Fecal transplantation in patient with metastatic melanoma refractory to immunotherapy: A case report.

BACKGROUND: Immunotherapy has revolutionized the treatment of metastatic melanoma, but a significant proportion of patients still experience treatment resistance. Fecal microbiota transplantation (FMT) has emerged as a potential strategy to overcome immunotherapy resistance by modulating the gut microbiome. CASE SUMMARY: We present a case report of a 57-year-old male with metastatic melanoma refractory to immunotherapy who received FMT in combination with anti-programmed death-ligand 1 (PD-L1) immunotherapy (pembrolizumab). After failing multiple lines of treatment, the patient underwent a single FMT procedure by colonoscopy using fecal material from a female metastatic melanoma donor who successfully responded to immunotherapy. Following FMT, the patient demonstrated a response with decreased subcutaneous disease and subsequently underwent surgery to remove the residual disease. Despite a subsequent recurrence in the small bowel that was resected, the patient remained on pembrolizumab without evidence of melanoma recurrence at the time of writing. CONCLUSION: The favorable clinical and long-lasting effect we saw in our patient without significant toxicity suggests that this procedure should be considered in similar patients with immunotherapy refractory melanomas.

Perianal squamous cell carcinoma with high-grade anal intraepithelial neoplasia in an HIV-positive patient using highly active antiretroviral therapy: case report.

CONTEXT: Highly active antiretroviral therapy (HAART) has turned human immunodeficiency virus (HIV) infection into a chronic condition, and this has led to increased incidence of anal dysplasia among HIV-positive patients. Routine anal evaluation including the anal canal and perianal area is recommended for this population, especially for patients infected by oncogenic human papillomavirus (HPV) types. CASE REPORT: A 54-year-old homosexual HIV-positive man presented with a six-year history of recurrent perianal and anal warts. He had previously undergone incomplete surgical excision and fulguration in another institution on two occasions. He had been using HAART over the past two years. He presented some condylomatous spreading lesions occupying part of the anal canal and the perianal skin, and also a well-demarcated slightly painful perianal plaque of dimensions 1.0 x 1.0 cm. Both anal canal Pap smears and biopsies guided by high-resolution anoscopy revealed high-grade squamous intraepithelial lesion. Biopsies of the border of the perianal plaque also revealed high-grade squamous intraepithelial lesion. HPV DNA testing of the anus detected the presence of HPV-16 type. The patient underwent local full-thickness excision of the lesion. Histological analysis on the excised tissue revealed high-grade squamous intraepithelial lesion with one focus of microinvasive squamous cell cancer measuring 1 mm. No lymph vessel or perineural invasion was detected. The patient showed pathological evidence of recurrent anal and perianal high-grade squamous intraepithelial lesions at the sixth-month follow-up and required further ablation of those lesions. However no invasive squamous cell carcinoma recurrence has been detected so far.

Perianal squamous cell carcinoma with high-grade anal intraepithelial neoplasia in an HIV-positive patient using highly active antiretroviral therapy: case report

CONTEXT: Highly active antiretroviral therapy (HAART) has turned human immunodeficiency virus (HIV) infection into a chronic condition, and this has led to increased incidence of anal dysplasia among HIV-positive patients. Routine anal evaluation including the anal canal and perianal area is recommended for this population, especially for patients infected by oncogenic human papillomavirus (HPV) types. CASE REPORT: A 54-year-old homosexual HIV-positive man presented with a six-year history of recurrent perianal and anal warts. He had previously undergone incomplete surgical excision and fulguration in another institution on two occasions. He had been using HAART over the past two years. He presented some condylomatous spreading lesions occupying part of the anal canal and the perianal skin, and also a well-demarcated slightly painful perianal plaque of dimensions 1.0 x 1.0 cm. Both anal canal Pap smears and biopsies guided by high-resolution anoscopy revealed high-grade squamous intraepithelial lesion. Biopsies of the border of the perianal plaque also revealed high-grade squamous intraepithelial lesion. HPV DNA testing of the anus detected the presence of HPV-16 type. The patient underwent local full-thickness excision of the lesion. Histological analysis on the excised tissue revealed high-grade squamous intraepithelial lesion with one focus of microinvasive squamous cell cancer measuring 1 mm. No lymph vessel or perineural invasion was detected. The patient showed pathological evidence of recurrent anal and perianal high-grade squamous intraepithelial lesions at the sixth-month follow-up and required further ablation of those lesions. However no invasive squamous cell carcinoma recurrence has been detected so far.

CONTEXTO: A terapia anti-retroviral altamente ativa tornou a infecção pelo HIV uma condição crônica, levando a um aumento na incidência de pacientes HIV-positivos com displasia anal. A avaliação anal rotineira incluindo a região anal e perianal é recomendada nessa população, especialmente nos doentes infectados por tipos oncogênicos do HPV. RELATO DE CASO: Um homem homossexual HIV-positivo de 54 anos foi encaminhado para avaliação de condilomas anais e perianais recorrentes há seis anos. Referia duas ressecções cirúrgicas incompletas em outro serviço. Encontrava-se em uso de medicação anti-retroviral altamente ativa há dois anos. Ao exame proctológico, apresentava algumas lesões condilomatosas no canal anal e na região perianal, assim como uma placa bem delimitada de 1,0 por 1,0 cm levemente dolorosa na região perianal. Ambos esfregaço do canal anal e biópsia guiada por anoscopia de alta resolução revelaram lesão escamosa intraepitelial de alto grau. Uma biópsia da borda da placa perianal também diagnosticou lesão escamosa intraepitelial de alto grau. A pesquisa de DNA de HPV do canal anal detectou a presença do HPV tipo 16. O paciente foi submetido à excisão local profunda da lesão. O estudo anatomopatológico revelou lesão escamosa intra-epitelial de alto grau com um foco de 1 mm de carcinoma epidermóide microinvasivo, sem invasão perineural ou linfo-vascular. O paciente apresentou recorrência de lesão escamosa intra-epitelial de alto grau no canal anal e na região perianal confirmadas por biópsias no sexto mês pós-operatório, necessitando ablação. Entretanto, até o momento não apresentou recorrência do carcinoma epidermóide invasivo.

Cowden syndrome: report of two cases and review of clinical presentation and management of a rare colorectal polyposis.

BACKGROUND/AIMS: Cowden syndrome (CS) is a rare and complex disease inherited through an autosomal dominant trait associated with germline mutations of the PTEN gene. OBJECTIVE: This article reports 2 female patients with classic features of the syndrome and reviews the current guidelines regarding diagnosis and surveillance. REVIEW: Although it exhibits variable clinical expressivity, the diagnosis is based on characteristic mucocutaneous alterations such as multiple facial trichilemmomas, oral mucosal papillomatosis, and acral and palmoplantar keratoses. These manifestations often precede systemic involvement. Extracutaneous lesions include fibrocystic disease of the breast, thyroid goiters or adenomas, multiple polyposis of the gastrointestinal tract, and ovarian cysts. Gastrointestinal polyps are usually asymptomatic, and the risk of gastrointestinal cancer is not greatly increased. Otherwise, an important feature of Cowden's disease is the greater risk of breast and thyroid cancer. CONCLUSIONS: Because of the potentially serious associations with internal malignancy, early and accurate diagnosis of CS is essential. For this reason, all patients must be screened for occult malignancies and undergo close surveillance throughout lifetime.

Anorectal leiomyomas: report of two cases with different anatomical patterns and literature review.

Gastrointestinal mesenchymal tumors comprise a rare group of gastrointestinal tract wall tumors that have long been a source of confusion and controversy, especially in terms of pathological classification, preoperative diagnosis, management strategies, and prognosis. This report describes the clinical manifestations and management of 2 rectal leiomyomas and reviews the pertinent literature. Case 1: A 44-year-old woman was admitted reporting a nodule in the right para-anal region for the previous 2 years. At proctological examination, a 4-cm diameter fibrous mass situated in the para-anal region that produced an arch under the smooth muscle on the right rectal wall just above the anorectal ring was noted. Computed tomography and magnetic resonance imaging of the abdomen and pelvis showed the lesion and detected no other abnormalities. Surgical treatment consisted of wide local resection of the tumor through a para-anal incision, with no attempts to perform lymphadenectomy. Case 2: A 40-year-old male patient was admitted reporting constant anal pain for 4 months. He presented a 3-cm submucosal nodule at the anterior rectal wall just above the dentate line. After 2 inconclusive preoperative biopsies, transanal resection of the tumor was performed. Histological analysis of the specimen showed a benign leiomyoma. A review of the literature is presented, emphasizing some clinical and therapeutic aspects of this unusual rectal tumor.

Anorectal leiomyomas: report of two cases with different anatomical patterns and literature review

Os tumores mesenquimais gastrointestinais constituem um grupo raro de neoplasias que têm sido fonte de confusão e controvérsia, especialmente quanto à classificação patológica, diagnóstico pré-operatório, manuseio e prognóstico. O presente artigo descreve as manifestações clínicas e o tratamento de dois pacientes com leiomioma retal e revê a literatura pertinente. Caso 1: Uma mulher de 44 anos foi admitida referindo um nódulo na região paranal direita nos últimos 2 anos. Ao exame físico notou-se uma massa fibrosa de 4 centímetros de diâmetro situada na região paranal que produzia um discreto abaulamento na musculatura lisa da parede retal, logo acima do anel ano-retal. As imagens de tomografia computadorizada e ressonância magnética do abdômen e pelve confirmaram a lesão e não detectaram outras anormalidades. O tratamento cirúrgico consistiu de ressecção alargada do tumor através de uma incisão paranal, sem se realizar linfadenectomia. Caso 2: Outro paciente com 40 anos foi admitido com história de dor anal constante há 4 meses. Este homem apresentava nódulo submucoso de 3 cm na parede retal anterior, logo acima da linha pectínea. Após duas biópsias inconclusivas, realizou-se a ressecção transanal do tumor. A análise histológica do espécime demonstrou tratar-se de um leiomioma benigno. Uma breve revisão da literatura é apresentada, enfatizando alguns aspectos clínicos e terapêuticos deste tumor retal pouco comum.

Manifestações extracolônicas da polipose adenomatosa familiar: incidência e impacto na evoluçäo da doença / Extracolonic manifestations of familial adenomatous polyposis: incidence and impact on the disease outcome

RACIONAL: A polipose adenomatosa familiar é doença hereditária de caráter autossômico dominante, que freqüentemente se associa a numerosas manifestações extracolônicas. OBJETIVOS: Relatar a incidência de manifestações extracolônicas em nosso meio e analisar seu impacto na evoluçäo da doença. PACIENTES E MÉTODOS: Revisäo dos prontuários de pacientes com polipose adenomatosa familiar tratados no período de 1977 a 2001, relatando as manifestações extracolônicas associadas e suas complicações. RESULTADOS: Dos 59 pacientes com polipose adenomatosa familiar, 23 (38,9 por cento) apresentaram alguma manifestaçäo extracolônica por ocasiäo do diagnóstico ou no seguimento. Foram registradas 37 diferentes manifestações (1,6 por paciente). As mais comuns foram osteomas e alterações na pigmentaçäo da retina, diagnosticadas em 25 por cento e 20 por cento dos pacientes pesquisados, respectivamente. Outras manifestações extracolônicas achadas foram adenomas do trato digestivo superior, cistos epidermóides, tumores desmóides (sete cada), câncer gástrico (três) e câncer de tireóide (dois). Complicações importantes diretamente relacionadas aos tumores desmóides foram reportadas em seis pacientes, sendo obstruçäo intestinal em quatro e hidronefrose em dois. Registraram-se óbitos em dois pacientes (28,5 por cento). CONCLUSÕES: A incidência de manifestações extracolônicas é alta (40 por cento), podendo afetar a evoluçäo da doença e a qualidade de vida dos pacientes. Por esses motivos, torna-se de fundamental importância a pesquisa, a prevençäo e o tratamento adequado dessas manifestações na polipose adenomatosa familiar

[Extracolonic manifestations of familial adenomatous polyposis: incidence and impact on the disease outcome]. / Manifestações extracolônicas da polipose adenomatosa familiar: incidência e impacto na evolução da doença.

BACKGROUND: Familial adenomatous polyposis is a hereditary disease with autossomic and dominant features, frequently associated to many extracolonic manifestations. AIM: To report extracolonic manifestations incidence and to analyze its impact on the disease's outcome. PATIENTS AND METHODS: Revision of patient charts treated from 1977 to 2001, relating associated extracolonic manifestations and its complications. RESULTS: Among 59 familial adenomatous polyposis patients, 23 (38,9%) presented some extracolonic manifestations at diagnosis or during follow-up. There were registered 37 different extracolonic manifestations (1.6 per patient). The most common manifestations were osteomas and congenital hypertrophy of the retinal pigment epithelium, diagnosed in 25% and 20% of the investigated patients, respectively. Other extracolonic manifestations were represented by upper digestive adenomas, epidermoid cysts, desmoid tumor (seven each), gastric cancer (three) and tireoid cancer (two). Desmoid-associated complications were reported in six patients, being intestinal obstruction in four and hidronephrosis in two; two deaths (28,5%) were registered. CONCLUSIONS: Extracolonic manifestations incidence is high (40%) and may affect disease's outcome and patient's quality of life. For these reasons, the research, prevention and adequate treatment of extracolonic manifestations turn into vital importance in familial adenomatous polyposis patients.

Tratamento videolaparoscópico dos cistos simples de figado / Laparoscopic management of nonparasitic hepatic cysts

Foram estudados seis pacientes portadores de cisto hepatico simples, com sintomas decorrentes de sua presenca. Cinco eram do sexo feminino; a idade variou de 55 a 79 anos (media de 66 anos). Todos apresentavam lesoes cisticas, sem septos, calcificacoes ou projecoes papilares, sendo cinco com cistos unicos de localizacao em lobo direito e o outro com cistos multiplos. O diametro dos cistos variou de tres a 15 cm, e foram todos tratados por via videolaparoscopica. A operacao consistiu de puncao e aspiracao do liquido e resseccao da parede do cisto que nao tinha contato com o parenquima hepatico. Os pacientes evoluiram sem complicacoes no pos operatorio e receberam alta com media de 1,5 dias de internacao...

Correçäo laparoscópica de hernia difragmatica traumática crônica: relato de caso e revisäo da literatura / Management of chronic traumatic diaphragmatic hernia: case report and review of the literature

A hernia diafragmatica traumatica e entidade rara, com grande importancia devido a alta morbimortalidade. Tem gravidade significativa em pacientes vitimas de trauma abdominal fechado e pode ser de dificil diagnostico devido ao grande numero de lesoes associadas. Descreve-se caso de hernia diafragmatica traumatica cronica em paciente oligossintomatico, cuja indicacao cirurgica foi devido a presenca de volvo gastrico. A cirurgia laparoscopica permite a correcao de tais defeitos exclusivamente por via abdominal, sem necessidade de acesso torascopico ou intubacao seletiva

Colecisterctomia laparoscopica x minicolecistectomia: estudo comparativo de 66 casos / Laparoscopic cholecystectomy x minicholecystectomy: comparative study in 66 patients

A colecistectomia continua sendo o tratamento mais eficaz e o de eleicao para a colecistopatia calculosa. Diante da tendencia natural a metodos cada vez menos invasivos, procurou-se estabelecer, no presente estudo, analise comparativa entre a colecistectomia laparoscopica (CL) e a colecistectomia por incisao de 4cm (minicolecistectomia-MC)...