Disgerminoma ovariano na gestação: relato de caso / Ovarian dysgerminoma in pregnancy: a case report

Os disgerminomas são tumores malignos de células germinativas ovarianas, são raros, geralmente acometem mulheres em idade fértil e têm bom prognóstico e sobrevida elevada. Paciente de 20 anos, primigesta com 26 semanas de gestação, foi admitida no centro obstétrico da Fundação Hospitalar Santo Antônio em Blumenau- SC com quadro de dor abdominal intensa refratária à analgesia e desconforto respiratório. Ressonância magnética demonstrou derrame pleural, moderada ascite e volumosa lesão expansiva de aspecto sólido-cístico em anexo direito. Foram realizadas salpingo-oforectomia à direita e omentectomia parcial e coletado lavado peritoneal. Anatomopatológico evidenciou disgerminoma. A paciente seguiu acompanhamento gestacional nos serviços de pré-natal de alto risco e oncologia. Devido à imaturidade fetal, manteve-se conduta expectante e, após o parto normal com 37 semanas, foi realizado estadiamento e iniciada quimioterapia adjuvante. Devido à baixa incidência e à raridade de tumores de células malignas ovarianas, relatos de casos como este são importantes para discutir as melhores estratégias de manejo clínico.(AU)

Dysgerminomas are rare malignant ovarian germ cell tumors that generally affect adolescence and early adulthood, have a good prognosis and high survival. Patient 20 years old, gestation 1, at 26 weeks of gestation, was hospitalized at the obstetric center of Fundação Hospitalar Santo Antônio in Blumenau-SC, with severe abdominal pain refractory to analgesia and respiratory discomfort. Magnetic resonance showed pleural effusion, moderate ascites and a massive expansive lesion with a solid cystic aspect in the right ovary. Right salpingoophorectomy, partial omentectomy and peritoneal lavage were collected. Anatomopathological evidence showed dysgerminoma. Patient followed gestational follow-up at high-risk prenatal and oncology services. Due to fetal immaturity, expectant management was maintained and after vaginal delivery at 37 weeks, staging was performed and adjuvant chemotherapy was started. Due to the low incidence and rarity of ovarian malignant cell tumors, case reports such as this one are important to discuss the best clinical management strategies.(AU)

Sacrococcygeal teratoma: evaluation of its approach, treatment and follow-up in two reference children cancer centers in Brazil / Rio de Janeiro / Teratoma sacrococcígeo: avaliação de abordagem, tratamento e seguimento em dois centros de referência do estado do Rio de Janeiro

ABSTRACT Introduction: sacrococcygeal teratoma (TSC) is the most common tumor of the neonatal period. Alphafetoprotein is an important tumor marker and is used in the follow-up period as a marker of malignancy. The complete surgical resection of the tumor associated with coccygectomy is the standard treatment and chemotherapy in different stages are necessary. Follow-up consists of serial exam: tumor markers, imaging searching to possible metastasis sites, in addition to a complete physical examination. Methodology: a descriptive, retrospective, study was carried out by analyzing a chart of 25 patients of two different reference children cancer center; with TSC in the State of Rio de Janeiro from 2004 to 2019. The clinical and epidemiological data collected were described and a comparison was made between these two centers studied. Results: the sociodemographic characteristics found were similar to those described in the medical literature. Data related to treatment and follow-up, such as the use of chemotherapy, use of specific imaging tests, digital rectal examination, and outpatient follow-up, differed between the two centers studied. There was a 25% loss of follow-up. Conclusion: the characteristic of being a non-cancer center can interfere with the full application of the current protocol for the treatment of sacrococcygeal teratoma. The knowledge of the data of the studied cases can allow the optimization of the approach of the patients with this pathology and generate discussions about the integral application of the specific therapeutic protocol in the medical centers that are qualified for such treatment.

RESUMO Introdução: teratoma sacrococcígeo é o tumor neonatal mais comum. Alfafetoproteína é um marcador tumoral importante e é utilizado no período de seguimento como um marcador de malignidade. A ressecção cirúrgica completa do tumor associado a coccigectomia é o tratamento padrão, associado a quimioterapia em determinados estadiamentos. Exames de seguimento consistem em avaliação de marcadores tumorais, investigação de sítios de metástases, além de um completo exame físico. Metodologia: foi realizado um estudo retrospectivo descritivo, através da análise de 25 pacientes em dois centros de referência em tratamento oncológico infantil, com teratoma sacrococcígeo no Estado do Rio de Janeiro, entre 2004 e 2019. Os dados clínicos e epidemiológicos foram descritos, comparando-se os dois centros. Resultados: as características socio-demográficas foram similares ao descrito na literatura médica. Os dados relativos ao tratamento e seguimento, como o uso de quimioterapia, uso de testes de imagem específicos, exame de toque e retal e seguimento ambulatorial, foi diferente entre os dois centros. Tivemos uma perda de seguimento de 25%. Conclusão: a característica de ser um centro não oncológico pode interferir com a aplicação do protocolo de tratamento de teratoma sacrococcígeo. O conhecimento dos dados estudados pode permitir a otimização da abordagem dos pacientes com esta patologia e gerar discussões sobre a aplicação integral dos protocolos terapêuticos em centros médicos que são qualificados para tal tratamento.

Tumor del saco vitelino primario de vagina en una niña. A propósito de un caso / Primary vaginal yolk sac tumor in a girl. Case report

Las neoplasias ginecológicas en niñas son raras. Representan menos del 5 % de todos los cánceres en pediatría. No existen estadísticas sobre la incidencia de tumores de vagina en esta etapa de la vida. Se presenta el caso de una niña de 9 meses con sangrado por genitales. La ecografía evidencia una masa sólida en vagina, y la vaginoscopia, un tumor friable. Presenta valores de α-fetoproteína elevados, por lo que se diagnostica tumor de saco vitelino, confirmado por biopsia. Se realiza tratamiento quimioterápico. A menos de 1 año del diagnóstico, se encuentra en remisión completa. Este caso resulta de interés no solo por la rareza, sino también porque el diagnóstico rápido de tumor de saco vitelino permite mejorar los resultados y la sobrevida de las pacientes

Gynecological neoplasms in girls are rare and represent only less than 5 % of all childhood tumors. There are no statistics on the incidence of vaginal tumors at this stage in life. We present a 9-month-old girl evaluated for genital bleeding. Ultrasound reveals a vaginal solid mass and vaginoscopy reports a friable tumor. AFP is elevated. A yolk sac tumor is confirmed by biopsy she receives chemotherapy. Within a year after diagnosis, she remains tumor-free. This is a case of interest, not only because of its rarity, but also because a rapid diagnosis of a yolk sac tumor improves outcomes and patient's survival rates.

Tumores ováricos en pediatría: revisión de los casos en un servicio de pediatría durante 10 años / Pediatric ovarian tumors: a 10-year review in a pediatric service

Los tumores ováricos, a diferencia de lo que sucede en la edad adulta, son infrecuentes en la población pediátrica. Predomina la estirpe germinal, con altas tasas de supervivencia. El objetivo de este estudio es presentar la epidemiología, clínica, diagnóstico y tratamiento de las pacientes de 0-15 años con diagnóstico, entre 2007 y 2017, de tumor ovárico en nuestro centro. Fueron 8 los casos encontrados de 171 tumores diagnosticados (el 4,7 %), con edad media de presentación de 12,5 años. Predominaban, al momento del debut, alteraciones menstruales, dolor abdominal y aumento de perímetro abdominal. Fueron de tipo germinal 6/8, y el teratoma maduro fue el más frecuente. Todas se diagnosticaron con ecografía abdominal, y se confirmó el diagnóstico en 7/8 con resonancia magnética. Se intervinieron todos los casos; predominó la salpingo-ooforectomía, y una paciente precisó quimioterapia adyuvante. La supervivencia libre de enfermedad fue del 100 %.

Unlike adults, ovarian tumors are infrequent in the pediatric population, predominating the germ line at this age, with high survival rates. The objective is to present the epidemiological, clinical, diagnosis and therapeutic characteristics of 0 to 15-year-old patients diagnosed with ovarian tumor in our center between 2007 and 2017.Eight cases out of 171 diagnosed tumors (4.7 %) were found, with a mean age of presentation of 12.5 years. At the moment of diagnosis, menstrual disturbances, abdominal pain and an increase in abdominal circumference predominated. Six out of eight were germ cell tumors, being the mature teratoma the most frequent one. All cases were diagnosed with abdominal ultrasound scan, confirmed in 7/8 cases with magnetic resonance imaging. All cases underwent surgery, predominating salpingo-oophorectomy with one patient requiring adjuvant chemotherapy. Disease-free survival was 100 %.

Seminoma clásico extragonadal en estadio III / Classical extragonadal seminoma in stage III

Resumen Histológicamente, los tumores testiculares de células germinales pueden clasificarse como tumores de tipo no seminoma y seminoma. De este último se reconocen tres variantes: "anaplásica", "espermatocítica" y "clásica", la cual puede ser gonadal o extragonadal. En este subtipo el tumor tiene origen en las células germinales, aunque no inicia en las gónadas sino en otras regiones anatómicas como el mediastino o el retroperitoneo. Presentamos el caso de un paciente de 19 años quien inicialmente presentó un cuadro clínico compatible con síndrome de vena cava superior y trombosis yugular. El diagnóstico de la neoplasia se obtuvo mediante biopsia por toracotomía.

Abstract Histologically, germ cell testicular tumors can be classified as nonseminoma and seminoma tumors. Of the latter, three variants are recognized: "ana plastic", "spermatocytic" and "classical", which may be gonadal or extrago nadal. In this subtype, the tumor originates in the germ cells, although it does not start in the gonads but in other anatomical regions such as the mediastinum or the retroperitoneum. We present a case of a 19-year-old patient who initially presented clinical sintomatology compatible with su perior vena cava syndrome and jugular thrombosis. The diagnosis of the neoplasm was obtained by thoracotomy biopsy.

Síndrome de Klinefelter diagnosticado en un adulto a raíz del estudio de infección respiratoria recurrente y masa mediastínica: caso clínico / Thymoma in a patient with klinefelter syndrome: case report

Klinefelter syndrome (47, XXY in most cases) is a frequently underdiagnosed chromosomal anomaly associated with multiple comorbidities in adult life. Patients with Klinefelter syndrome have a higher risk of cancer. Specifically, these patients have a higher risk for mediastinal germ cell tumors. It is estimated that 8% of male patients with mediastinal tumors have Klinefelter. We report a 42-years-old male who suffered recurrent respiratory infections. During the study, a mediastinal mass was found, whose pathological study disclosed a type B thymoma. The patient had a history of infertility, high stature, gynecomastia, obesity with gynecoid distribution of body fat and testicular atrophy. A karyotype was requested (47, XXY), confirming the diagnosis of Klinefelter syndrome.

Tumor de células germinales primario de mediastino (seminoma de mediastino) / Cell Germ primary tumor of mediastinum (seminoma of mediastinum)

RESUMEN Fundamento: el tumor de células germinales de mediastino anterior, es una formación de células neoplásicas localizada en mediastino. Se forman por defectos congénitos en la etapa embrionaria por migración de la célula germinal primordial y derivan de células que están dentro de las gónadas (germinales), pueden migrar y localizarse fuera de estas (extra gonadal) como el caso que se presentó, y situarse en mediastino anterior (seminoma). La localización más reportada de los extra gonadales es en mediastino anterior. Objetivo: describir un enfermo con tumor primario de células germinales del mediastino anterior. Caso clínico: paciente de 23 años de edad, masculino, con antecedentes de asma bronquial, acudió al cuerpo de guardia con tos seca y frecuente, pérdida de peso de 7 kg en un mes y fiebre de 38˚C hace dos días. Al examen físico, ligera palidez cutáneo mucosa, murmullo vesicular abolido en hemitórax derecho sin estertores. Después de estudios analíticos, radiografía de tórax, tomografía axial computarizada de pulmón y estudio histológico, se concluyó como neoplasia de células germinales primitiva extra gonadal de mediastino anterior. Conclusiones: la localización más frecuente de los tumores de células germinales de mediastino, extragonadal, es mediastino anterior. Son los tumores sólidos de mediastino más frecuentes en varones y afecta entre los 20 y 40 años de edad, hecho infrecuente en la práctica clínica.

ABSTRACT Background: the anterior mediastinal germ cell tumor is a formation of neoplastic cells located in the mediastinum. They are formed by congenital defects in the embryonic stage by migration of the primordial germ cell and dermal cells that are within the gonads (germinal), being able to migrate and localize outside of these (extra gonadal) as the case presented, and to be located in the anterior mediastinum (Seminoma). The most reported location of the extra gonadal is in the anterior mediastinum. Objective: to describe a patient with primary tumor of germ cell of the anterior mediastinum. Clinical case: a 23-year-old male patient with a history of bronchial asthma attended the emergency room with a dry, frequent cough, weight loss of 7 kg in one month and fever of 38˚C for 2 days. At physical examination, slight mucous skin pallor, vesicular murmur abolished in right hemi-thorax without rales. After analytical studies, chest x-ray, computerized lung tomography and histological study, it was concluded as primitive extra-gonadal germ cell neoplastic of anterior mediastinum. Conclusions: the most frequent location of mediastinal germ cell tumors, extra-gonadal, is anterior mediastinum. They are the most frequent mediastinal solid tumors in men and affect between 20 and 40 years of age; being the case that occupies a male patient of 23 years, uncommon in clinical practice.

Supposed pituitary-production of human chorionic Gonadotropin induced by androgen deprivation therapy

ABSTRACT Introduction: The main cause of slightly elevated human chorionic gonadotropin (HCG) after successful treatment of male germ cell tumors is considered to be pituitary-derived HCG. It is well known that pituitary-derived HCG is frequently detected in postmenopausal women. We evaluated the status of serum HCG in men with elevated gonadotropins, which were induced by androgen deprivation therapy, using commercially available assays. Materials and Methods: We enrolled 44 patients with prostate cancer, who underwent luteinizing-hormone releasing hormone agonist treatment. We measured serum follicle-stimulating hormone (FSH), serum luteinizing hormone (LH), serum total HCG, serum free HCG-β subunit, and urine total HCG 3 times per patient, on the day of treatment initiation, the next day, and 3 months after. Results: On the day after treatment initiation, serum and urine HCG was detected in 61% and 73% of patients, respectively. Markedly strong correlations were observed between serum/urine HCG and FSH/LH. In particular, receiver operating characteristic curve analysis indicated excellent area under the curve (0.977, 95% confidence interval 0.951-1.003)) for serum HCG-detectable LH. At the cutoff value of 21.07 mIU/mL for serum HCG-detectable LH, the sensitivity and specificity were 96.7% and 95.3%, respectively. Serum HCG-β was not detectable at any times in any patients. Conclusions: Suggested pituitary-derived HCG can be frequently detected in patients with elevated gonadotropins, and there is a firm association between HCG detection and gonadotropin levels.

Tumor ovárico del seno endodérmico (Yolk Sac). Dolor abdominal en el puerperio inmediato como síntoma diagnóstico / Endodermal sinus ovarian tumor (Yolk Sac). Abdominal pain in the immediate puerperium as a diagnostic symptom

RESUMEN Los tumores del seno endodérmico ovárico (Yolk Sac), son neoplasias malignas de origen germinal, que se caracterizan por su diferenciación embriológica a partir de estructuras del saco vitelino. Son tumoraciones muy infrecuentes, de crecimiento rápido y que suelen desarrollarse en adolescentes y mujeres jóvenes, en edad reproductiva. Su diagnóstico se basa en la combinación de pruebas de imagen asociado a niveles plasmáticos elevados de marcadores tumorales como la alfafetoproteína. El manejo terapéutico es eminentemente quirúrgico (pudiendo ser conservador en pacientes con deseo genésico no cumplido), asociado a pautas de quimioterapia sistémica combinada con bleomicina, etopósido y platino. Exponemos el caso de una paciente que en el puerperio tardío, presenta un cuadro clínico de dolor, distensión abdominal y fiebre, siendo diagnosticada tras el tratamiento quirúrgico y el estudio histológico posterior, de un tumor del seno endodérmico ovárico.

ABSTRACT Ovarian endodermal sinus tumors (Yolk Sac), are malignant neoplasms of germinal origin, which are characterized by their embryological differentiation from yolk sac structures. These tumors are very infrequent, of rapid growth and tend to develop in adolescents and young women of reproductive age. Its diagnosis is based on the combination of imaging tests associated with high plasma levels of tumor markers such as alpha-fetoprotein. The therapeutic management is eminently surgical (with a more conservative approach reserved for patients still considering later pregnancy), associated with patterns of systemic chemotherapy combined with bleomycin, etoposide and platinum. We present the case of a patient who, in the late puerperium, presents symptoms of pain, abdominal distension and fever, being diagnosed after the surgical treatment and the subsequent histological study of a tumor of the endodermal ovarian sinus.

Yolk sac primary tumor of mediastino: a rare case in a young adult / Tumor de saco vitelínico primário do mediastino: raro caso em um adulto jovem

ABSTRACT Germ cell tumors are rare neoplasms that mostly occur in the gonads, although they can also affect other body sites, especially the anterior mediastinum (50 to 70% of all extragonadal germ cell tumors). We report a case of a primary mediastinal yolk sac tumor, a rare and aggressive germ cell tumors subtype. This was a 38-year-old man who was admitted to Hospital do Servidor Público Estadual "Francisco Morato de Oliveira", complaining about dyspnea and dry cough for 1 year. The computed tomography scan of his chest revealed a large mass in the anterior mediastinum with heterogeneous enhancement to the contrast associated with pleural effusion. There were also high serum levels of alpha-fetoprotein. After neoadjuvant chemotherapy, the patient underwent surgical resection of the mass, followed by pathological examination, which confirmed a primary mediastinal yolk sac tumor, a nonseminomatous subtype of germ cell tumors. Primary mediastinal yolk sac tumors have poor prognosis, despite advances in therapy with surgical resection and cisplatin-based chemotherapy. This poor prognosis is due to the degree of invasion and unresectability in most patients by the time of the diagnosis.

RESUMO Os tumores de células germinativas são neoplasias raras que acometem mais frequentemente as gônadas, embora possam também ocorrer em outras localizações do corpo, destacando-se o mediastino anterior (50 a 70% de todos os tumores de células germinativas extragonadais). No presente artigo, relatamos um caso de tumor de saco vitelínico mediastinal primário, de subtipo raro e agressivo de tumor de células germinativas. Tratava-se de um homem, 38 anos, admitido no Hospital do Servidor Público Estadual "Francisco Morato de Oliveira", com quadro de dispneia e tosse seca há 1 ano. Na investigação clínica, foi solicitada tomografia computadorizada de tórax, que mostrou volumosa massa no mediastino anterior com realce heterogêneo ao meio de contraste associada a derrame pleural. Havia ainda aumento dos níveis séricos da alfafetoproteína. Após quimioterapia neoadjuvante pré-operatória, o paciente foi submetido à ressecção cirúrgica, seguida de estudo anatomopatológico da peça, no qual demonstrou tratar-se de um tumor de saco vitelínico primário do mediastino. Os tumores de saco vitelínicos primários do mediastino têm prognóstico reservado, apesar do avanço na terapêutica com a ressecção cirúrgica e a quimioterapia à base de cisplatina. Isto se deve ao grau de invasão e de irressecabilidade na maioria dos pacientes no momento do diagnóstico.

Clinicopathologic features and expression of OCT4 protein in testicular diffuse large B cell lymphoma / 中华病理学杂志

Objective@#To evaluate the expression of OCT4 and SALL4 in testicular diffuse large B-cell lymphoma (DLBCL), and the utility of an immunohistochemical (IHC) panel of OCT4, SALL4 and CD20 in the differential diagnosis of DLBCL and GCT of the testis.@*Methods@#Eighteen cases of testicular DLBCL were selected.IHC method was used to detect the protein expression of CD20, CD3, CD5, CD10, bcl-6, MUM1, Ki-67, bcl-2, c-MYC, OCT4 and SALL4.@*Results@#Among the 18 cases, CD20 and PAX5 were strongly and diffusely expressed in all cases, while CD21, CD3, cyclinD1, SALL4, CD117 and PLAP were all negative. CD5, bcl-2 and c-myc were expressed in 3, 16 and 8 cases, respectively. Ki-67 proliferation index ranged from 40%-95%. Bcl-2 and c-MYC were co-expressed in seven cases. Four cases were GCB-DLBCL and the remaining 14 cases were non-GCB-DLBCL, according to Hans algorithm. Nuclear OCT4 expression was present in two cases, which demonstrated moderate expression in >50% of neoplastic cells. Univariate analysis showed that clinical stage, CD5 and OCT4 expression were relevant to prognosis. Multivariate Cox regression analysis further confirmed that clinical stage, CD5 and OCT4 were independent prognostic factors in patients with testicular DLBCL.@*Conclusions@#Care should be exercised in using OCT4 as the sole marker of germ cell differentiation in the testis. The association of OCT4 and CD5, bcl-2 co-expression raises the question of whether OCT4 expression in DLBCL may reflect more aggressive biology.

Clinical diagnostic value of serum β-hCG and AFP in mediastinal germ cell tumor / 中华检验医学杂志

Objective To explore the clinical diagnostic value of serum human chorionic gonadotropin beta subunit (β-HCG) and alpha fetoprotein ( AFP) in mediastinal germ cell tumors .Methods A retrospective analysis was conducted on the patients who were definitely diagnosed as mediastinal tumors or mediastinal neoplastic lesions .A total of 133 patients were included for analysis between January 2008 and May 2014, divided into two groups.42 cases of mediastinal germ cell tumor patients were marked as case group while 91 cases of other mediastinal tumor or mediastinal neoplastic lesion patients were marked as control group ( including 31 cases of thymoma , 10 cases of mediastinal neurogenic tumor , 2 cases of intrathoracic goiter , 25 cases of mediastinal cyst , 2 cases of mediastinal lipoma , 11 cases of mediastinal lymphoma and 10 cases of thymic carcinoma ) .AFP was detected by chemiluminescence detection , and -HCG was detected by electrochemical luminescence .K-S test was performed to investigate normality of data , non-normally distributed data were described as Median ( interquartile range ) .Mann-Whitney U test was done for measurement of data between two groups .Logistic regression analysis was performed as multivariate analysis.Receiver operating characteristic curve ( ROC) was used to determine the cut-off values.Results The levels of serum AFP and β-HCG in case group were 13.26 (2.39-48.09) ng/ml and 1.99 (0.10-15.7) IU/L, respectively, significantly higher than those in control group [AFP:2.47 (1.78-3.16) ng/ml,β-HCG:0.10 (0.10-0.55) IU/L].The difference of levels of AFP and β-HCG between the case group and the control group were statistically significant ( P=0.000 ) .There were no significant difference when it comes to β-HCG between the case group and intrathoracic goiter patients in control group .Apart from it, the difference of levels of AFP and β-HCG between the case group and every single control group were statistically significant .Cut-off values of AFP and β-HCG for distinguishing mediastinal germ cell tumors from mediastinal tumors were 5.07 ng/ml and 2.32 IU/L.In this scenario, for AFP and β-HCG, sensitivity were 57.1%and 50%, specificity were 97.8%and 96.7%, accuracy were 54.9%and 46.7%, area under the curve ( AUC ) were 0.773 and 0.755, positive likelihood ratios were 26.00 and 15.17respectively.Parallel experiments contributed to increase the sensitivity to 71.4%. Predictive probability (P) =1/[1+exp ( -0.319AFP-0.253HCG+2.850)] was obtained by logistic regression model.When cut-off value of predictive probability ( P ) was 0.30, specificity, AUC, and positive likelihood ratio were increased to 98.9%, 0.835 and 65.00respectively, negative likelihood ratio was decreased to 0.29, positive predictive value and negative predictive value were increased also (96.8%and 88.2%respectively).Conclusion Serum β-HCG, AFP and predictive probability ( P ) is valuable in the diagnosis of mediastinal germ cell tumor .

Exuberant Vasculoconnective Component in Mediastinal Mixed Germ Cell Tumors

We aimed to evaluate the histologic components of primary mediastinal mixed germ cell tumors. A total of 221 patients diagnosed with a mediastinal germ cell tumor (GCT) were retrospectively reviewed. Among them, 14 patients underwent surgical resection after chemotherapy and 8 patients were diagnosed with mixed GCT, who were then selected for further evaluation. Clinical chart review and histologic review of biopsy and surgical specimens of 8 patients were performed. All 8 patients were young males and showed a mature teratoma or a mature teratoma with a focal immature teratoma in the resected specimens. Serum alpha-feto protein was variably elevated. Seven patients experienced an increase in tumor size after the chemotherapy. In 5 patients, a variable amount of vasculoconnective tissue was found along with the mature teratoma occupying average 66.3% of resected mass, and 3 of them showed an identical vasculoconnective component on biopsy before chemotherapy. We suggest that vasculoconnective tissue might be the intrinsic component of primary mediastinal mixed GCT. When vasculoconnective tissue is obtained on small biopsy of an anterior mediastinal mass of a young male, the possibility of underlying mixed GCT should be considered and further clinical work up should be performed.

Umbilical KeyPort bilateral laparoscopic orchiectomy in patient with complete androgen insensitivity syndrome

MAIN FINDINGS: A 22-year-old woman with complete androgen insensitivity syndrome (CAIS) presenting with primary amenorrhea and normal female external genitalia was referred for laparoscopic gonadectomy. She had been diagnosed several years earlier but was reluctant to undergo surgery. CASE HYPOTHESIS: Diagnosis of this X-linked recessive inherited syndrome characterizes by disturbance of virilization in males with an AR mutation, XY karyotipe, female genitalia and severely undescended testis with risk of malignization. The optimal time to orchidectomy is not settled; neither the real risk of malignancy in these patients. Early surgery impacts development of a complete female phenotype, with enlargement of the breasts. Based on modern diagnostic imaging using DCE-MRI and surgical technology with single port laparoscopic access we hypothesize that the optimum time for gonadectomy is not at the time of diagnosis, but once feminization has completed. PROMISING FUTURE IMPLICATIONS: An umbilical laparoendoscopic single-site access for bilateral gonadectomy appears to be the first choice approach as leaves no visible incision and diminishes the psychological impact of surgery in a patient with CAIS absolutely reassured as female. KeyPort, a single port access with duo-rotate instruments developed by Richard Wolf facilitates this surgery and allows excellent cosmetic results.

Clinical analysis of 15 cases of malignant ovarian germ cell tumors with lung metastasis / 中华妇产科杂志

Objective To investigate the clinical characteristics,diagnosis,treatment and prognosis of malignant ovarian germ cell tumors(MOGCT)with lung metastasis.Methods Fifteen patients of MOGCT with lung metastasis treated in Peking Union Medical College Hospital from Jan.1982 to Dec.2010 was retrospectively analyzed.Results(1)Clinical characteristics: the average onset age of these 15 patients is(23 ± 11)years old(6-48 years).The majority of these patients presented with abdominal pain(8/15)or irregular vaginal bleeding(4/15)as their initial symptoms.The primary tumor located in the left ovary in 8 cases,right ovary in 6 cases,and both sides in only 1 case.Metastatic lesions were confined to the lung in 12 patients,while the other 3 patients were found to have multi-site distant metastasis.(2)Diagnosis:all 15 cases included 9 pure non-gestational ovarian choriocarcinoma(NGOC),3 MOGCT containing choriocarcinoma component(one mature teratoma with choriocarcinoma component,one endodermal sinus tumor with embryonal carcinoma and choriocarcinoma components,one choriocarcinoma with dysgerminoma component),2 embryonal carcinoma,one immature teratoma.Only one patient in these 15 cases was correctly diagnosed before surgery.(3)Time of lung metastasis: of 12 MOGCT with choriocarcinoma component,11 patients were found to have lung metastasis in the course of their primary treatment,only 1 had lung metastasis 2 months after the synthetic treatment finished.Three MOGCT patients without choriocarcinoma component were all found to have lung metastasis when tumor relapsed in the advanced stages of the disease.(4)Treatment:all 15 patients received multi-agent chemotherapy combined with surgery.The mean courses of chemotherapy for these patients were 16 courses(5-43 courses).(5)Prognosis:of these 15 cases,complete remission was obtained in 10 patients of NGOC or mixed ovarian germ cell tumors with choriocarcinoma component,3 patients(one NGOC,one endodermal carcinoma and one immature teratoma,respectively)died in the course of treatment as result of tumor progression,2 progressed cases(one NGOC and one endodermal carcinoma respectively)abandoning therapy were lost to follow up.Conclusions MOGCT with lung metastasis are more often to found in NGOC patients.These patients could obtain high complete remission rate after standard multi-agent chemotherapy combined with surgery.The prognosis of MOGCT with lung metastasis containing choriocarcinoma component are better than that of those without containing choriocarcinoma component.

Intramedullary tumors of embryonal origin / 中国医师进修杂志

Objective To study the characteristics of intramedullaiy tumors of embryonal origin, surgical treatment and outcome. Methods The data of 26 cases with intramedullary tumors of embryonal origin, including clinical features, pathological types and imaging characters of the tumor, surgical treatment and outcome, were retrospectively summarized. Among the 26 patients, apart from the neurological symptoms, lower-extremity deformities were seen in 7 cases, scoliosis in 1 case, lower midline cutaneous abnormalities in 3 cases. The tumors involving lumber section of the spinal cord (thoracolumbar + lumbar segments + lumbosacral) in 21 cases, account for 80.8% (21/26). The tumor in different kinds had its characteristic MRI appearance. All of the 26 patients underwent surgical treatment. Subtotal resection of the tumor was performed in 19 cases, most partial resection in 5 cases, partial removal in 2 cases. Results Of the 26 patients, 25 patients had improved neurologically when leaving hospital. Twenty-one patients were followed up from 6 to 82 (30.0 ± 8.2) months, 12 patients had a good recovery without any neurological defect, 7 patients could live independently, 1 patient needed care offered by others, 1 patient with malignant teratoma died at 6 months after operation. In the follow-up period, no patient needed the second surgery for recurrent tumor. Conclusions Apart from the neurological symptoms, other abnormalities such as lower-extremity deformities, scoliosis, lower midline cutaneous abnormalities could be appeared in patients with intramedullary tumors of embryonal origin. Most tumors involving lumber section of the spinal cord, could be diagnosed by MRI. Other spinal abnormalities frequently occur with the tumors. It is difficult to remove the tumors totally, while the surgical outcome is satisfactory.

Improved Outcome of Central Nervous System Germ Cell Tumors: Implications for the Role of Risk-adapted Intensive Chemotherapy

To determine the impact of treatment protocols on the outcome of central nervous system germ cell tumors (CNS-GCTs), we reviewed the medical records of 53 patients who received front-line chemotherapy from September 1997 to September 2006. Pure germinoma, normal alpha-fetoprotein level and beta-human chorionic gonadotropin level <50 mIU/mL were regarded as low-risk features and the others as high-risk. Patients from different time periods were divided into 3 groups according to the chemotherapy protocols. Group 1 (n=19) received 4 cycles of chemotherapy comprising cisplatin, etoposide and bleomycin. Group 2 (n=16) and group 3 (n=18) received 4 cycles of chemotherapy with cisplatin, etoposide, cyclophosphamide and vincristine in the former and with carboplatin, etoposide, cyclophosphamide and bleomycin in the latter. In group 2 and group 3, high-risk patients received double doses of cisplatin, carboplatin and cyclophosphamide. Radiotherapy was given after chemotherapy according to the clinical requirements. The event-free survivals of groups 1, 2, and 3 were 67.0%, 93.8%, and 100%, respectively (group 1 vs. 2, P=0.06; group 2 vs. 3, P=0.29; group 1 vs. 3, P=0.02). Our data suggest that risk-adapted intensive chemotherapy may improve the outcome of patients with malignant CNS-GCTs.

Disgerminoma cerebral / Intracranial dysgerminoma

Disgerminoma cerebral é um raro tumor de células germinativas que se origina em um sítio extragonadal. Representa aproximadamente 3% dos tumores intracranianos em crianças abaixo de 15 anos (STROTHER et al., 2002). Por razões ainda desconhecidas, esses tumores são mais frequentes em países asiáticos, onde perfazem 12% dos tumores intracranianos (KNIERIM et al., 2003). O pico de incidência do tumor está entre 10 e 14 anos, e a localização pineal é mais frequente nos homens, enquanto a supra-selar acomete mais as mulheres. Relato de caso de um paciente de 19 anos que há 2 anos apresentava diplopia e parestesia fugaz de mão esquerda. Realizou Ressonância Magnética do Crânio que identificou lesões nodulares no mesencéfalo à direita e em região talâmica bilateral. O diagnóstico histológico foi retardado em função do uso de corticóide, que promoveu uma redução da lesão impedindo acesso a biópsia. Após suspensão da corticoterapia e recrescimento das lesões, foi realizada biópsia com a confirmação, por imunohistoquímica, de um disgerminoma cerebral. O paciente foi submetido à radioterapia cranioespinhal, e uma nova ressonância magnética demonstrou resposta completa ao tratamento efetuado.

Intracranial Dysgerminoma is a rare extragonadal germ cell tumor which originates itself at a extragonadal site. It represents approximately 3 percent of intracranial tumors in children under the age of 15. For unknown reasons, these tumors are more frequent in Asian countries, where they account for 12 percent of intracranial neoplasms. They show a peak in incidence between 10 and 14 years of age with a male predominance. We have reported a case of a 19 year-old patient who had been showing signs of diplopia and transitory parestesia of the left hand. He underwent brain magnetic resonance which identified nodule lesions in the right mesencephalus and in the bilateral thalamic region as well. The histologic diagnosis was delayed due to the use of corticoid which contributed to the lesion reduction preventing access to the biopsy. After the interruption of the corticotherapy and injury regrowth, a biopsy was performed with the confirmation, by means of immunohistochemistry, of a brain disgerminoma. The patient was submitted to a craniospinal radiotherapy, and a new magnetic resonance indicated a complete answerto the treatment.

Coriocarcinoma primário de ovário: relato de um caso em paciente de 10 anos de idade / Primary ovarian choriocarcinoma: case report in a 10-year-old patient

O coriocarcinoma primário de ovário é um tumor raro que se origina de células germinativas, apresentando-se, na maioria das vezes, associado a outros tumores também de origem de células germinativas. Será descrito um caso de coriocarcinoma primário de ovário em uma menina de 10 anos que apresentava um quadro de sangramento vaginal e distensão abdominal. Após serem dosados os marcadores tumorais, que mostraram níveis de beta-HCG (gonadotrofina coriônica humana) e CA-125 altos, e alfafetoproteína normal, e ser realizado ultrassonografia abdominal, a paciente foi submetida a tratamento cirúrgico. O exame histopatológico da peça cirúrgica e a imunohistoquímica foram compatíveis com diagnóstico de coriocarcinoma primário de ovário. Depois da cirurgia, apaciente evoluiu mal, indo a óbito no primeiro dia de pós-operatório devido a uma embolia tumoral pulmonar. Concluiu-se, então, que essa neoplasia é bastante agressiva, causando metástase precoce na maioria dos casos e apresentando prognóstico desfavorável, principalmente em jovens abaixo de 20 anos de idade.