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Advances in the diagnosis and treatment of inherited bone marrow failure syndromes (IBMFS) have provided insight into the complexity of these diseases. The diseases are heterogeneous and characterized by developmental abnormalities, progressive marrow failure, and predisposition to cancer. A correct diagnosis allows for appropriate treatment, genetic counseling, and cancer surveillance. The common IBMFSs are Fanconi anemia, dyskeratosis congenita, and Diamond-Blackfan anemia. Hematopoietic cell transplantation (HCT) offers curative treatment of the hematologic complications of IBMFS. Because of the systemic nature of these diseases, transplant strategies are modified to decrease immediate and late toxicities. HCT from HLA-matched related or unrelated donors offers excellent survival for young patients in aplasia. Challenges include the treatment of adults with marrow aplasia, presentation with myeloid malignancy regardless of age, and early detection or treatment of cancer. In this article, I will describe our approach and evaluation of patients transplanted with IBMFS and review most frequent complications before and after transplant.

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Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. We present the case of a 54-year-old woman with germline APC gene mutation, who underwent a total colectomy, subsequently developing two large infiltrative solid intra-abdominal lesions consistent with desmoid tumors. Medical treatment with Cox-2 inhibitors was initiated without result. She was submitted to resection for intestinal obstruction, but developed local recurrence. The lesions were also unresponsive to tamoxifen, and chemotherapy was initiated with dacarbazine plus doxorubicin, switching to vinorelbine plus methotrexate, achieving a good response in all lesions after 12 months. The approach to these intra-abdominal lesions should be progressive, beginning with observation, then a medical approach with non-steroidal anti-inflammatory drugs or with an anti-hormonal agent. Afterwards, if progression is still evident, chemotherapy should be started. Surgery should be reserved for resistance to medical treatment, in palliative situations, or for extra-abdominal or abdominal wall desmoids tumors.

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Hereditary renal cancers account for approximately 5%-8% of all renal tumors. Over the past 2 decades, a number of syndromes have been identified that predispose patients to early renal cancer development, representing all the major histologic types of tumor pathology. In this article, we describe the current knowledge concerning the cell type, known mechanism of tumor development, other manifestations of the syndrome, imaging findings, genetic screening, and imaging surveillance recommendations for each of the major syndromes associated with hereditary renal cancers.

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Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes. Accurate identification of patients with germ line mutations associated with leukemia can have important clinical implications as it relates to management of the leukemia, as well as genetic counseling of family members.

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More than 200 cancer susceptibility syndromes (CSS) have been recognized through performing classic epidemiologic studies and genetic linkage analysis. In most CSSs clinical conditions of the patients have been identified as well as their hereditary patterns and the predisponent genes to cancer development. Cancer hereditary identification is a useful condition, since cancer family integrants may benefit of efficient strategies in early screening and in tumor prevention strategies; this consultation is performed by oncogenetic molecular medical consultants who must be scientifically competent for Human Genetics and Cancer molecular biology domains. The oncogenetic molecular consult of patients and family relatives of cancer predisposition families is a medical service in health programs of developed and developing countries; in our country this type of medical service needs to be organized and settled to be part of the integral oncology medical service. The oncogenetic molecular consultation is a structural process of assessment and communication of the associated integral problems of the cancer inherited susceptibility in familial cancer.

Se han descrito más de 200 síndromes de susceptibilidad hereditaria humana para desarrollar cáncer (SSHDC), los cuales han sido identificados a partir de estudios clásicos epidemiológicos y de análisis de ligamiento genético. En la mayoría de los SSHDC se han identificado las condiciones clínicas de los pacientes, sus patrones de herencia y los genes que predisponen al desarrollo del cáncer. La identificación de cánceres hereditarios es de gran utilidad, ya que los familiares de los pacientes podrán beneficiarse de medidas eficaces no solo en la detección precoz, sino también en la prevención de los tumores; esta identificación se realiza por medio de la consulta de especialistas en oncogenética molecular, quienes deben ser competentes en las áreas de genética humana y biología molecular del cáncer. La consulta oncogenética molecular de los pacientes y de los integrantes de familias con predisposición al cáncer es un servicio de atención médica en países desarrollados y en algunos en vías de desarrollo que se realiza desde hace más de una década; en nuestro país, este tipo de consulta requiere organizarse y establecerse para formar parte de la atención médica integral oncológica. La consulta oncogenética es un proceso estructurado de evaluación y comunicación de los problemas integrales asociados con la susceptibilidad hereditaria de padecer cáncer.

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Infantile hemangiomas are the most common benign tumors of infancy. While most of them have an uncomplicated course, between 10 and 15

are at risk for complications, especially during the proliferative phase, and can cause impairment of vital functions or produce permanent cosmetic disfigurement. In this update we delineate the natural history of infantile hemangiomas, with special emphasis on identifying those that require special diagnostic evaluations and multidisciplinary and closer follow-up, reviewing the study and treatment indications and current treatment modalities.

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Infantile hemangiomas are the most common benign tumors of infancy. While most of them have an uncomplicated course, between 10 and 15% are at risk for complications, especially during the proliferative phase, and can cause impairment of vital functions or produce permanent cosmetic disfigurement. In this update we delineate the natural history of infantile hemangiomas, with special emphasis on identifying those that require special diagnostic evaluations and multidisciplinary and closer follow-up, reviewing the study and treatment indications and current treatment modalities.

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Infantile hemangiomas are the most common benign tumors of infancy. While most of them have an uncomplicated course, between 10 and 15

are at risk for complications, especially during the proliferative phase, and can cause impairment of vital functions or produce permanent cosmetic disfigurement. In this update we delineate the natural history of infantile hemangiomas, with special emphasis on identifying those that require special diagnostic evaluations and multidisciplinary and closer follow-up, reviewing the study and treatment indications and current treatment modalities.

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INTRODUÇÃO: As neoplasias malignas em vários órgãos podem apresentar ocorrência esporádica ou familiar. O patologista cirúrgico desempenha papel decisivo no diagnóstico do câncer hereditário. Este estudo visou à revisäo dos recursos disponíveis na rotina diagnóstica para a detecção do câncer hereditário, bem como à discussão das abordagens terapêuticas cirúrgicas profiláticas relatadas. MÉTODOS: Revisäo de artigos relacionados às síndromes do câncer hereditário quanto ao diagnóstico e às cirurgias profiláticas. RESULTADOS: Os principais achados clínicos indicadores da síndrome do câncer hereditário relatados säo: idade precoce ao diagnóstico, múltiplos tumores primários, vários membros acometidos de uma mesma família e diversas gerações acometidas. Os tipos histológicos mais freqüentemente associados às síndromes de câncer familiar säo: carcinoma ductal pouco diferenciado e carcinoma medular da mama, adenocarcinomas serosos de alto grau do ovário, carcinoma medular da tireóide e carcinoma gástrico difuso. Mastectomia bilateral, ooforectomia bilateral, gastrectomia total e tireoidectomia total säo modalidades de cirurgias profiláticas relatadas. CONCLUSÄO: O material de rotina diagnóstica em patologia cirúrgica fornece informações valiosas para o diagnóstico do câncer hereditário, podendo influenciar favoravelmente o prognóstico com indicações apropriadas para rastreamento clínico. A indicaçäo para cirurgias profiláticas permanece controversa, principalmente quanto às ooforectomias e às mastectomias bilaterais

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