RESUMO
O coriocarcinoma ovariano não gestacional é uma apresentação rara de câncer de ovário, acometendo principalmente mulheres pré-púberes. É considerada uma neoplasia agressiva, sendo comum a ocorrência de expansão para o pulmão em cerca de 80% dos pacientes, como no caso a seguir. Relato do caso: Sexo feminino, 12 anos de idade, com sangramento vaginal e distensão abdominal prolongados. A tomografia computadorizada mostrou volumosa massa heterogênea predominantemente cística e múltiplos septos grosseiros de permeio. Dosagem do beta-HCG de 49.929,81 mUI/ml. Foi submetida à laparotomia mediana para estadiamento, com anexectomia esquerda mais ressecção do tumor retroperitoneal e do omento, identificando-se estádio IV. O exame histopatológico concluiu ser um tumor de células germinativas do ovário constituído por coriocarcinoma não gestacional. Após alta hospitalar, foi submetida a sessões de quimioterapia. Posteriormente, apresentou em exames de imagem nódulos em ambos os pulmões, além de formações expansivas distribuídas no parênquima hepático. Nesse contexto, foi realizada metastectomia pulmonar meses depois. Após isso, novos exames de imagem foram realizados para o reestadiamento da doença. Foram encontrados alguns nódulos pulmonares residuais e, na ressonância magnética de crânio, sinais de hemorragia crônica. A evolução da paciente não foi favorável, havendo agravamento do estado geral e óbito um ano após o diagnóstico. Conclusão: Compreende-se, desse modo, a agressividade dessa doença, em especial na faixa pediátrica feminina, uma vez que a metástase precoce ocorre em uma porcentagem significativa dos casos, levando a um prognóstico desfavorável
Non-gestational ovarian choriocarcinoma is a rare form of ovarian cancer, mainly affecting prepubertal women. It is considered an aggressive neoplasm and expansion to the lung is common in around 80% of patients, as in the following case. Case report: Female, 12 years old, with prolonged vaginal bleeding and abdominal distension. Computed tomography showed a large heterogeneous mass, predominantly cystic, with multiple coarse septa. The beta HCG level was 49,929.81 mUI/ml. She underwent median laparotomy for staging, with left adnexectomy plus resection of the retroperitoneal tumor and omentum, identifying stage IV. The histopathological examination concluded that it was a germ cell tumor of the ovary consisting of non-gestational choriocarcinoma. After being discharged from hospital, she underwent chemotherapy sessions. Subsequently, imaging showed nodules in both lungs, as well as expansive formations distributed in the liver parenchyma. In this context, pulmonary metastasectomy was performed months later. After this, new imaging tests were carried out to restage the disease and the following findings were seen: some residual pulmonary nodules and on the MRI of the skull, a sign of chronic hemorrhage. The patient's evolution was not favorable, her general condition worsened and she died one year after diagnosis. Conclusion: The aggressiveness of this disease is clear, especially in female pediatric patients, since early metastasis occurs in a significant percentage of cases, leading to an unfavorable prognosis.
El coriocarcinoma ovárico no gestacional es una presentación poco frecuente del cáncer de ovario, que afecta principalmente a mujeres prepúberes. Se considera una neoplasia agresiva y la expansión al pulmón es frecuente en alrededor del 80% de las pacientes, como en el caso siguiente. Informe del caso: Mujer de 12 años con hemorragia vaginal prolongada y distensión abdominal. La tomografía computarizada mostró una gran masa heterogénea, predominantemente quística, con múltiples septos gruesos. El nivel de beta HCG era de 49 929,81 mUI/ml. Se le practicó una laparotomía media para la estadificación, con anexectomía izquierda más resección del tumor retroperitoneal y del epiplón, identificándose un estadio IV. El examen histopatológico concluyó que se trataba de un tumor germinal de ovario consistente en un coriocarcinoma no gestacional. Tras el alta hospitalaria, se sometió a sesiones de quimioterapia. Posteriormente, el diagnóstico por imagen mostró nódulos en ambos pulmones, así como formaciones expansivas distribuidas en el parénquima hepático. En este contexto, meses más tarde se le practicó una metastasectomía pulmonar. Tras ésta, se realizaron nuevas pruebas de imagen para reestadificar la enfermedad y se observaron los siguientes hallazgos: algunos nódulos pulmonares residuales y, en la resonancia magnética del cráneo, una señal de hemorragia crónica. La evolución de la paciente no fue favorable, su estado general empeoró y falleció un año después del diagnóstico.Conclusión: Por lo tanto, es comprensible la agresividad de esta enfermedad, especialmente en las mujeres pediátricas, ya que en un porcentaje significativo de casos se producen metástasis tempranas, lo que conlleva un pronóstico desfavorable
Assuntos
Coriocarcinoma não Gestacional , Pediatria , NeoplasiasRESUMO
Choriocarcinoma is a highly malignant tumour emerging from the syncytiotrophoblast divided into gestational and non-gestational presentations. Primary choriocarcinoma of the mediastinum is rare. Metastases to the brain often occur; however, brainstem involvement has not been reported for non-gestational choriocarcinoma. We described a middle-aged man who developed a complete left oculomotor nerve paralysis secondary to a brainstem tumour at the midbrain. The workup for the primary source of the brainstem tumour included a chest CT scan, which revealed a mediastinal mass. A mediastinal mass needle biopsy confirmed the diagnosis of primary mediastinal choriocarcinoma. Despite aggressive chemotherapy, the patient died 6 months after the initial presentation from neurological complications and multiorgan failure.
Assuntos
Coriocarcinoma não Gestacional , Coriocarcinoma , Neoplasias do Mediastino , Tronco Encefálico/patologia , Coriocarcinoma/tratamento farmacológico , Coriocarcinoma não Gestacional/tratamento farmacológico , Coriocarcinoma não Gestacional/secundário , Feminino , Humanos , Masculino , Neoplasias do Mediastino/diagnóstico por imagem , Neoplasias do Mediastino/tratamento farmacológico , Mediastino/patologia , Pessoa de Meia-Idade , GravidezRESUMO
Extragonadal non-gestational choriocarcinoma (ENC) is an uncommon malignant tumor occasionally found in the gastrointestinal tract. ENC is characterized by a biphasic tumor growth with distinct areas of adenocarcinoma and choriocarcinoma differentiation. Primary choriocarcinoma of the colon is extremely rare, with only 21 cases reported in the literature. Most of the perforation of colorectal cancers occurs in the abdominal cavity, while abdominal wall abscess is rare; the psoas abscess associated with colon carcinoma is even less observed. Herein, we report the case of a 61-year-old female with poorly differentiated adenocarcinoma of the ascending colon and sigmoid, with choriocarcinomatous differentiation, masquerading a psoas abscess formation. Unfortunately, despite the aggressive therapy, the patient's disease rapidly progressed, and she died within 2 months after the diagnosis. The typical morphological pattern, immunohistochemistry, and its correlation with serum β-human chorionic gonadotropin enabled a correct diagnosis.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias Colorretais , Adenocarcinoma/diagnóstico , Abscesso do Psoas/diagnóstico , Colo , Coriocarcinoma não Gestacional , Coriocarcinoma , Parede Abdominal , Abscesso/diagnósticoRESUMO
Hyperthyroidism is a relatively frequent condition with multiple causes. The most common cause is Graves' disease; followed by hyperthyroid multinodular goiter and toxic adenoma. Association between hyperthyroidism and cancer is infrequent in daily practice. We present the case of a 42-year-old man who developed severe symptoms of hyperthyroidism within a period of two months. Physical examination revealed significant hepatomegaly. Testicular examination proved normal. Imaging studies showed the presence of multiple hepatic solid lesions consistent with metastases. After discarding the most common causes of hyperthyroidism and primary thyroid gland neoplasm, the possibility of molecular mimicry was considered through human chorionic gonadotrophin production. Critical high values of this hormone were found and choriocarcinoma histological diagnosis was confirmed through a liver biopsy. We consider that the recognition of this rare mechanism of hyperthyroidism may be a clue permitting a faster diagnosis, particularly when extragonadal tumors are present.
El hipertiroidismo es una condición relativamente frecuente con múltiples etiologías. La más común es la enfermedad de Graves, seguida del bocio multinodular y el adenoma tóxico. La asociación entre hipertiroidismo y cáncer es infrecuente en la práctica clínica. Presentamos el caso de un varón de 42 años con síntomas de hipertiroidismo de dos meses de evolución. Al examen físico se constató una marcada hepatomegalia de consistencia duro pétrea. El examen de testículos se reveló normal. Se llevó a cabo el diagnóstico de hipertiroidismo a través del dosaje hormonal. Los estudios por imágenes mostraron la presencia de múltiples lesiones sólidas compatibles con metástasis hepáticas. Luego de descartar las causas habituales de hipertiroidismo y las neoplasias primarias de la glándula tiroides, se consideró la posibilidad de mimetismo molecular a través de la producción ectópica de gonadotrofina coriónica humana. Se obtuvieron valores críticamente elevados de esta hormona y en un segundo tiempo se confirmó el diagnóstico histológico de coriocarcinoma a través de una biopsia hepática. Consideramos que el reconocimiento de este mecanismo poco frecuente de hipertiroidismo, puede ser una clave diagnóstica para arribar rápidamente al diagnóstico correcto, particularmente en los tumores extragonadales.
Assuntos
Coriocarcinoma não Gestacional/complicações , Hipertireoidismo/etiologia , Adulto , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/patologia , Coriocarcinoma não Gestacional/patologia , Gonadotropina Coriônica/sangue , Evolução Fatal , Humanos , Hipertireoidismo/patologia , Neoplasias Hepáticas/complicações , Neoplasias Hepáticas/patologia , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/patologia , Masculino , Tireotropina/sangue , Tomografia Computadorizada por Raios XRESUMO
El hipertiroidismo es una condición relativamente frecuente con múltiples etiologías. La más común es la enfermedad de Graves, seguida del bocio multinodular y el adenoma tóxico. La asociación entre hipertiroidismo y cáncer es infrecuente en la práctica clínica. Presentamos el caso de un varón de 42 años con síntomas de hipertiroidismo de dos meses de evolución. Al examen físico se constató una marcada hepatomegalia de consistencia duro pétrea. El examen de testículos se reveló normal. Se llevó a cabo el diagnóstico de hipertiroidismo a través del dosaje hormonal. Los estudios por imágenes mostraron la presencia de múltiples lesiones sólidas compatibles con metástasis hepáticas. Luego de descartar las causas habituales de hipertiroidismo y las neoplasias primarias de la glándula tiroides, se consideró la posibilidad de mimetismo molecular a través de la producción ectópica de gonadotrofina coriónica humana. Se obtuvieron valores críticamente elevados de esta hormona y en un segundo tiempo se confirmó el diagnóstico histológico de coriocarcinoma a través de una biopsia hepática. Consideramos que el reconocimiento de este mecanismo poco frecuente de hipertiroidismo, puede ser una clave diagnóstica para arribar rápidamente al diagnóstico correcto, particularmente en los tumores extragonadales.
Hyperthyroidism is a relatively frequent condition with multiple causes. The most common cause is Graves' disease; followed by hyperthyroid multinodular goiter and toxic adenoma. Association between hyperthyroidism and cancer is infrequent in daily practice. We present the case of a 42-year-old man who developed severe symptoms of hyperthyroidism within a period of two months. Physical examination revealed significant hepatomegaly. Testicular examination proved normal. Imaging studies showed the presence of multiple hepatic solid lesions consistent with metastases. After discarding the most common causes of hyperthyroidism and primary thyroid gland neoplasm, the possibility of molecular mimicry was considered through human chorionic gonadotrophin production. Critical high values of this hormone were found and choriocarcinoma histological diagnosis was confirmed through a liver biopsy. We consider that the recognition of this rare mechanism of hyperthyroidism may be a clue permitting a faster diagnosis, particularly when extragonadal tumors are present.
Assuntos
Humanos , Masculino , Adulto , Coriocarcinoma não Gestacional/complicações , Hipertireoidismo/etiologia , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/patologia , Tireotropina/sangue , Tomografia Computadorizada por Raios X , Evolução Fatal , Coriocarcinoma não Gestacional/patologia , Gonadotropina Coriônica/sangue , Hipertireoidismo/patologia , Neoplasias Hepáticas/complicações , Neoplasias Hepáticas/patologia , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/patologiaRESUMO
INTRODUCTION: Gestational (GC) (derived from the placenta) and non-gestational (NGC) choriocarcinomas are trophoblastic diseases originated from abnormal proliferation of trophoblastic cells. These rare tumors share similar morphology and pathological features and differ on chemotherapy response, genetic origin and prognosis. In this study, the genomic profile of choriocarcinomas was performed according to their origin (GC or NGC) aiming to better understand these poorly characterized diseases. METHODS: Thirteen patients were included in this study; 10 presented previous history of hydatidiform mole and six developed metastasis. Twelve polymorphic microsatellite markers (D15S659, APOC2, D5S816, BAT25, D3S1614, D3S1311, D1S1656, APC-D5S346, D3S1601, D18S70, D8S1110 and D11S1999) were investigated to distinguish GC from NGC. All choriocarcinomas were evaluated by copy number alterations using array CGH. RESULTS: Eight cases were classified as GC and five as NGC. Although potentially polymorphic, NGC exhibited significant gain of 21p11. Rare copy number alterations (CNA) were detected as a frequent event in GC including gains of 1p36.33-p36.32 (3 cases), 17q25.3 (4 cases), and losses of 9q33.1 (5 cases), 17q21.3 (3 cases) and 18q22.1 (4 cases) (varying from 724 to 3,053 Kb). DISCUSSION: Two tumor suppressor genes are candidates to be involved in GC: TRIM32 (9q33.1) and CDH19 (18q22.1). Gains of CBX2, CBX4 and CBX8 were frequently found in high risk prognostic score in GC. The in silico functional interaction analysis revealed the involvement of PTEN and PI3K-Akt signaling pathways. These data pointed out significant genomic alterations in GC, opening new avenues to better characterize the pathobiology of this disease.
Assuntos
Coriocarcinoma não Gestacional/genética , Coriocarcinoma/genética , Neoplasias Uterinas/genética , Adolescente , Adulto , Coriocarcinoma/patologia , Coriocarcinoma não Gestacional/patologia , Variações do Número de Cópias de DNA , Feminino , Genômica , Humanos , Pessoa de Meia-Idade , Gravidez , Transdução de Sinais/genética , Neoplasias Uterinas/patologia , Adulto JovemRESUMO
We present the case of a 21-year-old male patient who was diagnosed with metastatic brain choriocarcinoma after presenting with a spontaneous cerebral hemorrhage. The treatment performed for this patient was an open surgery with full excision of the lesion. It is known that this kind of tumor is usually found in women, with low incidence in men. With this information as a baseline, we found multiple pulmonary metastases and a primary pure choriocarcinoma in his testicle.
Apresentamos o caso de um paciente do sexo masculino, de 21 anos de idade, o qual foi diagnosticado com um coriocarcinoma cerebral metastático após apresentar uma hemorragia cerebral espontânea. O tratamento realizado para este paciente foi uma cirurgia aberta com excisão total da lesão. Sabe-se que este tipo de tumor é normalmente encontrado em mulheres, com baixa incidência no sexo masculino. A partir desta informação, encontramos múltiplas metástases pulmonares e um coriocarcinoma primário puro em seu testículo.
Assuntos
Humanos , Masculino , Adulto , Neoplasias Encefálicas , Coriocarcinoma não Gestacional , Metástase Neoplásica , Neoplasias Testiculares , Coriocarcinoma não Gestacional/cirurgiaRESUMO
Although well recognized in the literature, the contemporary clinicopathologic data regarding choriocarcinoma (CC) as a pure or the predominant component of a testicular germ cell tumor (GCT) are limited. Herein, we present a series of pure CC and predominant CC in mixed GCT of the testis obtained from a single oncology institution. A comprehensive histologic review of 1010 orchiectomies from 1999 to 2011 yielded 6 (0.6%) pure CC and 9 (0.9%) mixed GCT cases with a predominant CC component. Patients' ages ranged from 20 to 39 years (median 29 y). All patients had markedly elevated serum ß-hCG levels (median 199,000 IU/mL) at presentation. All tumors were unilateral and involved the right (9/15) and left (6/15) testis. The mean tumor size was 6.5 cm (range, 1.5 to 8 cm). Histology was similar for pure CCs and the CC component of mixed GCTs. CC commonly showed expansile hemorrhagic nodular cysts surrounded by variable layers of neoplastic trophoblastic cells (mononucleated trophoblasts and syncytiotrophoblasts). The syncytiotrophoblasts usually covered columns of mononucleated trophoblasts and occasionally formed plexiform aggregates and pseudovillous protrusions. Immunohistochemical stains suggested a mixture of cytotrophoblasts (p63+, HPL_) and intermediate trophoblasts (p63-, HPL weak +/-) in the columns of mononucleated cells. In the 9 mixed GCTs, CC comprised 50% to 95% (7/9 were ≥80% CC) of the tumor; 7 were combined with 1, and 2 were combined with 2 other GCT components. The non-CC components included teratoma (5/9), seminoma (2/9), yolk sac tumor (2/9), and embryonal carcinoma (2/9). Lymphovascular invasion, spermatic cord invasion, and tunica vaginalis invasion were present in 15/15, 5/15, and 1/12 cases, respectively. In mixed GCTs, these locally aggressive features were attributed to the CC component, except in 1 tumor in which it was also exhibited by the embryonal carcinoma component. Lymphovascular invasion was multifocal to widespread in 73% of tumors. The stages of the 15 tumors were: pT2 (10), pT3 (5); NX (1), N1 (4), N2 (5), N3 (5); and M1a (2) and M1b (13). Distant organ metastasis mostly involved the lungs (11) and liver (10). Follow-up information was available in 14 patients, all of whom received cisplatin-based chemotherapy. All 6 pure CC patients were dead of disease (range, 6 to 14 mo, median 9.5 mo). Follow-up of 8 patients with predominant CC (range, 10 to 72 mo, median 27 mo) showed that 5 died of the disease, and 1 was alive with disease and 2 were alive with no evidence of disease at 60 and 72 months of follow-up, respectively; these latter 2 patients were the only ones with M1a disease on presentation. This series confirms the proclivity for high-stage presentation including presence of distant metastasis, hematogenous spread, and poor outcome of testicular CC. Mixed GCT with a predominant CC component has similar tendency for high-stage presentation, marked elevation of serum ß-hCG levels, and aggressive behavior compared with pure CC. This study also showed that distant metastasis by CC when only involving the lungs (M1a) may not be uniformly fatal with chemotherapy. The mononucleated trophoblastic columns in testicular CC appear to be a mixture of cytotrophoblasts and intermediate trophoblasts, similar to that described in gestational CC.
Assuntos
Coriocarcinoma não Gestacional/patologia , Neoplasias Complexas Mistas/patologia , Neoplasias Testiculares/patologia , Adulto , Biomarcadores Tumorais/análise , Biópsia , Coriocarcinoma não Gestacional/química , Coriocarcinoma não Gestacional/mortalidade , Coriocarcinoma não Gestacional/secundário , Coriocarcinoma não Gestacional/terapia , Humanos , Imuno-Histoquímica , Metástase Linfática , Masculino , México , Invasividade Neoplásica , Estadiamento de Neoplasias , Neoplasias Complexas Mistas/química , Neoplasias Complexas Mistas/mortalidade , Neoplasias Complexas Mistas/secundário , Neoplasias Complexas Mistas/terapia , Neoplasias Testiculares/química , Neoplasias Testiculares/mortalidade , Neoplasias Testiculares/terapia , Resultado do Tratamento , Carga Tumoral , Adulto JovemRESUMO
We report a case of a young female patient presenting with a high serum beta-HCG levels, amenorrhea, nausea and anemia which mimicked pregnancy followed by upper gastrointestinal bleeding. A gastric tumor was shown on endoscopy. Histopathologic evaluation revealed Primary Gastric Choriocarcinoma (PGC). The patient was treated with three cycles of standard nongestational choriocarcinoma chemotherapy. Tumor persistence was evidenced by CT Scans and high serum beta-HCG levels. The patient died approximately six months after diagnosis. Our case report suggest that PGC is a highly aggressive tumor that is often associated with liver and lungs metastasis without evidence of pelvic organ abnormality and is associated with some hormonal effects, such as amenorrhea, anemia, nausea and vomiting mimicking pregnancy in young adult female