cases retrieved from multiple academic institutions. Results: The median age at diagnosis was 75 (range 50-86) years. Males were predominant with a male to female ratio of 2.25:1. Four (30.8%) cases were classified as primary PPD due to lack of synchronous or metachronous underlying malignancies, while nine (69.2%) were classified as secondary PPD with concurrent invasive adenocarcinoma (n = 8) or tubular adenoma with high-grade dysplasia (n = 1). Immunohistochemically, there is no differential expression of CK7 or CK20 in Paget's cells between primary and secondary PPD; however, GCDFP-15 was only positive in primary PPD (3/3 vs. 0/6, P = 0.012), while CDX2 was only positive in secondary PPD (0/3 vs. 7/7, P = 0.008), suggesting different cell origin. All patients received local surgical resection with or without adjuvant therapy. After a median followup of 47 months, one patient with secondary PPD (7.7%) died of disease progression from underlying adenocarcinoma. Conclusions: PPD occurs in elderly patients with male predominance and is frequently associated with underlying malignancies. Differential expression of CDX2 and GCDFP-15 may help distinguishing primary vs. secondary PPD, which is important for management as the presence of an underlying malignancy impacts clinical course and prognosis. Surgical excision remains the major treatment strategy for PPD. Long-term follow-up is required to monitor the disease recurrence and metastasis.

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Section: Discussionmentioning

confidence: 99%

Perianal Paget’s disease: a clinicopathological and immunohistochemical study of 13 cases

et al. 2020

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“…Um dos tipos mais agressivos de melanoma é o melanoma amelanótico (MAM). Ele geralmente surge em pele, mas em alguns casos pode ter seu sítio primário em mucosas, como em mucosa nasal ou anorretal (8)(9) tendo apresentação como nódulo ou mácula de coloração róseo-avermelhada (6) . O MAM também vem sendo estudado devido a sua maior associação com herança de variantes de risco quando comparado a outros tipos de melanoma (10) .…”

Section: Discussionunclassified

Melanoma metastático em cólon: relato de caso / Metastatic melanoma in colon: a case report

Utiyama

Guerra

Barbosa

et al. 2019

Arq Med Hosp Fac Cienc Med Santa Casa São Paulo

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Objetivo: Apresentar um caso de melanoma de pele com metástase para o cólon expondo a evolução incomum da doença e os possíveis caminhos terapêuticos disponíveis. Descrição: Relato de caso de um paciente do sexo masculino, de 57 anos, que buscou o serviço da Santa Casa de São Paulo em 2015 com uma história prévia de melanoma em quirodactilo e antebraço ipsilaterais, foi então indicada e realizada a exérese da lesão e a biopsia identificou um melanoma acral, com margens livres. Foi então iniciado tratamento com Interferon. Nos dois anos seguintes, uma metástase pulmonar e uma recidiva na mão esquerda foram diagnosticados e ambas as biopsia confirmaram ser do melanoma. Em 2018 uma tomografia de abdome evidenciou uma tumoração no cólon e a biopsia e imunohistoquímica confirmaram se tratar de melanoma. Foi então realizada uma cirurgia para retirada da parte afetada. Além disso, nesse mesmo ano, o paciente teve que ser submetido a amputação do braço esquerdo devido a nova recidiva local. Em junho do ano seguinte, uma colonoscopia e uma tomografia de abdome apresentaram imagens compatível com recidiva em cólon, além de invasão gástrica e em contato com a cauda pancreática. Após reunião com a equipe de coloproctologia, foi contraindicado o procedimento cirúrgico. O paciente está recebendo cuidados paliativos da equipe da oncologia com tratamento medicamentoso.Comentários: o melanoma metastático em cólon é raro, sendo linfonodos, pulmões, fígado e cérebro os sítios mais comumente atingidos. Inúmeros trabalhos mostram o aumento da incidência mundial do melanoma. Cerca de 70% dos casos se originam de nevos melanocíticos pré-existentes, e os 30% restantes surgem de novo. Dada a agressividade do melanoma, a sobrevida depende de um diagnóstico e tratamento precoces. No entanto, em alguns casos, mesmo com o tratamento cirúrgico, quimioterápico e radioterápico adequados, a agressividade do câncer impede que tais tratamentos tenham resultados satisfatórios.Descritores: Melanoma, Neoplasias do colo, Neoplasias cutâneas, Metástase neoplásicaAbstract Objective: To present a case of metastatic skin melanoma in colon, exposing the unusual evolution of the disease and the therapeutic possibilities. Description: A report of a 57-year-old male patient that in 2015 came to Santa Casa with a previous history of ipsilateral chirodactyl and forearm melanoma. At the time it was indicated the excisional biopsy that identified acral melanoma with free margins. Interferon treatment was then started. Over the next two years, a pulmonary metastasis and a recurrence in the left hand were diagnosed and both biopsies confirmed to be melanoma. In 2018 an abdominal CT scan showed a tumor in the colon and biopsy and immunohistochemistry confirmed that it was melanoma. Surgery was then performed to remove the affected part. In addition, that same year, the patient had to undergo amputation of the left arm due to new local recurrence. In June of the following year, a colonoscopy and a CT scan showed images compatible with colon recurrence, as well as gastric invasion and contact with the pancreatic tail. After discussion with the coloproctology team, the surgical procedure was contraindicated. The patient is receiving palliative care from the oncology team using drug treatment. Comments: Metastatic melanoma in colon is quite rare, with lymph nodes, lungs, liver and brain being the most common sites of metastasis. Numerous studies show the increasing incidence of melanoma worldwide. About 70% originate from pre-existing melanocytic nevi, and the remaining 30% arise again. Given the aggressiveness of melanoma, survival depends on early diagnosis and treatment.Keywords: Melanoma, Colonic neoplasms, Skin neoplasm, Neoplasm Metastasis

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“…The search for more effective prognostic models for AM is limited due to the rarity of the disease 12. Most recent evidence of AM relies only on small case series from single institutions 13–15.…”

Section: Introductionmentioning

confidence: 99%

Effect of surgical treatment for anorectal melanoma: a propensity score-matched analysis of the Surveillance, Epidemiology, and End Results programme data

et al. 2022

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ObjectiveAnorectal melanoma (AM) is a rare but aggressive tumour with limited information in the existing literature. This study aimed to assess the effect of surgical treatment for AM and predict the prognosis of affected patients.DesignA retrospective cohort study.SettingData of patients diagnosed with AM between 1975 and 2016 in the USA were collected from the Surveillance, Epidemiology, and End Results (SEER) database.ParticipantsThis study enrolled a total of 795 patients with AM from the SEER database and the validation cohort comprised 40 patients with AM enrolled from Chinese institutes.Primary and secondary outcome measuresOverall survival (OS) and AM-specific survival (AM-SS).ResultsA total of 795 patients with AM diagnosed between 1975 and 2016 were enrolled in this study. Data over the past four decades showed a trend of increase in incidence rate. A nomogram based on a multivariate Cox regression model was generated to predict AM-SS. The C-index of the nomogram was 0.74 (95% CI 0.71 to 0.77) on internal verification. In the validation cohort, the C-index of the nomogram was 0.72 (95% CI 0.68 to 0.76). The results of propensity score matching (PSM) analysis showed that patients who underwent surgical treatment achieved significant survival (OS: log-rank=17.41, p<0.001; AM-SS: log-rank=14.55, p<0.001). Patients who underwent surgery were stratified into local and extended surgery subgroups. AM-SS and OS were also compared after PSM, but the results were not significantly different between the two surgery subgroups (all p>0.05).ConclusionsThe nomogram based on the analysis of SEER data showed good performance in predicting OS and AM-SS. Patients with AM can benefit from surgery; however, extensive surgery and appendectomy may not improve AM-SS or OS.

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Primary Dedifferentiated Amelanotic Anorectal Melanoma: Report of a Rare Case

Cited by 9 publications

References 30 publications

Perianal Paget’s disease: a clinicopathological and immunohistochemical study of 13 cases

Perianal Paget’s disease: a clinicopathological and immunohistochemical study of 13 cases

Melanoma metastático em cólon: relato de caso / Metastatic melanoma in colon: a case report

Effect of surgical treatment for anorectal melanoma: a propensity score-matched analysis of the Surveillance, Epidemiology, and End Results programme data

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