Rectal leiomyosarcoma as the initial phenotypic manifestation of Li-Fraumeni-like syndrome: a case report and review of the literature.

BACKGROUND: Leiomyosarcoma is a rare malignant tumor of smooth muscle origin and represents 10-20% of all soft tissue sarcomas. Primary colon and rectal sarcomas constitute < 0.1% of all large bowel malignancies. In Li-Fraumeni syndrome, sarcomas are the second most frequent cancer (25%). Li-Fraumeni syndrome is a genetic disease with a familial predisposition to multiple malignant neoplasms. This syndrome has an autosomal dominant pattern of inheritance and high penetrance characterized by germline TP53 mutations. Patients with a history of cancer who do not meet all the "classic" criteria for Li-Fraumeni syndrome are considered to have Li-Fraumeni-like syndrome. To the best of our knowledge, this article is the first report of a patient with rectal leiomyosarcoma as the initial phenotypic manifestation of Li-Fraumeni-like syndrome. The authors also present a literature review. CASE PRESENTATION: A 67-year-old Brazilian woman underwent anterior rectosigmoidectomy and panhysterectomy secondary to rectal leiomyosarcoma. She subsequently developed carcinomatosis and died 2 years after the operation. Her family medical history consisted of a daughter who died at 32 years of age from breast cancer, a granddaughter diagnosed with adrenocortical carcinoma at 6 years of age and two siblings who died from prostate cancer. A genetic study was carried out to identify a pathogenic variant of Li-Fraumeni syndrome. In the DNA extracted from the peripheral blood leukocyte, restriction fragment length polymorphism was analyzed to search for mutations in the TP53 gene. The DNA sequencing identified the germline pathogenic variant p. R337H heterozygous in exon 10 of TP53. The patient was classified as having Li-Fraumeni-like syndrome. CONCLUSION: In patients with rectal leiomyosarcoma, it is advisable to investigate the family history of cancer and perform genetic studies to screen for Li-Fraumeni syndrome.

Comment on Balsamo et al.: "Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature".

In this comment, we highlight the diagnosis of Birt-Hogg-Dubé (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indicated trichodyscomas and which are considered equivalent to fibrofolliculomas, presence of bilateral renal mass suggestive of angiomyolipomas by imaging exams. A benign/likely benign variant of FLCN in the intron 13 was also detected. Still, his previous pathological history presented other relevant data such as the prior removal of vocal cord angioma, total thyroidectomy, and left parotidectomy due to a cystic lesion whose histopathological examination revealed the presence of oncocytoma and lipomatosis, in addition to basal cell cutaneous carcinoma. Simultaneous gastrointestinal hyperplastic polyposis was found in this patient. The case we reported does not have the genotypic and phenotypic expressions most present in BHDS. These facts make it important for readers to know the clinical and genetic presentation facets of this unusual syndrome.

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Although the dermatological lesions typical of BHDS are benign and only cause aesthetic concerns, and the pulmonary manifestations are controllable, the greater tendency of patients with this syndrome to present benign or malignant renal tumors, often bilateral and multifocal, makes the diagnosis of this syndrome important for the prognosis of the patients. The objective was to report the case of a patient with BHDS, without pulmonary manifestations and with hyperplastic polyposis of the gastrointestinal tract, and to perform a literature review. CASE PRESENTATION: A 60-year-old man complained of abdominal pain and diarrhoea for 2 months. Physical examination was normal except for the presence of normochromic papules in the frontal region of the face associated with hyperkeratotic and hyperchromic papules in the dorsal region. The excisional biopsies of the skin lesions indicated trichodiscomas. Esophagogastroduodenoscopy, enteroscopy, and colonoscopy showed the presence of hyperplastic polyps in the stomach, duodenum, jejunum, colon, and rectum. Computed tomography (CT) and magnetic resonance imaging (MRI) of the abdomen revealed multiple expansive solid lesions in both kidneys, with necrotic and calcified areas. Renal magnetic resonance angiography also showed a solid lesion in the right kidney measuring 5 cm in diameter and another solid lesion in the left kidney measuring 8 cm in diameter, both suggestive of renal angiomyolipoma. CT scans of the skull, chest, and temporal bones were normal. The genetic study revealed the presence of a variant of FLCN in the intron 13. CONCLUSIONS: To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.

Intestinal obstruction due to malign breast neoplasm and peritoneal carcinomatosis: a case report

Peritoneal carcinomatosis due to breast cancer is rare and gastrointestinal tract involvement is also unusual. Symptoms are unspecific and can begin many years after the primary tumor. Investigation of carcinomatosis origin is mandatory as breast cancer carcinomatosis can relieve partially or totally with chemo and hormonal therapy. A case of colonic obstruction due to carcinomatosis secondary to breast cancer is reported, emphasizing its diagnostic aspects and treatment. (AU)

A carcinomatose peritoneal secundária ao câncer de mama é entidade rara e o comprometimento do trato gastrointestinal é pouco frequente. A sintomatologia bastante inespecífica dificulta o diagnóstico e os sintomas podem surgir vários anos após o aparecimento do tumor primário. O diagnóstico da origem da carcinomatose é fundamental, pois quando a doença é secundária à neoplasia de mama, pode ocorrer remissão parcial e até total da doença com quimio e hormonioterapia. Relata-se caso de obstrução colônica devido a carcinomatose peritoneal secundária a neoplasia maligna de mama, com ênfase em seu diagnóstico e tratamento. (AU)

Correlação entre achados manométricos e sintomatologia na incontinência fecal / Correlation between manometric findings and symptomatology in fecal incontinence

Foram estudados 92 pacientes com sintomatologia de incontinência fecal, no período de julho de 2005 a fevereiro de 2009. Os sintomas de incontinência foram classificados de acordo com o Cleveland Clinic Incontinence Score e os pacientes foram submetidos à manometria anorretal. Foram avaliados: idade, sexo, cirurgia prévia, sintomatologia e achado manométrico. Observou-se que o aumento da intensidade da sintomatologia de incontinência fecal está relacionado à diminuição progressiva das pressões de repouso. O mesmo não foi constatado com as pressões de contração na amostra estudada.

We have studied 92 patients with fecal incontinence symptoms, from July 2005 to February 2009. They were classified on the Cleveland Clinic Incontinence Score and all of them have undergone on manometric examination. Sex, age, previous surgery, symptomatology, and manometric findings were analyzed. We have concluded that the increase of incontinence symptoms is related to the progressive decrease on resting pressures. The same was not found with squeeze pressures in the studied sample.

Carcinoma espinocelular de reto: relato de caso / Squamous cell carcinoma of the rectum: a case report

O Carcinoma Espinocelular de Reto é entidade extremamente rara e seu comportamento biológico permanece desconhecido. O tratamento pode variar entre radio e quimioterapia isoladamente ou complementar ao tratamento cirúrgico. Relatamos caso de carcinoma espinocelular de reto superior, tratado com radio e quimioterapia, com regressão total da lesão.

Squamous cell carcinoma of the rectum is a extremely rare neoplasm and its biological behavior remains unknown. Treatment varies from surgery with and without adjuvant therapy to chemotherapy and radiotherapy alone. We present a patient with squamous cell carcinoma of the superior rectum who underwent chemo and radiotherapy exclusively, with total regression of the tumor.

Adenocarcinoma de reto com metástase para mandíbula: relato de caso / Metastatic adenocarcinoma from the rectum to the mandible: a case report

Os autores relatam um caso de metástase de adenocarcinoma de reto para mandíbula, manifestação de rara incidência e que é sub-diagnosticada. Demonstram a radioterapia local como paliação e recuperação da função mastigatória.

The authors report a case of metastatic adenocarcinoma of the rectum to the mandible, a rare presentation of the disease that is almost always underestimated. Authors demonstrate local radiotherapy for palliation with recovery of the masticatory function.

Cisto pilonidal sacrococcígeo: resultados do tratamento cirúrgico com incisão e curetagem / Pilonidal sinus: surgical treatment results with incision and curettage

Duzentos e treze doentes com cisto pilonidal sacrococcígeo foram submetidos a tratamento cirúrgico pela técnica de incisão e curetagem, no período de janeiro de 1997 a dezembro de 2006. Foram avaliados o sexo, a idade o tipo de anestesia, o tempo de internação, período de cicatrização, complicações e seguimento. Conclui-se que a técnica de incisão e curetagemé uma boa opção no tratamento cirúrgico do cisto pilonidal sacrococcígeo, proporcionando tempo aceitável de cicatrização e baixos índices de recidiva.

From January 1997 to December 2006, 213 patients with pilonidal sinus have undergone on surgical treatment with incision and curettage technique. We analyzed age, sex, the anesthetic and surgical procedures, recovery as well as healing time and follow up. We have concluded that incision and curettage in surgical treatment of pilonidal sinus is a good option, with quick recovery and an acceptable healing time.

Intussuscepção de intestino delgado em paciente adulto por Gist: relato de caso e revisão da literatura / Small intestine intussusception in adult due to GIST: a case report

A intussuscepção do intestino delgado em adultos é rara e geralmente está associada à presença de neoplasias. Dentre estas, o GIST, a neoplasia mesenquimal em 30 por cento dos casos é considerada de alto grau de malignidade , são ainda menos comuns. A intussuscepção relacionada ao GIST tem sintomatologia inespecífica e pode manifestar-se com obstrução, massa palpável no abdômen, hemorragia ou perfuração intestinal. Relata-se caso de intussuscepção intestinal em paciente adulto por GIST, com ênfase em seu diagnóstico e tratamento.

Small intestinal intussusception in adults is rare and generally associated with neoplasms. Within them GIST, a mesenchymal neoplasm in which 30 percent of patients have high grade malignancy, are even less common. Intussusception and GIST may have unspecific symptoms and it almost always presents with obstruction, palpable abdominal mass, hemorrhage and bowel perforation. A case of intestinal intussusception in adult due to GIST is reported, emphasizing diagnose and treatment.

Ressecção alargada para o adenocarcinoma colorretal localmente invasivo: relato de caso e revisão da literatura / Enlarged resection for locally advanced colorectal adenocarcinoma: case report and literature review

O câncer colorretal localmente invasivo, que acomete por contiguidade estruturas adjacentes e sem metástases à distância, ocorre de 5 a 18% dos casos. São adequadamente tratados com ressecção do tumor e órgãos comprometidos em monobloco e margens livres. É relatado o caso de paciente de 27 anos, masculino, portador de adenocarcinoma de retossigmóide com extensa invasão para bexiga e ceco. Tratado com colectomia total, cistectomia radical em monobloco e ileostomia. O trânsito urinário foi reconstituído com reservatório ileal e anastomose com a uretra prostática. O estudo anátomo-patológico da peça cirúrgica revelou adenocarcinoma moderadamente diferenciado, invasão perineural e invasão da parede da bexiga (T4, N0). Realizou no pós-operatório quimioterapia adjuvante, 6 ciclos, com 5-Fluorouracil e ácido folínico. Após 36 meses de seguimento, o paciente encontra-se livre de doença neoplásica, função urinária preservada, porém com ejaculação retrógrada.

The locally advanced colorectal cancer compromises adjacent structures and do not disseminate distant metastasis, occur in 5 to 18% of patients. It is properly treated with tumour resection as well as other compromised organs in an "en bloc" resection with free margins. We report a 27 year old, male patient with colorectal adenocarcinoma invading the urinary bladder and cecum. He was treated with total colectomy associated with radical cistectomy and ileostomy. The urinary transit was established building an ileal reservatory anastomosed to the urethra. The tumour histopathologic study showed adenocarcinoma moderate differentiated, invading urinary bladder (T4N0). Postoperative treatment was 5-fluorouracil and folinic acid chemotherapy. After 36 months of outcome, patient is improving and preserves urinary function but has ejaculatory dysfunction.

Linfangioma perineal: relato de caso / Perineal lymphangioma: a case report

O linfangioma é uma neoplasia benigna que pode se manifestar em qualquer local do corpo, sendo a localização perineal ou retrorretal bastante incomuns. Apresenta sintomatologia inespecífica, podendo manifestar-se de diversas formas, como o abaulamento perineal e compressão de estruturas pélvicas. Relata-se um caso de linfangioma perineal com ênfase em seu tratamento já que esta entidade clínica, apesar de benigna, tem potencial de malignização.

Lymphangioma is a benign neoplasm that can manifest anywhere in the body. The perineal or retrorectal localization is very uncommon. It presents unspecific symptomatology such as compression and displacement of pelvic structures. A case of perineal lymphangioma is reported emphasizing its treatment considering that they are benign tumors with malignant potential.

Carcinoma adenoescamoso do reto: relato de caso / Adenosquamous rectal carcinoma: a case report

Os carcinomas adenoescamosos são neoplasias bastante raras que ocorrem mais freqüentemente no reto e porções distais do cólon. A apresentação clínica e macroscópica destas lesões não difere do adenocarcinoma. Relata-se um caso de tumor adenoescamoso do reto, cuja confirmação diagnóstica somente foi realizada após a cirurgia de ressecção tumoral e estudo imuno-histoquímico.

The adenosquamous carcinomas are rare and occur in the lower part of the colon and rectum. Their symptomatology and macroscopy do not differ from adenocarcinoma lesions. We report an adenosquamous rectal tumor which diagnosis was confirmed only after tumor resection and immunocytochemical study.

Doença de Crohn metastática para axila / Metastatic Crohn's disease to the axilla

Relata-se um caso de doença de Crohn com manifestação cutânea axilar extremamente rara, bem como suas peculiaridades em relação ao diagnóstico e tratamento.

The description of a case of metastatic Crohn's disease, a rare skin manifestation to the axillar region with diagnostic features and treatment schedules.

Tumor carcinóide retal polipóide: relato de caso / Polypoid retal carcinoid tumor: case report

Os tumores carcinóides são neoplasias derivadas das glândulas de Lieberkühn que acometem o trato gastrointestinal, mais comumente o apêndice cecal. A apresentação retal é pouco freqüente, sobretudo na forma polipóide, e o tratamento depende, fundamentalmente, das suas dimensões, da presença de metástases e da profundidade da invasão parietal. É relatado o caso de um paciente de 43 anos que apresentava prurido anal há 18 meses. O exame proctológico evidenciou pólipo séssil de cerca de 0,5 cm de diâmetro a sete cm da margem anal, que foi excisado endoscopicamente. A imunohistoquímica confirmou o diagnóstico de tumor carcinóide. O paciente foi submetido à ressecção endoanal da área de escara da polipectomia como complementação terapêutica.

Carcinoid tumors are neoplasms that arise from the Lieberkühn glands of the gastrointestinal tract, most frequently the cecal appendix. The rectal presentation is rare, especially the polypoid one. The treatment depends on its dimensions, presence of metastatic disease and parietal invasion.This article presents a case of a patient of 43 years old with anal pruritus for the last 18 months. Proctologic examination showed a sessile polyp with 0,5 cm of diameter at 7 cm from anal verge, endoscopically excised. The hystopathological study diagnosed a carcinoid tumor by imunohystochemical study. The patient was submitted to an endoanal excision of the scar as a complementation to treatment. The specimen did not demonstrate any residual lesions.

Histiocitose de células de Langerhans perianal: relato de caso / Perianal Langerhans cell histiocytosis: case story

A histiocitose de células de Langerhans é uma doença caracterizada pela proliferação de células histiocitárias denominadas células de Langerhans, cujo acometimento perianal é raríssimo. As manifestações variam de uma lesão solitária a um envolvimento multisistêmico. O diagnóstico é confirmado por meio de estudo imunohistoquímico. O tratamento consiste em exérese da lesão perianal, podendo ser ou não complementada com quimioterapia.

Condiloma acuminado em cicatriz cirúrgica de amputação abdômino-perineal do reto: relato de caso / Condyloma acuminata in surgery scar of abdominal amputation of rectum: case story

Os autores relatam um caso de condiloma acuminado em cicatriz cirúrgica abdominal, perineal e pericolostômica, em uma mulher submetida a amputação abdômino-perineal do reto por adenocarcinoma de reto inferior. O tratamento inicial consistiu em exérese das lesões e posterior tratamento químico das recidivas.