ABSTRACT
To analyze the occurrence of genetic mutations in a sample of patients with high risk of breast cancer in Florianopolis/ SC from December 1st, 2021, to January 31, 2022. Methods: An observational, descriptive and retrospective study carried out through data collection of a preexisting database. A total of 194 tests were analyzed. Of these, 192 met the inclusion criteria and composed the final sample of 205 genes. Data were classified and reported the frequency and percentage of the variables: gene and presence or absence of mutation. Results: Mean age of the analyzed patients was 52.3 years, and most underwent the test due to personal history of breast cancer (80%). Clinical significance classification showed that, of the 192 gene panels, 62% were variants of uncertain significance; 14% were pathogenic; and 24%, negative. Of the 205 mutations, the most prevalent genes were: ATM 8.7%, MUTYH 5.8%, POLE 5.8%, BRCA2 4.8%, MSH6 4.8% and RECQL4 4.8%. Of the pathogenic tests regarding genetic predisposition to cancer (n=38/14.1%), the most common mutations were MUTYH (23%) and BRCA1 (15%), with mean age of 52 years (±14.3). In variants of uncertain significance panels (n=168/62%) the frequency rates were ATM (7.7%), POLE (7.1%) and MSH6 (5.9%) genes. The high penetrance genes were present in 18% of the genetic predisposition to cancer panels. Of those with positive family history (n=40), 19% of the genes were pathogenic, 53% were variants of uncertain significance; and 26% were negative. Furthermore, in patients with pathogenic mutations and positive family history (n=11), the most common mutations were in BRCA1 (27%) and BRCA2 (27%). Of the patients who tested due to personal history (n=152), 64% of the genes presented variants of uncertain significance, 13% were pathogenic and 22% were negative.
ABSTRACT
Granulomatous mastitis is a rare and benign condition of the breast that, in some cases, has an unknown etiology of benign inflammatory disease know as idiopathic mastitis. Your diagnosis is usually made by exclusion. Imaging tests have shown nonspecific findings that may suggest an inflammatory disease, a carcinoma, or no changes. A differential diagnosis should be made with other causes of mastitis, always alerting to the risk of inflammatory carcinoma. Imaging tests are more useful to rule out malignancy than to confirm idiopathic granulomatous mastitis. Because both imaging and physical examination can mimic a malignant lesion of the breast, the histopathological report is fundamental to establish the diagnosis. Its etiology remains unknown, so the treatment is controversial in the literature, with some authors recommending surgery, others immunosuppression, and, finally, some antibiotics. We report the case of a 21-year-old woman with a suspected lesion in the breast associated with papillary discharge. During the investigation, there was a 12 x 6 x 8.5 cm enhancement on magnetic resonance imaging associated with inflammatory signs on the skin and lymph nodes. Anatomopathological examination revealed a idiopathic granulomatous mastitis. The enhancement disappeared completely after conservative treatment with corticosteroids. Mammography and ultrasound may also demonstrate nonspecific changes, such as focal asymmetry, undefined mass, or distortion. Despite the limitations of the imaging studies, it has been demonstrated in this report that MRI can be used to monitor the clinical response to conservative treatment and follow-up by the risk of recurrence.
A mastite granulomatosa é uma condição rara e benigna da mama que, em alguns casos, possui etiologia desconhecida de doença inflamatória benigna, a mastite idiopática. Seu diagnóstico normalmente é feito por exclusão. Os exames de imagens têm demonstrado achados inespecíficos que podem sugerir uma doença inflamatória, um carcinoma ou não apresentar alterações. Deve ser realizado um diagnóstico diferencial com outras causas de mastites, sempre alertando para o risco de carcinoma inflamatório. Os exames de imagem servem mais para descartar uma malignidade do que para confirmar a mastite granulomatosa idiopática. Em função de tanto os exames de imagem como o exame físico poderem simular uma lesão maligna da mama, o laudo histopatológico é fundamental para estabelecer o diagnóstico. A sua etiologia permanece desconhecida, portanto, o tratamento é controverso na literatura, com alguns autores recomendando cirurgia, outros a imunossupressão e, por fim, alguns antibióticos. É apresentado o caso de uma paciente de 21 anos com uma lesão suspeita na mama associada à descarga papilar. Durante a investigação, houve um realce de 12 x 6 x 8,5 cm na ressonância magnética associado a sinais inflamatórios na pele e nos linfonodos. O exame anatomopatológico evidenciou um quadro de mastite granulomatosa idiopática. O realce desapareceu completamente após o tratamento conservador com corticoterapia. A mamografia e o ultrassom também podem demonstrar alterações inespecíficas, tais como assimetria focal, massa indefinida ou distorção. Apesar das limitações dos exames de imagem, demonstrou-se, neste relato, que a ressonância magnética pode ser utilizada para monitorar a resposta clínica ao tratamento conservador e o acompanhamento pelo risco de recorrência.
ABSTRACT
Hematopoietic diseases can be found in the breast and mimic a mammary neoplasm, such as leukemia and/or lymphoma. Although lymphomas are considered lymph node tumors, 25-40% have extranodal sites. Primary lymphomas of the breast represent 0.1- 0.5% of all breast neoplasms and may have primary or secondary origin. Primary lymphomas normally start in the breast without involvement of other sites. The diagnosis is made through physical and pathological examination. We report a 77-year-old female who had a locally advanced mass in the right breast associated with inflammatory signs and symptoms and with palpable axillary lymph nodes. The imaging tests were non-specific and didn't help the diagnosis. The pathology report revealed a diffuse, B-cell lymphoma infiltrating the breast (lymphoma non-Hodgkin's). Due to the rarity of the case, and the unknown pathogenesis systemic chemotherapy with CHOP (cyclophosphamide, doxorubicin, vincristine and prednisone) regime were performed. The use of rituximab, as well as radiotherapy, remain controversial in the literature, but for some authors the radiotherapy is indicated with a total dose of 30 to 45 GY. Our patient performed radiotherapy of the breast and axilla. Because of total remission of the disease, it was not necessary complementary treatment or breast surgery.
Doenças hematopoiéticas podem ser encontradas na mama e simular uma neoplasia mamária, como leucemia e/ou linfoma. Apesar de os linfomas serem considerados tumores linfonodais, 25-40% acometem sítios extranodais, sendo um deles a mama. Os linfomas primários da mama representam 0,1-0,5% de todas as neoplasias da mama. Podem ter origem primária ou secundária. Os primários normalmente iniciam-se na mama sem acometimento de outros sítios linfonodais. O diagnóstico é feito através do exame físico e anatomopatológico. Relatamos um caso de uma paciente, idosa, de 77 anos, que compareceu em nosso serviço com uma massa progressiva envolvendo toda a mama direita, ulcerada e associada a sinais e sintomas inflamatórios com linfonodos axilares palpáveis. Os exames de imagem foram inespecíficos e não ajudaram no diagnóstico, não tendo sido recomendados para o rastreio dessa neoplasia. O exame anatomopatológico revelou um linfoma de células B difuso infiltrando a mama (linfoma não Hodgkin). Devido à raridade do caso, a etiopatogenia é desconhecida, e o tratamento foi realizado com os esquemas quimioterápicos para linfoma segundo o consenso para linfomas de células B, sendo a base o tratamento com antraciclinas. A paciente realizou seis ciclos de CHOP (ciclofosfamida, doxorrubicina, vincristina e prednisona), com a regressão total da lesão. O uso do rituximabe, bem como a radioterapia, permanecem controversos na literatura, mas a radioterapia é indicada por alguns autores na dose de 30 a 45 GY. Nossa paciente realizou radioterapia da mama e da axila com ausência de remissão da doença, não tendo sido necessário tratamento complementar ou cirurgia da mama.