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.

Ovarian dysgerminoma with Müllerian anomaly: a case report

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)

Germ cell tumors in dysgenetic gonads

This review describes the germ cell neoplasms that are malignant and most commonly associated with several types of gonadal dysgenesis. The most common neoplasm is gonadoblastoma, while others including dysgerminomas, yolk-sac tumors and teratomas are rare but can occur. The purpose of this review is to evaluate the incidences of these abnormalities and the circumstances surrounding these specific tumors. According to well-established methods, a PubMed systematic review was performed, to obtain relevant studies published in English and select those with the highest-quality data. Initially, the first search was performed using gonadal dysgenesis as the search term, resulting in 12,887 PubMed papers, published, from 1945 to 2017. A second search using ovarian germ cell tumors as the search term resulted in 10,473 papers, published from 1960 to 2017. Another search was performed in Medline, using germ cell neoplasia as the search term, and this search resulted in 7,560 papers that were published between 2003 to 2016, with 245 new papers assessing gonadoblastomas. The higher incidence of germ cell tumors in gonadal dysgenesis is associated with a chromosomal anomaly that leads to the absence of germ cells in these gonads and, consequently, a higher incidence of neoplasms when these tumors are located inside the abdomen. Several hypotheses suggest that increased incidence of germ cell tumors involves all or part of the Y chromosome or different genes.

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.

Primary intrauterine dysgerminoma in a pregnant woman: A rare case report

Primary extraovarian dysgerminoma is very rare. Nearly all reported uterine germ cell tumors are nondysgerminoma. Herein, we reported a primary intrauterine dysgerminoma. A 21-year-old pregnant woman G2 L1 with a gestational age of 33 weeks referred to an obstetric ward with a chief complaint of labor pain and membrane rupture. Ultrasonography showed a large hypoechoic lobulated area adjacent to the lower part of her uterus. She underwent an operation and a huge mass was detected in her uterus, which was extended to her pelvic floor. Histopathological and immunohistochemical examinations were consistent with dysgerminoma.

Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology.

Gonadoblastomas (GBYs) are rare gonadal tumors almost always arising from a dysgenetic gonad with a Y chromosome. Very rarely, GBYs appear in otherwise normal women with a history of pregnancy. The typical histological appearance of GBY can be altered by extensive deposition of basement membrane material, calcification, or overgrowth by a malignant tumor. Less than 10 cases have been reported with normal 46XX karyotype. Only six cases of GBY have been described in pregnant women. We present a unique case of GBY with dysgerminoma in a genotypically and phenotypically normal woman with a history of normal pregnancy, absence of virilization, and characteristic immunohistomorphological features.

Ovarian Mixed Germ Cell Tumor in Childhood: A Rare Case Report.

Germ cell tumor is a rare malignancy accounting for 3% of all pediatric tumor. The mixed germ cell tumor is still rare. They affect mainly young girls and women, Due to this, the conservation of reproductive potential is a great concern. We report a rare case of a 7-year-old girl who presented with peripheral pseudoprecocious puberty having mixed malignant ovarian germ cell tumor of both yolk sac tumor with dysgerminoma.

A case of malignant dysgerminoma in a slaughtered dairy cow / 대한수의학회지

An abnormally enlarged right ovary and a mass in fat surrounding the right kidney were discovered in a dairy cow during routine postmortem examination at slaughter. The ovary was dark reddish and multinodular in shape. Numerous cystic structures were identified in the mass. Histopathologically, the ovary was completely replaced with large, uniform, polyhedral neoplastic cells containing vesicular nuclei and prominent nucleoli. The mitotic index was high. In the lymphatic vessels, tumor emboli were observed. Another mass in the fat surranding the right kidney had the same histological features as the ovarian mass. This animal was diagnosed with malignant dysgerminoma and metastasis to other peritoneal organs.

CT and MRI Diagnosis of Ovarian Dysgerminoma / 中国医学影像学杂志

Purpose Ovarian dysgerminoma has no specific symptoms or physical signs, which is thus prone to misdiagnosis before treatment. This paper aims to investigate CT and MRI clinical features of ovarian dysgerminoma, so as to provide an accurate basis for its clinical treatment and also improve patients'' life, quality.Materials and MethodsThe CT and MRI data of 13 patients with ovarian dysgerminoma proved by pathology were retrospectively analyzed. Three patients underwent plain and enhanced CT scan, 6 took plain and enhanced MRI scan on T1WI and T2WI with different angles of views, and 4 other patients were performed both CT and MRI scan.Results①Twelve patients had single lesions, and 1 was bilateral multiple ones. The diameter of the lesions ranged from 5.5 cm to 16.5 cm, with mean of (9.5±3.8) cm; in terms of pathological type, 11 belonged to single type and 2 were mixed.②The CT results showed that 6 were solid mass and 1 was cystic. On enhanced CT scan, 6 cases showed heterogeneous light-to-moderate enhancement, 4 had tumors with significantly enhanced blood vessels, and 1 showed heterogeneous significant enhancement at arterial phase; all cases presented continuous enhancement at venous phase.③The MRI manifestations demonstrated 8 were with solid mass, which displayed iso- or slightly hypointense signal on T1WI, and iso- or slightly hyperintense signal on T2WI. The enhanced scan showed that 5 cases had heterogeneous mild enhancement, 3 had moderate enhancement, and 4 were seen with tortuous tumor vessels at arterial phase; all displayed continuous enhancement at venous phase. In the one case of cystic mass, solid component had moderate enhancement at arterial phase and continuous enhancement at venous phase. In another case of multilocular cystic mass, the tumor separate and cyst were significantly enhanced at arterial phase, and were continuous enhanced with hyperintense at venous phase.Conclusion Ovarian dysgerminoma tumors present features such as large lesions with clear boundaries. Tumors of single type are likely to be solid mass with central necrosis; the plain CT scan shows isodensity; the plain MRI scan mainly shows isodensity on T1WI, and iso- or slight hyperintensity on T2WI; the enhanced scan presents slight to moderate enhancement. Tumors of mixed type demonstrate cystic mass; the solid and separate parts are significantly enhanced. The comprehensive analysis of imaging features of ovarian neoplasms could help to make a correct diagnosis before surgery.

Collision tumor of ovary: a rare combination of dysgerminoma and serous cystadenocarcinoma.

Collision tumors of ovary are rare neoplasms and most commonly consist of a teratoma with mucinous tumor. Combination of papillary serous cystsdenocarcinoma and dysgerminoma was yet to be reported. A twenty years female patient presented with a large tumor of right ovary. Microscopically it was diagnosed as a collision tumor of ovary composed of dysgerminoma and serous cystadenocarcinoma. Mixed tumour can arise from divergent differentiation of a single type of stem cell. But components of collision tumor must arise from separate clones. Possibility of collision tumour should always kept in mind during assessment of difficult ovarian tumors to avoid diagnostic error. Key words: Collision tumor, dysgerminoma and serous cystadenocarcinoma.

Malignant mixed germ cell tumours of ovary. A Report of two cases.

Malignant germ cell tumours of ovary comprise less than 5% of all ovarian neoplasms. Malignant mixed germ cell tumours are still rare. Most common combination in mixed germ cell tumours is that of Dysgerminoma & yolk sac tumour. Mixed tumours showing three germ cell components and four or five germ cell components are still rare. Here we report two cases of Malignant mixed germ cell tumours with a histologic combination of Immature teratoma, Dysgerminoma & Yolk sac tumour. Review of literature also showed such type of combination.

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.

KIT/PDGFRA Expression and Mutation in Testicular Seminoma and Ovarian Dysgerminoma

BACKGROUND: KIT and PDGFRA are tyrosine kinase receptors. Stem cell factor/KIT-mediated signaling plays a role in normal spermatogenesis, and the alteration of KIT is important in the pathogenesis of seminomas/dysgerminomas (SD). METHODS: To determine the role of expression and mutation of the KIT and PDGFRA genes, we analyzed 16 seminoma cases, 4 spermatocytic seminoma (SS) cases and 8 dysgerminoma cases for KIT and PDGFRA expression and mutation of KIT (exons 9, 11, 13, and 17) and PDGFRA (exons 12 and 18) using PCR-SSCP methods. RESULTS: KIT was immunohistochemically positive in all 24 SD cases, and one of four (25%) SS cases. PDGFRA was immunohistochemically evident in 16 of the 24 (66.6%) SD cases, and two of the four (50%) SS cases. KIT expression was significantly reduced in SS compared with seminoma (p=0.0035). Four cases (14.3%) displayed mutation in KIT exon 17 or PDGFRA exon 12. Distant metastasis was present in three cases (10.7%), one of which had a nonsense mutation in KIT. CONCLUSIONS: These results indicate that KIT is expressed in the majority of SD cases, but not in most SS cases. However, there was no significant correlation between the clinicopathologic features and mutation or expression of KIT and PDGFRA.

A Case of Coincidental Gonadoblastoma and Dysgerminoma in 45X/47XYY Mosaic Turner Variant / 대한산부인과학회지

45X/47XYY mosaicism is a very rare sex chromosomal disorder with limited clinical information. We experienced an unusual mosaic syndrome in a 16-year old woman with a phenotypic female, short stature, and immature secondary sexual characteristics. We performed both gonadectomy and found a gonadoblastoma in one gonad and dysgerminoma in another gonad.

Gonadal Tumors Developed from Consecutively Transplanted Spleens Bearing Gonad Implants

This study was conducted by consecutively transplanting spleens, which had gonads implanted previously. A total of 84 cases for infantile testicles and 106 cases for ovarian follicles were performed. In the case of ovarian implants, the results were determined by the total number of follicle implants. A modified spleen transplantation technique called double implantation of ovarian follicles was applied to increase the amount of the implants. In this technique, an extra spleen is implanted into the potential donor so that the ovarian follicles can be implanted to two different spleens, doubling the amount of implants. Through consecutive spleen transplantation, we observed the results beyond a typical rat's life span. In many of these cases, we found more aggressive forms of malignant tumor, seminoma and dysgerminoma. We present the results and discuss possible pathogenic mechanisms of tumor formation.