Introduction and Objectives: HER-2 overexpression occurs in 20% to 30% of invasive breast carcinomas. Even in localized disease, it is considered aggressive and can spread rapidly if not treated early. This report depicts the case of a patient with Luminal HER breast cancer with extensive cutaneous and lymph node disease, without visceral metastasis. Case Report: A 58-year-old woman with a lesion in the anterior thoracic region, ulcerated, painful, and friable to manipulation, with approximately 13 cm in the largest axis, initially diagnosed as dermatofibrosarcoma protuberans. The lesion evolved with rapid progression in size, 17 cm in the longest axis, and was re-biopsied, revealing invasive breast carcinoma with positive immunohistochemistry for ER (90%), RP (50%), HER2+ (3+), positive FISH, and Ki67 (20%). Staging examinations, extensive disease in the anterior thoracic region and right lymph node, other examinations were negative for visceral metastatic disease. Discussion: This case presents an atypical evolution of Luminal HER breast carcinoma in which the unusual clinical presentation delayed diagnosis. Unlike the identified common presentation, in this case, an extensive ulcerated and friable lesion on the anterior chest wall with extensive cutaneous and lymph node involvement is observed. Furthermore, we emphasized the relevance of the pathological findings for the correct identification of the tumor, since after reanalysis, the diagnosis of dermatofibrosarcoma protuberans was disregard, and the presence of molecular breast carcinoma subtype luminal HER was identified, which brings changes in prognosis and therapy. Conclusion: Therefore, a completely atypical manifestation of a luminal malignant HER mammary neoplasm, without visceral disease, is perceived. Furthermore, the importance of the clinical and pathological findings in the diagnosis and therapeutic management for the case resulting from atypical clinical manifestations is emphasized. Therefore, the importance of this report to expose a completely anomalous manifestation of breast cancer, which without a good investigation would receive incorrect treatment, is noted.
Introduction/Objectives: Breast cancer is one of the most common malignancies among women, with 10% resulting from genetic predisposition. Li-Fraumeni syndrome is an autosomal dominant disease that predisposes to multiple primary tumors and is responsible for less than 0.1% of breast cancers, being considered in early-onset tumors. The aim of this report was to describe a fast evolution of three primary tumors in a young patient with Li-Fraumeni syndrome, including ductal breast carcinoma. Case Report: In 2017, a 27-year-old female patient was diagnosed with malignant cancer of the right breast, Luminal HER KI67 70%, clinical stage IV (liver and lung), underwent first-line cancer treatment, maintaining endocrinotherapy and Double Block, with a positive genetic panel test for TP53 mutation, inferring SLF. In 2018, screening colonoscopy showed colon adenocarcinoma, pT53pN1, treated with total colectomy with ileal pouch, followed by suspension of endocrinotherapy and maintenance of Double Block and adjuvant FOLFOX. At the end of chemotherapy, endocrinotherapy was adopted again. Reassessment tests showed partial response in the liver, but the primary nodules were unchanged. Biopsy after thoracoscopy described lung adenocarcinoma, pT3pN2, submitted to adjuvant with Gemzar and Navelbine, followed by Double Block and interruption of endocrinotherapy. It evolved with the appearance of nodules in the right breast, suggestive of progression of breast disease, under treatment with Xeloda, Herceptin, and Perjeta, showing good clinical response. Discussion: Breast cancer in young people increases the possibility of heredity, thus raising the need for investigations of genetic syndromes. Although rare, the identification of FHL brings an important implication for the genetic counseling. Early diagnosis is the best form of management, enabling the preventive screening and intervention of multiple malignancies. Conclusion: Cases of breast cancer in young women should raise a suspected diagnosis of Li-Fraumeni syndrome, which can change the therapeutic and investigation of other cancers at an early stage.
Resumo Introdução: o Mesotelioma Peritoneal Maligno (MPM) é uma doença rara e letal com variável grau de agressividade. A morbimortalidade está relacionada com a carga de doença tumoral e a sobrevida mediana sem tratamento é de cerca de 12 meses. Quimioterapia baseada em cisplatina é o tratamento padrão nos casos de doença avançada irressecável, ou nos pacientes que declinam cirurgia, associado a quimioterapia hipertérmica intraperitoneal (HIPEC). Desenvolvimento: paciente, 54 anos, com histórico de perda ponderal, desconforto e aumento progressivo de volume abdominal, com imagem evidenciando espessamento peritoneal difuso e ascite, foi submetido a laparoscopia e biópsia com achados positivos para MPM, sendo realizada quimioterapia de 3ª linha com cisplatina e gemcitabine, seguido de manutenção com gemcitabine, apresentando resposta completa, sendo, portanto, caso de resposta excepcional e atípica para doença. Considerações finais: Apesar dos fatores de prognóstico desfavoráveis e rápida progressão aos esquemas iniciais, o paciente do caso apresentou melhora clínica importante e ausência de doença mensurável com esquema de cisplatina e gemcitabine, seguido de gemcitabine de manutenção. Comparado com dados vigentes na literatura, tal resposta é excepcional e atípica, haja vista as características biológicas tumorais da doença. Palavras-chave: Neoplasias Peritoneais; Oncologia; Antineoplásicos Alquilantes; Antimitóticos Abstract Objective: Malignant peritoneal mesothelioma (MPM) is a rare and lethal disease with variable degree of aggressiveness. Morbidity and mortality are related to the burden of tumor disease and median survival without treatment is about 12 months. Cisplatin-based chemotherapy is the standard of treatment in cases of advanced unresectable disease or in patients who decline surgery associated with intraperitoneal hyperthermic chemotherapy (HIPEC). Development: a 54-year-old patient with a history of discomfort, progressive increase in abdominal volume and weight loss, with an image showing diffuse peritoneal thickening and ascites, underwent laparoscopy and biopsy with positive findings for MPM, undergoing 3rd-line chemotherapy with cisplatin and gemcitabine, followed by maintenance with gemcitabine, showing a complete response, therefore being an exceptional and atypical response to disease. Final considerations: Despite the unfavorable prognostic factors and rapid progression to the initial regimens, the patient showed significant clinical improvement and absence of measurable disease with cisplatin and gemcitabine regimen, followed by maintenance gemcitabine. Compared with data from the literature, exceptional and atypical presentation, due to the tumor's biological characteristics of the disease. Keywords: Peritoneal Neoplasms; Medical Oncology; Antineoplastic Agents, Alkylating; Antimitotic Agents
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