ABSTRACT
ABSTRACT Introduction The gastrointestinal lymphoma can be classified in primary or secondary, and this is important regarding diagnosis and subsequent treatment. Primary gastrointestinal lymphoma of the rectum is rare and therefore lacks data in medical literature. Its incidence has been increasing and that fact may be related to a higher incidence in immunosuppressive therapy and immunosuppressive diseases (such as AIDS). Metodology 19 articles have been reviewed, searched online on the Scielo and PubMed databases. The goal was to increase data available regarding this pathology and improve its therapy. Discussion Primary GI lymphoma of the rectum presents as hematochezia, rectal pain, change in bowel habits. PET/CT is the first choice exam to pursue investigation; however abdominal CT and MRI reveal sufficient information and are much more available in daily practice. Plasmablastyc lymphoma is an aggressive subtype and is usually associated with AIDS patients. There are no available treatment protocols for this specific type of lymphoma and colonic lymphoma's therapy is usually used for this patient (such as ECHOP and CHOP). Conclusion As rare as this pathology is, this article aims to improve the available data and provide useful information regarding diagnosis and therapy.
RESUMO Introdução O linfoma do TGI pode ser dividido entre primário e secundário, com importância diagnóstica e terapêutica. O linfoma primário de reto é patologia rara, pouco relatada em literatura médica. Sua incidência tem aumentado e possivelmente esse fenômeno esteja associado ao aumento no numero de pacientes com imunossupressão (seja por SIDA ou drogas imunossupressoras). Metodologia Foram revisados 19 artigos nas bases de dados Scielo e PubMed, com o objetivo de aumentar o número de relatos dessa patologia e consequentemente expandir o conhecimento disponível, visando melhorar a terapêutica e, principalmente, o diagnóstico desse tipo de linfoma. Discussão Quando o linfoma tem seu sítio primário no reto, as principais manifestações são sangramento, dor retal, tenesmo e mudança nos hábitos intestinais (diarreia ou constipação). O exame de investigação de escolha é o PET/CT, porém a TC e RNM fornecem as informações necessárias e são mais disponíveis na prática clínica. O linfoma plasmablástico é um subtipo bastante agressivo e associado aos pacientes com SIDA. Não existem ainda protocolos definidos para o tratamento do linfoma primário de reto, sendo optado por seguir a mesma terapêutica dos linfomas de cólon com esquemas EPOCH e CHOP. Conclusão Por se tratar de patologia rara e pouco descrita na literatura, espera-se que este relato contribua na formação de protocolos de tratamento específicos.
Subject(s)
Humans , Male , Rectum/pathology , Lymphoma, AIDS-Related , Lymphoma/drug therapy , Acquired Immunodeficiency Syndrome , Gastrointestinal Diseases , Lymphoma/diagnosis , Lymphoma/physiopathologyABSTRACT
Abstract Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.
Resumo Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.
Subject(s)
Humans , Female , Adult , Li-Fraumeni Syndrome/diagnosis , Breast Neoplasms/diagnosis , Breast Neoplasms/genetics , Breast Neoplasms/pathology , Magnetic Resonance Imaging , Cerebellar Neoplasms/diagnosis , Cerebellar Neoplasms/genetics , Cerebellar Neoplasms/pathology , Cerebellar Neoplasms/diagnostic imaging , Li-Fraumeni Syndrome/genetics , Combined Modality Therapy , Adenocarcinoma, Mucinous/diagnosis , Adenocarcinoma, Mucinous/genetics , Adenocarcinoma, Mucinous/pathology , Diagnosis, Differential , Medulloblastoma/diagnosis , Medulloblastoma/genetics , Medulloblastoma/pathology , Medulloblastoma/diagnostic imaging , Neoplasms, Multiple Primary/diagnosis , Neoplasms, Multiple Primary/genetics , Neoplasms, Multiple Primary/pathologyABSTRACT
Abstract: Morbihan disease is a rare condition characterized by chronic and persistent erythematous solid edema localized on the face. It is believed to be a complication of rosacea and may occur at any stage of the disease. Features of this condition include variable therapeutic response and great refractoriness. We report a case of a 61-year-old man with rosacea history diagnosed with Morbihan disease, who showed excellent therapeutic response with the combination of deflazacort and oral isotretinoin but developed recurrence after corticosteroid discontinuation. We believe that in severe cases of lymphedema of the face this combination is effective and corticosteroid suspension should be done slowly and gradually.
Subject(s)
Humans , Male , Middle Aged , Pregnenediones/therapeutic use , Isotretinoin/therapeutic use , Dermatologic Agents/therapeutic use , Erythema/drug therapy , Facial Dermatoses/drug therapy , Anti-Inflammatory Agents/therapeutic use , Recurrence , Treatment Outcome , Rosacea/complications , Erythema/pathology , Facial Dermatoses/pathology , Lymphedema/pathology , Lymphedema/drug therapyABSTRACT
Abstract The occurrence of multiple primary melanomas in a single individual is rare. Most commonly, malignant melanocytic lesions subsequent to the initial diagnosis of melanoma are secondary cutaneous metastases. We report a patient with gastrointestinal bleeding from gastric metastasis of cutaneous melanoma. During clinical evaluation and staging, we discovered a brain metastasis associated with 3 synchronous primary cutaneous melanomas. We suggest the research on the mutation in the cyclin-dependent kinase inhibitor 2A (CDKN2A) (INK4a) in such cases. We also emphasize the importance of clinical examination and dermoscopy of the entire tegument, even after a malignant melanocytic lesion is identified.