RESUMO
Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis defined as the association of rare sebaceous gland skin tumors, keratoacanthomas, and a personal or familial history of malignant visceral tumors. Germline mutations in certain mismatch repair genes (MMR) have been identified in MTS families and their identification is a cornerstone for diagnosis of MTS. We reviewed our series of sebaceous neoplasms and performed immunohistochemistry (IHC) in order to screen for new MTS cases. Sebaceous neoplasms and visceral tumors from the same patient diagnosed between 1980-2006 were included. Immunohistochemistry to determine the presence or absence of MMR gene products in skin and visceral tumors was performed with mouse monoclonal antibodies anti-MSH2, anti-MSH6 and anti-MLH1. Six sebaceous neoplasms were identified in six females. Four patients presented a lack of expression of at least one of the MMR proteins in visceral and cutaneous neoplasms, thus warranting the diagnosis of MTS. Immunohistochemistry is a useful and accessible technique for the characterization of MMR gene expression in patients with sebaceous neoplasms.
Assuntos
Adenoma/diagnóstico , Carcinoma/diagnóstico , Imuno-Histoquímica , Síndrome de Muir-Torre/diagnóstico , Neoplasias das Glândulas Sebáceas/diagnóstico , Glândulas Sebáceas/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/deficiência , Proteínas Adaptadoras de Transdução de Sinal/genética , Adenoma/metabolismo , Anticorpos Monoclonais , Carcinoma/metabolismo , Reparo de Erro de Pareamento de DNA , Proteínas de Ligação a DNA/deficiência , Proteínas de Ligação a DNA/genética , Diagnóstico Diferencial , Feminino , Neoplasias Gastrointestinais/complicações , Humanos , Imuno-Histoquímica/métodos , Masculino , México , Pessoa de Meia-Idade , Síndrome de Muir-Torre/genética , Síndrome de Muir-Torre/metabolismo , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS/deficiência , Proteína 2 Homóloga a MutS/genética , Mutação , Proteínas Nucleares/deficiência , Proteínas Nucleares/genética , Neoplasias das Glândulas Sebáceas/complicações , Neoplasias das Glândulas Sebáceas/metabolismo , Glândulas Sebáceas/patologiaRESUMO
BACKGROUND: This is the first report in Mexico of a case of severe combined immunodeficiency syndrome (SCID) associated with colonic stenosis. The patient was an 8-month-old Mexican female who died at this age. She suffered infections due to microorganisms such as Mycobacterium tuberculosis, bacille Calmette-Guérin (BCG), Candida sp., and Pneumocystis carinii; and had frequent diarrhea. She was HIV-negative without familial history of immunodeficiency. The aim of the work was to analyze the immunologic status of this patient. METHODS: Peripheral blood from the patient and from a healthy matched control were analyzed by flow cytometry to determine peripheral leukocytes and production of cytokines and their receptors in T-lymphocytes and monocytes. Immunohistochemical analysis was performed in spleen and lymph node sections from the patient and control samples to assess alterations in architectural and cellular distribution within these lymphoid tissues. RESULTS: Peripheral blood analysis demonstrated reduced numbers of both T and B cells and defective expression of cytokines by activated T cells. Postmortem analysis revealed very small T and B cell zones in spleen and lymph nodes, absence of germinal centers and follicular dendritic cell networks, and two zones of stenosis at level of colon sigmoides. CONCLUSIONS: As a whole, these data are consistent with severe combined immunodeficiency (SCID) syndrome; thus, we conclude that this patient may have had a variant of SCID syndrome associated with intestinal stenosis.
