RESUMO
BACKGROUND: Extragonadal choriocarcinoma is rare and can be associated with hyperthyroidism when producing very high levels of human chorionic gonadotropin. CASE PRESENTATION: A 62-year-old Hispanic female presented with a 3-week history of shortness of breath, palpitations, extreme weakness, new-onset hot flashes, and right flank pain. Her physical examination was remarkable for tachycardia, hepatomegaly, hyperreflexia, and tremor; goiter was absent. Laboratory studies revealed increased lactate dehydrogenase, alkaline phosphatase, suppressed thyroid stimulating hormone, very elevated T4, and absent thyroid stimulating immunoglobulin. 18F-fluorodeoxyglucose positron emission tomography-computed tomography exhibited hepatomegaly with multiple large fluorodeoxyglucose-avid liver masses and a focus of fluorodeoxyglucose avidity in the stomach with no structural correlate. A thyroid scan (99mTcO 4 - ) showed diffusely increased tracer uptake. She was started on propranolol and methimazole. Upon stabilization of severe thyrotoxicosis, upper endoscopy was performed, showing a ~ 5 cm bleeding lesion in the greater stomach curvature body; biopsy was consistent with choriocarcinoma; beta-human chorionic gonadotropin hormone was 2,408,171 mIU/mL. The patient received methotrexate followed by etoposide and cisplatin. Methimazole was titrated down, and upon liver failure the medication was stopped. The thyrotoxicosis was effectively controlled with antithyroid drug and concurrent chemotherapy. At ~ 1.5 months after initial diagnosis, the patient died due to bleeding/acute liver failure with coagulation defects followed by multiple organ failure. CONCLUSIONS: Severe thyrotoxicosis can represent an unusual initial presentation of metastatic choriocarcinoma in the setting of extreme elevation of beta-human chorionic gonadotropin. Primary gastric choriocarcinoma is an aggressive malignancy with very poor outcomes. The co-occurrence of severe thyrotoxicosis with advanced primary gastric choriocarcinoma and imminent liver failure complicates management options.
Assuntos
Coriocarcinoma , Hipertireoidismo , Falência Hepática , Neoplasias Gástricas/patologia , Tireotoxicose , Coriocarcinoma/complicações , Coriocarcinoma/diagnóstico , Coriocarcinoma/tratamento farmacológico , Gonadotropina Coriônica/uso terapêutico , Gonadotropina Coriônica Humana Subunidade beta , Feminino , Hepatomegalia , Humanos , Hipertireoidismo/diagnóstico , Hipertireoidismo/tratamento farmacológico , Hipertireoidismo/etiologia , Falência Hepática/complicações , Masculino , Metimazol/uso terapêutico , Pessoa de Meia-Idade , Neoplasias Embrionárias de Células Germinativas , Gravidez , Neoplasias Testiculares , Tireotoxicose/complicações , Tireotoxicose/diagnóstico , Tireotoxicose/tratamento farmacológico , Tomografia Computadorizada por Raios XRESUMO
Inflammatory myofibroblastic tumor (IMT) is a lesion of intermediate biological potential with local recurrences and rare metastases found in multiple anatomical locations. We present a case of a pure intraarticular IMT of the knee, a location that has not been previously documented, with genetic confirmation of ALK-CARS fusion detected with next-generation sequencing. A 20-year-old healthy male was admitted to the orthopedic oncology department due to several months of pain and restriction in movement of his left knee. On magnetic resonance imaging, multiple intraarticular nodular lesions were seen. The patient underwent 2 synovectomies within the course of 1 year. The initial biopsy was interpreted as nodular fasciitis. The second biopsy revealed exuberant tissue displaying compact fascicles of spindle cells intermixed with myxoid areas in a background of inflammatory cells, highly suggestive for IMT. Due to the unusual intraarticular location, equivocal ALK immunostaining and the differential diagnosis with nodular fasciitis, we performed targeted next-generation sequencing using Archer FusionPlex Sarcoma panel, which can identify multiple fusions in a single assay. An ALK-CARS fusion was found, supporting the diagnosis of IMT. This report emphasizes the added value of broad molecular analysis in cases with unusual clinical presentation, equivocal immunohistochemistry, and a wide differential diagnosis.
Assuntos
Articulação do Joelho/patologia , Proteínas de Fusão Oncogênica/genética , Neoplasias de Tecidos Moles/diagnóstico , Membrana Sinovial/patologia , Aminoacil-tRNA Sintetases/genética , Quinase do Linfoma Anaplásico/genética , Biópsia , Procedimentos Cirúrgicos de Citorredução , Diagnóstico Diferencial , Fasciite/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/imunologia , Articulação do Joelho/cirurgia , Imageamento por Ressonância Magnética , Masculino , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/imunologia , Neoplasias de Tecidos Moles/cirurgia , Sinovectomia , Membrana Sinovial/diagnóstico por imagem , Membrana Sinovial/imunologia , Adulto JovemRESUMO
Thyroid cancer is the most common endocrine malignancy, presenting with 23 500 new cases per year in the United States. About 7-23% of the patients will present recurrent metastases disease during follow-up. The classic variant of papillary carcinoma is less aggressive compared to its other variants like diffuse sclerosing, tall cell or columnar cell, and insular variants, and the sites to which this metastasizes is already well identified. Metastasis to the spleen is an extremely rare manifestation of papillary thyroid cancer. To date, only 3 cases have been reported in the literature. Herein, we present a 52-year-old male, who developed spleen metastases, 2.4 years after total thyroidectomy and central neck dissection followed by radioactive iodine ablation and seven months after treatment with sorafenib for lung metastases. The splenic lesion was detected in surveillance studies. This case highlights that splenic metastasis, although rare, may occur even in a patient with a locoregional and systemic controlled thyroid cancer and that it can be treated safely with surgical resection.