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.
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
Introduction: Breast cancer is one of the neoplasms that most cause death in women. Among these, there are some subtypes of greater biological aggressiveness, such as triple negative and HER overexpressed, which are associated with greater recurrence and mortality. Adenoid cystic carcinoma (ACC), salivary gland type, represents less than 0.1% of primary breast carcinomas and has indolent biological behavior and favorable prognosis compared with nonspecial triplenegative types. Case Report: A 51-year-old woman diagnosed with locally advanced ACC in the right breast, with negative immunohistochemistry for hormone receptors and HER2, underwent quadrantectomy with upfront axillary dissection, followed by adjuvant radiotherapy. After 12 years of diagnosis, she presented significant back pain, with magnetic resonance imaging scan evidencing bone lesion without medullary involvement in D7 and L1 suggestive of the secondary implant. Anatomopathology revealed the same histology as the primary tumor. Re-evaluation of chest tomography showed progression of pulmonary disease, 5 months after diagnosis of the first metastasis, underwent segmentectomy, with descriptive pathology identical to the initial lesion. Due to the oligoprogression and tumor type, somatic genetic research of the lung material was requested, which revealed a mutation in the NTRK gene, patient is still waiting for Larotrectinib in court. Discussion: The tumor has an unusual histological type, rare occurrence, slow progression course, and the absence of lymph node metastasis; the average incidence is around age 60. In this case, a young patient presented an ACC tumor with lung and bone metastasis. Due to the rarity, there is no definitive consensus regarding the ideal treatment, with the literature referring to the choice of mastectomy. Conclusions: Although malignant breast neoplasms and nonspecial subtypes, such as ductal and triple negative, have a poor prognosis, breast carcinoma of this aforementioned type has a favorable prognosis. The search for driver mutations in cancers of special types, together with the advances in genetic medicine, allows satisfactory results with target-specific treatments.
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