RESUMO
Colorectal cancer (CRC) has a 5-year overall survival rate of over 60%. The decrease in the rate of metastatic disease is due to screening programs and the population's awareness of healthy lifestyle. Similarly, advancements in surgical methods and the use of adjuvant chemotherapy have contributed to a decrease in the recurrence of resected disease. Before evaluating a patient's treatment, it is recommended to be discussed in a multidisciplinary tumor board. In stage II tumors, the pathologic characteristics of poor prognosis must be known (T4, number of lymph nodes analyzed less than 12, lymphovascular or perineural invasion, obstruction or perforation, poor histologic grade, presence of tumor budding) and it is mandatory to determine the MSI/MMR status for avoiding administering fluoropyridimidines in monotherapy to patients with MSI-H/dMMR tumors. In stage III tumors, the standard treatment consists of a combination of fluoropyrimidine (oral or intravenous) with oxaliplatin for 6 months although the administration of CAPOX can be considered for 3 months in low-risk tumors. Neoadjuvant treatment is not consolidated yet although immunotherapy is achieving very good preliminary results in MSI-H patients. The use of ctDNA to define the treatment and monitoring of resected tumors is only recommended within studies. These guidelines are intended to help decision-making to offer the best management of patients with non-metastatic colon cancer.
RESUMO
Primary rectal adenocarcinoma with extensive choriocarcinomatous differentiation is a rare neoplasm, with only sporadic cases reported worldwide. The prognosis is typically poor, and no standard therapy has been established for this tumor. We report a case of a 63-year-old woman who presented with lower abdominal and pelvic discomfort, as well as rectal bleeding. Endoscopy revealed a rectal tumor. She was diagnosed with primary rectal adenocarcinoma with extensive choriocarcinomatous differentiation, accompanied by liver metastasis and peritoneal carcinomatosis. The immunohistochemical profile demonstrated strong and diffuse positivity for keratin (AE1/AE3), beta-human chorionic gonadotropin (ß-HCG), p53, MYC, p16, and Ki-67. Molecular analysis indicated mutations in KRAS, TP53, and PI3KCA. Despite the tumor's profile, the serum ß-HCG level was not elevated. A chemotherapy regimen for metastatic colorectal adenocarcinoma was initiated, but there was a poor response, with rapid tumor progression. The patient survived for only 5 months postdiagnosis. We discuss the histopathological, immunohistochemical, and molecular findings, emphasizing their relevance to the differential diagnosis of neoplasms with choriocarcinomatous differentiation.
RESUMO
BACKGROUND: Primary cardiac tumors are extremely rare; most are myxomas with a benign prognosis. However, primary sarcomas are highly aggressive and treatment options are limited. Radical surgery is often not feasible and conventional therapies provide only modest results. Due to the rare nature of primary cardiac tumors, there are no proper randomized studies to guide treatment. Their complexity requires alternative approaches in order to improve treatment efficacy. METHODS: We isolated DNA from 5 primary cardiac sarcomas; the quality of DNA from 3 of them was sufficient to perform high-resolution single nucleotide polymorphism (SNP) array analysis. RESULTS: In the present study, molecular karyotyping revealed numerous segmental chromosomal alterations and amplifications affecting actionable genes that may be involved in disease initiation and/or progression. These include chromosomal break flanking AKT2 in undifferentiated pleomorphic rhabdomyosarcoma, chromosomal break in promoter of TERT, and gain of CDK4 and amplification of MDM2 in inflammatory myofibroblastic tumor. We detected segmental break flanking MOS in high-grade myxofibrosarcoma. In addition, the high number of chromosomal aberrations in high-grade myxofibrosarcoma may cause multiple tumor-specific epitopes, supporting the study of immunotherapy treatment in this type of aggressive tumor. CONCLUSION: Our results provide a genetic rationale that supports an alternative, personalized therapeutic management of primary cardiac sarcomas.
RESUMO
Immunotherapy has revolutionized the treatment of non-small cell lung cancer; however, its role in the treatment response of lung brain metastasis is unknown. Understanding immunotherapy activity in the central nervous system is important in order to avoid additional toxicity, such as that associated with the use of cerebral radiotherapy. We present two cases with clinical and radiological progression with increases in size and perilesional edema of brain lesions after treatment with a combination of ipilimumab and nivolumab. The increasing use of immunotherapy in lung cancer requires increased knowledge of new patterns of radiological response, such as pseudoprogression.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/secundário , Neoplasias Pulmonares/patologia , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Biomarcadores Tumorais , Biópsia , Neoplasias Encefálicas/diagnóstico , Progressão da Doença , Feminino , Humanos , Ipilimumab/administração & dosagem , Neoplasias Pulmonares/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Terapia de Alvo Molecular/efeitos adversos , Terapia de Alvo Molecular/métodos , Nivolumabe/administração & dosagem , Resultado do TratamentoRESUMO
Undifferentiated pleomorphic sarcoma (UPS) is the most common sarcoma that appears in older patients, usually in the extremities and the retroperitoneum. Other locations are rare. By definition, in UPS, although the malignant cells tend to appear fibroblastic or myofibroblastic, they should not show differentiation towards a more specific line of differentiation. In this sense, we report the case of an 80-year-old patient with an initial clinical diagnosis of a locally advanced colonic neoplasm that was later confirmed as a primary mesenteric UPS. Primary mesenteric UPS are extremely rare with less than 20 cases reported. We also review the pathologic and radiologic diagnostic criteria and the natural history of these tumours.