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)

Hipercalcemia en paciente pediátrica con disgerminoma ovárico: a propósito de un caso / Hypercalcemia in a pediatric patient with ovarian dysgerminoma: A case report

La hipercalcemia asociada a tumores malignos es una entidad poco frecuente en pediatría (0,5-1,3 % de los cánceres pediátricos). Es causada por diferentes mecanismos fisiopatológicos y los síntomas de presentación suelen ser inespecíficos, pero potencialmente graves. Presentamos un caso clínico de una paciente de 12 años con diagnóstico de disgerminoma ovárico bilateral. La enfermedad se presentó con hipercalcemia grave, tratada con hiperhidratación asociada a diuréticos de asa, bifosfonatos y, por último, la resección quirúrgica del tumor, que permitió la resolución definitiva del cuadro. A pesar de tratarse de un trastorno hidroeléctrico poco habitual en pediatría, dada la potencial gravedad de la hipercalcemia, es importante la detección y el tratamiento tempranos, con el fin de evitar complicaciones en el corto y el largo plazo

Hypercalcemia associated with malignant tumors is a rare entity in pediatrics (0.5-1.3 % of pediatric cancers). It responds to different pathophysiological mechanisms and the typical symptoms shown are usually nonspecific, but potentially serious. We present a clinical case of a 12-year-old patient with a bilateral ovarian dysgerminoma who was diagnosed with severe hypercalcemia at the onset, which required hyperhydration associated with loop diuretics, bisphosphonates and, eventually, the tumor resection surgery that allowed the final resolution of the clinical picture.Despite being a rare hydroelectric disorder in pediatrics, given the potential severity of hypercalcemia, early detection and treatment are important in order to avoid potential short- and long-term complications.

Disgerminoma de ovario con componente sincitiotrofoblástico en una adolescente / Ovarian dysgerminoma with syncythiotrophlastic component in a teenage woman

INTRODUCCIÓN. Los tumores de células germinales del ovario de carácter maligno son infrecuentes en la adolescencia. Los disgerminomas se caracterizan por crecimiento rápi-do, diseminación linfática, alta sensibilidad a la radioterapia y quimioterapia. OBJETIVO. Establecer la presentación clínica, métodos diagnósticos y tratamiento para el manejo del disgerminoma ovárico en una adolescente. CASO CLÍNICO. Paciente mestiza de 14 años que acudió por dolor abdominal y masa palpable en región abdominopélvica asociados a elevación de marcadores séricos tumorales. Los reportes de imagen informaron masa ane-xial derecha, sólida de bordes lobulados y bien definidos. RESULTADOS. Se realizó exére-sis del tumor con protocolo de ovario conservador. El postoperatorio describió tumor ovári-co de 20 cm, lobulado y sólido que comprometió el ovario derecho en toda su extensión. El estudio histopatológico reportó: disgerminoma en estadio patológico IA moderadamente diferenciado, con extensión tumoral a pared de la trompa uterina derecha. DISCUSIÓN. El caso coincidió con otros reportes descritos en la literatura, donde la presentación clínica fue similar y el abordaje terapéutico con un protocolo de ovario conservador más la quimio-terapia adyuvante fueron la elección más óptima para preservar la función endocrina y la fertilidad en la paciente. CONCLUSIÓN. Los exámenes complementarios para determinar el diagnóstico fueron los marcadores tumorales, la ecografía pélvica y la tomografía axial computarizada simple y contrastada de abdomen y pelvis. La cirugía conservadora abierta es gold standard complementada con quimioterapia adyuvante en la adolescente.

INTRODUCTION. Germ cells tumors of the ovary of a malignant nature are uncommon in the adolescence. Dysgerminomas are characterized by rapid growth, lymphatic disse-mination, high sensitivity to radiotherapy and chemotherapy. OBJECTIVE. Establish the clinical presentation and diagnostic methods of ovarian dysgerminoma in the pediatric age for a correct therapeutic approach. CLINICAL CASE. A mestiza female of 14 years old, who has abdominal pain and a palpable mass in the abdominal pelvic region, and also elevation of the serum tumor markers. Image reports showed right solid adnexal mass with well-defined lobed edges. RESULTS Tumor exeresis was performed with a conservative ovarian protocol. The postoperative findings described a 20 cm, lobulated, solid ovarian tumor that compromised the right ovary in its entirety. The histopathological study repor-ted: moderately differentiated pathological stage dysgerminoma IA, with tumor extension to the wall of the right uterine tube. DISCUSSION. The case agrees with other reports described in the literature where the clinical presentation was similar and the therapeutic approach with a conservative ovary protocol plus adjuvant chemotherapy were the most optimal choice to preserve endocrine function and fertility in the patient. CONCLUSION. The complementary exams to reach the diagnosis were tumor markers, pelvic ultrasound and simple and contrasted computarized axial tomography of the abdomen and pelvis. Open conservative surgery was the gold standard supplemented with adjuvant chemothe-rapy in adolescent.

Canine ovarian dysgerminoma / Disgerminoma ovariano canino

ABSTRACT: This research aimed to describe a clinical case of ovarian dysgerminoma in a bitch, by showing clinical, ultrasound, surgical and pathological findings. The research also sought to emphasize the importance of establishing an early and definitive diagnosis through histopathology, establishing appropriate protocols for each patient. Ovarian tumors have a low incidence in dogs and cats. Dysgerminomas are a type of ovarian germ cell tumor. They develop in dogs of variable age, that may present clinical signs of hormonal imbalance such as persistent estrus, or pyometra. Prognosis is good in animals that undergo surgery and show no evidence of metastasis. This article presents a clinical case of a 6-year-old English Bulldog with persistent estrus for 2 months, and slightly depressed mental state. Ultrasound revealed the presence of a mass on the left ovary and uterine content. Ovariohysterectomy was performed and the mass was submitted to histopathological exam, which diagnosed an ovarian dysgerminoma.

RESUMO: Neste trabalho descrevem-se caso clínico, achados de ultrassom, cirúrgicos e patológicos de disgerminoma ovárico em cadela. Os tumores ováricos têm baixa incidência em cães e gatos. Nesta categoria estão os tumores das células germinativas, a partir das quais se desenvolvem os disgerminomas. Acomete cadelas de idades variáveis, que podem apresentar sinais clínicos indiciando alterações hormonais, como cio persistente, ou piometra. O prognóstico em animais tratados cirurgicamente, sem evidência de metástase, é bom. Esta pesquisa relata um caso clínico em cadela, raça Bulldog Inglês, de 6 anos de idade, com presença de cio persistente por dois meses. O ultrassom revelou a presença de massa ao nível do ovário esquerdo e escasso conteúdo uterino. Foi realizada ovariohisterectomia e a peça cirúrgica foi enviada para anatomia patológica, que diagnosticou disgerminoma ovarico. Após a resolução do caso, ressalta-se a importancia do diagnóstico clinico e histopatológico precoce para estabelecer protocolos de tratamento adequados.

Síndrome de Frasier, primer caso reportado en Perú: first reported case in Peru / Frasier´s syndrome: first reported case in Peru

El síndrome de Frasier es una enfermedad rara producida por la mutación del gen WT1, caracterizado por pseudohermafroditismo masculino, disgenesia gonadal 46XY y enfermedad glomerular. Reportamos el caso de una mujer de 18 años, diagnosticada a los 12 años de síndrome nefrótico con desarrollo precoz de enfermedad renal crónica terminal y requerimiento de diálisis. A los 17 años se le detectó una tumoración abdominal. La laparotomía exploratoria reveló tumoración anexada a la trompa derecha que se extendía hasta la pared posterior del útero. Se le realizó histerectomía abdominal total con salpingo-ooforectomía bilateral. El diagnóstico anátomo-patológico fue disgerminoma. La paciente tenía amenorrea primaria y ausencia de caracteres sexuales secundarios. El estudio de corpúsculo de Barr de células de mucosa bucal fue negativo para cromatina sexual y el cariotipo fue 46, XY (Disgenesia Gonadal). El estudio genético reportó mutación heterocigótica en el intrón 9 del gen WT1. El cuadro es compatible con síndrome de Frasier, primer caso reportado en Perú. (AU)

Frasier´s syndrome is a rare disease caused by a mutation in the WT1 gene and is characterized by male pseudo hermaphroditism, gonadal dysgenesis 46XY and glomerular disease. We report the case of an 18-year-old female patient diagnosed at the age of 12 years of age of nephrotic syndrome who rapidly progressed to chronic failure needing dialysis. At the age of 17-years of age she presented an abdominal tumor, a laparotomy revealed a tumor attached to the right fallopian tube. An hysterectomy with bilateral fallopian tube extirpation, pathological findings revealed a dysgerminoma. The patient had a history of primary amenorrhea and absence of secondary sexual features. The study of Barr´s corpuscle of the oral mucosa was negative for sexual chromatin and the karyotype was 46 XY (gonadal dysgenesis). The genetic study revealed heterozygous mutation in the 9 gene WT1. The clinical presentation is compatible with Frasier´s syndrome, fist time reported in Peru. (AU)

Disgerminoma puro de ovario en adolescente: presentación de un caso y revisión de la literatura / Pure Ovarian Dysgerminoma in a Teenager: Case Report and Literature Review

Las tumoraciones de ovario de naturaleza maligna son poco frecuentes en edades pediátricas. Los disgerminomas son tumores relativamente raros y constituyen alrededor del 2 % de todos los canceres ováricos, sin embargo, representan aproximadamente la mitad de los tumores malignos de células germinales. Se presenta el caso de una paciente de 14 años de edad, con antecedentes de displasia esquelética generalizada, que acudió con dolor abdominal y masa palpable en hipogastrio. Los exámenes de imagenología informaron que la tumoración estaba bien encapsulada y que presentaba aspecto sólido. Se asoció a la elevación de marcadores tumorales séricos por lo que se realizó excéresis del tumor y estudio anatomopatológico que concluyó el caso como disgerminoma puro del ovario derecho limitado al órgano. Su relativa escasa frecuencia nos permite comunicar el presente reporte de un disgerminoma en paciente en edad pediátrica portadora de una displasia esquelética.

Ovary tumor of malignant nature is infrequent in pediatric ages. Dyrgeminomas are not common and constitute around 2 % of all ovary cancers; however, they represent approximately half of the malignant tumors of germinal cells. A case of a 14-year-old patient is presented, with antecedents of skeletal generalized dysplasia, who presented to the doctor complaining of abdominal pain and a palpable mass in the hypogastrium. Imaging exams reported a well-encapsulated tumor with a solid aspect. It was associated to the elevation of seric tumor markers reason for which it was removed and the anatomic-pathologic study concluded the case as a pure right ovary dysgerminoma limited to the organ. It is relatively infrequent in a pediatric age patient carrier of a skeletal dysplasia so it is decided to be published.

Disgerminoma em gestação: conduta conservadora / Dysgerminoma in pregnancy: conservative conduct

relatar conduta conservadora de sucesso em caso de tumor gigante de células germinativas durante gestaçãode 7 meses, com feto viável. Relato de caso: paciente de 20 anos, primigesta com 26 semanas de gestação, admitidacom massa abdominal volumosa a esclarecer e quadros recorrentes de epigastralgia e náuseas. Devido imaturidade fetale marcadores tumorais negativos para malignidade, optou-se por conduta expectante, corticoterapia pré-natal e controlede vitalidade fetal, culminando, devido sinais de sofrimento fetal ao doppler, com cesareana segmentar seguida deanexectomia à direita, às 34 semanas da gestação. O recém-nascido pesou 1880g e apresentou apgar 2/5/7. A biópsia decongelação sugeriu neoplasia de origem germinativa e encapsulada de ovário. Considerações finais: acredita-se queeste relato venha a contribuir como alternativa à conduta em um caso onde se tem uma patologia cirúrgica e um fetoviável, além de acrescentar dados à literatura acerca de um tema tão raro.

To report successful conservative management in cases of germ cell tumor giant during pregnancy of7 months, with viable fetus. Case report: patient 20 years, first pregancy at 26 weeks gestation, admitted with abdominalbulky mass to clarify and recurrent epigastric pain and nausea. Because immature fetal and tumor markers negativefor malignancy, we opted for expectant management, antenatal steroids, and fetal control, culminating due to signs offetal doppler, followed by Target with cesarean and rightanexectomy at 34weeks . The newborn weighed 1880g andhad Apgar score 2/5/7. A freezing biopsy suggested encapsulated ovarian germ neoplasia source. Final thoughts: it isbelieved that this report will contribute to the alternative approach in a case where you have a surgical pathology and aviable fetus, and add data to the literature on a subject so rare.

Cáncer de ovario en el embarazo: reporte de un caso / Ovarian cancer in pregnancy: case report

Antecedentes: La asociación entre cáncer y embarazo es infrecuente, con una incidencia entre 0,02-0,1 por ciento ocupando el cáncer de ovario (CAO) el tercer lugar entre las neoplasias ginecológicas más frecuentemente asociada a la gestación, con tasas entre 1/10.000 a 1/100.000 embarazos. Objetivo: Divulgar un caso clínico de interés para la comunidad médica. Caso clínico: Gestante de 22 años que consulta por presentar dolor abdominal, vómitos, disnea y aumento de circunferencia abdominal. Presenta tumoración parauterina que alcanzaba a hipocondrio derecho, e ingresa con diagnostico de embarazo interrumpido de 12 semanas, tumoración de ovario; síndrome de pseudo Meigs y anemia. Mediante ecografía transabdominal se confirma lesión en fosa ilíaca y flanco derecho multilobulada de 17,3 x 9,9 x 13,7 cm, concordante con imágenes de RMN donde se aprecia como una tumoración ovárica sólido-quística. Se práctica laparotomía y la biopsia por congelación diagnosticó tumor ovario de células germinales (disgerminoma). Se procede a practicar histerectomía total con feto obitado in útero, más salpingo-ooforectomía bilateral. Egresando en buenas condiciones y actualmente en quimioterapia. Conclusión: La coincidencia de CAO durante el embarazo es rara, siendo los digerminomas los tumores malignos más frecuentemente diagnosticados.

Background: The association between cancer and pregnancy is infrequent, with an incidence of 0.02 to 0.1 percent; occupying ovarian cancer (OCA) in third place among the most common gynaecological malignancies associated with pregnancy, with rates between 1/10,000 to 1/100,000 pregnancies. Aim: To disseminate clinical case of interest to the medical community. Case report: A 22 years old pregnant who consulted for abdominal pain, vomiting, dyspnoea and increased abdominal girth. Who has an anexial tumour reaching right upper quadrant, which was admitted with diagnosis of interrupted pregnancy of 12 weeks, ovary's tumour, pseudo Meigs' syndrome and anaemia. Transabdominal ultrasound confirmed space occupying lesion in the right lower quadrant and flank multilobed of 17.3 x 9.9 x 13.7 cm, with concordance in MRI which is seen as a mixed ovarian tumour. Laparotomy was practice and the frozen biopsy was diagnosed as ovarian germ cell tumour (dysgerminoma). It proceeds to total hysterectomy with death fetus in uterus, with bilateral salpingo oophorectomy. Withdrawal in good condition and currently under chemotherapy regimen. Conclusion: The coincidence of OCA during pregnancy is rare, the dysgerminoma are the most frequently diagnosed malignancy.

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.