One case of misdiagnosis of 22q11.2 deletion syndrome with ovarian mixed germ cell tumor / 中华内分泌代谢杂志

Idiopathic hypoparathyroidism is a rare endocrine disease. It is often manifested as neuropsychiatric symptoms, especially epileptic seizures. Thus, it is easy to be misdiagnosed as primary epilepsy. The following case report details the diagnosis of a 17-year-old girl who had been misdiagnosed as primary epilepsy for a long time. She was found hypoparathyroidism during the hospitalization for the operation of ovarian mixed germ cell tumor. After whole exome sequencing, she was ultimately diagnosed as 22q11.2 deletion syndrome. This case suggested that clinicians should be aware of the possibility of hypoparathyroidism in adolescent epilepsy, especially hereditary hypoparathyroidism. At the same time, the possible high risk of tumors should also be considered in hereditary hypoparathyroidism.

Tumor maligno mixto de células germinales de ovario. Reporte de caso / Ovarian malignant mixed germ cell tumor. A case report

RESUMEN Los tumores malignos de células germinales del ovario, aunque poco frecuentes, son el tipo más común de neoplasias ováricas malignas en niñas y adolescentes; aproximadamente dos tercios de ellas menores de 20 años. Representan 2% a 5% de todos los tumores ováricos de origen germinal. Los tumores comprenden dos o más tipos de componentes de células germinales, e incluyen al disgerminoma acompañado de tumores del seno endodérmico, carcinoma de células embrionarias, teratoma maduro o inmaduro y/o coriocarcinoma. Existen pocos informes de casos de tumores de células germinales mixtas con diferentes combinaciones de componentes malignos. La alfafetoproteína y la gonadotropina coriónica humana son los marcadores tumorales más característicos. Los hallazgos inmunohistoquímicos son importantes para el diagnóstico. La cirugía más quimioterapia adyuvante es la primera opción para preservar la fertilidad en cualquier niña o adolescente que presente con un tumor pélvico en rápido crecimiento. Se presenta un caso de tumor maligno mixto de células germinales de ovario.

ABSTRACT Ovarian malignant germ cell tumors, although rare, are the most common type of malignant ovarian neoplasms in girls and adolescents; approximately two thirds of all cases occur in women under 20 years old. These tumors represent 2%-5% of all ovarian germinal tumors. Tumors comprise two or more types of germ cell components that include dysgerminoma accompanied by tumors of the endodermal sinus, embryonal cell carcinoma, mature or immature teratoma and/or choriocarcinoma. There are few case reports of mixed germ cell tumors with different combinations of malignant components. Alpha-fetoprotein and human chorionic gonadotropin are the most characteristic tumor markers, and immunohistochemical findings are important in the diagnosis of mixed malignant ovarian germ cell tumors. Surgery plus adjuvant chemotherapy is the first option to preserve fertility in any girl or adolescent who presents a rapidly growing pelvic tumor with high concentrations of alpha-fetoprotein or human chorionic gonadotropin. We present a case of ovarian malignant mixed germ cell tumor.

Tumor germinal mixto maligno de testículo de inicio súbito: presentación de un caso / Testicle´s malignant mixed germ tumor of sudden onset: a case presenting

Los tumores germinales mixtos representan el 40-60% de las neoplasias testiculares, pueden presentarse en testículos descendidos o no, y en sitios extratesticulares. Están asociados a condiciones como criptorquidia, atrofia testicular y hernia inguinal. Pueden debutar con síntomas que incluyen aumento unilateral del volumen escrotal, con o sin dolor. Microscópicamente se observan varias combinaciones de componentes histológicos germinales, es indispensable la determinación del porcentaje de cada uno de ellos, y la medición de marcadores tumorales, por sus implicaciones pronósticas. El tratamiento principal está basado en la orquiectomía radical y dependiendo del estadio la quimioterapia y o radioterapia complementaria. En los pacientes adecuadamente tratados, la sobrevida es muy buena, aun en estadios avanzados de la enfermedad. Se presenta masculino de 20 años con dolor de inicio súbito y sensación de masa en testículo derecho. Ecografía revela lesión sólida que compromete parénquima testicular. Se realiza orquiectomía radical. Estudio anatomopatológico muestra tumor maligno con áreas sólidas y quísticas, tipo tumor germinal mixto con componente de carcinoma embrionario, teratoma maduro, y tumor de seno endodérmico, sin componente seminomatoso.

Mixed germ cell tumors represent 40-60% of testicular tumors, they can occur in undescended testicles or not, and Extratesticular sites. They are associated with conditions such as cryptorchidism, testicular atrophy and inguinal hernia. They may present with symptoms including unilateral scrotal volume increase, with or without pain. Microscopically various combinations of components observed histological germ is indispensable determining the percentage of each, and measurement of tumor markers for prognostic implications. Treatment is based on surgical resection plus chemotherapy and / or adjuvant radiotherapy. In treated patients, survival is good, even in advanced stages of the disease. Male 20 years presents with sudden onset of pain and sensation of mass in the right testicle. Ultrasound reveals solid lesion that compromises testicular parenchyma. Radical orchiectomy is done. Pathological study shows malignant tumor with solid and cystic areas, with mixed germ cell tumor type component of embryonic carcinoma, teratoma, endodermal sinus tumor and without seminoma component.

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.

Persistent Müllerian duct syndrome of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra‑abdominal testis.

Persistent Müllerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism characterized by retention of Müllerian duct derivatives in a phenotypically and karyotypically male patient. Deficiency of anti‑Müllerian hormone (AMH) secretion or resistance to AMH action due to defective AMH‑II receptor is presumed to cause such syndrome in the majority of cases. About 158 PMDS cases have been reported so far, out of which 31 cases are associated with testicular neoplasms. Herein, we describe an interesting case of young male initially diagnosed and treated for inguinal hernia, but finally diagnosed as “PMDS of mixed anatomical variant (combined male and female type) with mixed germ cell tumor of left intra‑abdominal testis” comprising components of seminoma and yolk sac tumor and treated successfully.

Mixed germ cell tumor in Androgen insensitivity syndrome: A case report / Philippine Journal of Obstetrics and Gynecology

Androgen insensitivity syndrome (AIS) is a disorder of sexual development characterized by a female phenotype with a 46 XY karyotype. Most patients present with primary amenorrhea; however,1.1% of patients present with an inguinal mass. Most commonly, seminoma arising from the gonads are found.                                                                                This report represents the case of a 15 year-old female looking adolescent who initially presented with an abdominopelvic mass. A diagnosis of AIS was made based on the physical examination findings, endocrine profiling, imaging studies and karyotyping. She underwent cytoscopy, exploratory laparotomy,adhesiolysis, tumor debulking, frozen section, bowel run, repair of serosal tear, Jackson-Pratt drain insertion, bilateral percutaneous nephrostomy under combined spinal and epidural anesthesia. Histopathologic examination of the excised mass revealed a mixed germ cell tumor. This paper will discuss the diagnostic approach as well as the management and prognosis of patients with AIS associated with mixed germ cell tumor.

Mixed germ cell tumor of mediastinum/lung masquerading as hemangioma in fine needle biopsy.

The histological predominance of one component in a germ cell tumor can lead to a mistaken diagnosis. Here, we describe a mediastinal teratoma with predominant vascular proliferation (90%) which on fi ne needle biopsy was diagnosed as a pulmonary hemangioma. Later, resection specimen revealed other components constituting ~4%, changing the diagnosis while illustrating theimportance of careful evaluation. A 37-year-old Caucasian male with shortness of breath, weight loss, and history of recently resolved pneumonia was diagnosed with hemangioma, after acomputed tomography guided fi ne needle biopsy of a -16.3-cm mediastinal pulmonary mass revealed abundant benign vascular elements. Following tumor excision, ~94% of the sample exhibited predominant vascular elementsThe mass also exhibited rare focal areas of malignant epithelium in a reticular arrangement and undifferentiated pleomorphic cells associated with vascular invasion. These atypical epithelial cells were positive for CD30, pan CK, AFP, -HCG and CD 117, thusprocuring a diagnosis of mediastinal mixed germ cell tumor. Although mixed germ cell tumors consist of various tissue types, diagnosis can be easily overlooked if one component dominates. Therefore, obtaining adequate representative neoplasm samples, and sectioning the samples thoroughly, searching for coexisting tissue types is critical for accurate diagnosis.

Diffuse Embryoma of the Testis: A Case Report

Diffuse embryoma of the testis is a very rare, distinct form of mixed germ cell tumor. I report here on a case of diffuse embryoma in a 22-year-old male who presented with painful scrotal swelling. The resected testis was entirely occupied by a non-encapsulated tumor mass. The cut surface of the tumor was grey or whitish pink, soft and granular with foci of hemorrhage and necrosis. Microscopically, the tumor was characterized by a diffuse, orderly arrangement of embryonal carcinoma and yolk sac tumor in almost equal proportions. The yolk sac tumor component was diffusely wrapped around the embryonal carcinoma. Syncytiotrophoblasts were scattered throughout the tumor. Minor foci of immature teratoma, seminoma and intratubular germ cell neoplasia were observed. The yolk sac tumor (YST) component was emphasized by immunoreactivity for alpha fetoprotein, whereas the embryonal carcinoma was reactive for CD30. The strong reactivity for cytokeratin in the YST component formed an outstanding contrast to the weak cytokeratin reactivity in the embryonal carcinoma.

Congenital Cerebellar Mixed Germ Cell Tumor Presenting with Hemorrhage in a Newborn

We report here on a neonate with congenital cerebellar mixed germ cell tumor, and this initially presented as cerebellar hemorrhage. Postnatal cranial ultrasonography revealed an echogenic cerebellar mass that exhibited the signal characteristics of hemorrhage rather than tumor on MR images. The short-term follow-up images also suggested a resolving cerebellar hemorrhage. One month later, the neonate developed vomiting. A second set of MR images demonstrated an enlarged mass that exhibited changed signal intensity at the same site, which suggested a neoplasm. Histological examination after the surgical resection revealed a mixed germ cell tumor.

A Case of Mixed Germ Cell Tumor of the Mediastinum / 결핵및호흡기질환

The Mixed germ cell tumors of the mediastinum are very quite rare. The Prognosis is generally dominated by the most aggressive component, which is represented by a choriocarcinoma, an endodermal sinus tumor, an embryonal carcinoma, and a seminoma, in descending order of in the degree of malignancy. We experienced one a case of a mixed germ cell tumor at the anterior mediastinum. The patient was 27-year-old male, who complained of hemoptysis and cough. The Chest X-ray showed a well-defined lobulated mediastinal mass in the left upper lung field. The operation was done and The mass was excised surgically. A Biopsy showed elements of mature tissues, immature neuronal components, and seminoma components.

A Case of Metastatic Gastric Cancer Resulting from Mixed Germ Cell Tumor / 대한소화기내시경학회지

Majority of metastatic stomach tumor is direct invasion from adjacent malignant lesions such as pancreatic carcinoma, hepatoma, colonic carcinoma which invade the stomach via gastrocolic ligament. Otherwise, metastatic involvement of the stomach as a result of solid tumors of extra-gastrointestinal origin is a rare occurrence, in about 0.2% to 1.7% of patients dying of solid tumors. The tumors which were most commonly reported hematogenous metastatic malignancy of the stomach are melanoma, lung carcinoma, breast carcinoma. We have experienced an unusual case in which a metastatic gastric germ cell tumor presented as an upper gastrointestinal bleeding in a 29-year-old man. He was hospitalized with complaints of melena and severe anemic appearance. We performed gastroscopy which revealed an fungating mass covered with dark pigmentation at the anterior wall of lower body of the stomach. Pathologic findings of the biopsy showed a metastatic mixed germ cell tumor of the stomach. We report this unusual metastatic mixed germ cell tumor of the stomach with a review of literatures.

A Case of Mixed Germ Cell Tumor of Ovary: Complete Remission after Conservative Surgery and Bleomycin, Etoposide, Cisplatin (BEP) therapy / 대한산부인과학회잡지

Malignant germ cell tumor of ovary is very rare and one of the most malignant gynecologic neoplasms usually affecting younger women. we experienced a case of 19-year old female with mixed germ cell tumor of ovary which was composed of endodermal sinus tumor and dysgerminoma. we report this case with a brief review of the literature.

A case of mixed germ cell tumor of the ovary / 대한산부인과학회잡지

Malignant germ cell tumors of the ovary are rare gynecologic tumors usually affecting younger women. Recently, we experienced a case of 11-year old female with mixed germ cell tumor of ovary which was composed of yolk sac tumor and immature teratoma with high serum levels of alpha-fetoprotein (AFP) and human chorionic gonadoprotein (hCG). We report this case with brief review of concerned literature.

A Case of Mixed Germ Cell Tumor with 6 Components of Germ Cell and Sarcomatous Component / 대한산부인과학회잡지

Malignant germ cell tumors of the ovary are uncommon neoplasms. Although 20-25% of all ovarian tumors are derived from germ cells, only about 3% of germ cell tumors are malignant. Mixed germ cell tumors contain at least two malignant germ cell elements. These lesions should be managed with combination chemotherapy, preferably BEP. Recently we experienced a case of mixed germ cell tumor with 6 components of germ cell and sarcomatous change in a 11 year old girl. Preoperative CA-125, B-hCG, aFP, LDH, a-1-antitrypsin were elevated and the final pathologic report was mixed germ cell tumor composed of endodermal sinus tumor, embryonal carcinoma, mature and immature teratoma, choriocarcinoma, dysgerminoma and sarcomatous change, Postoperative chemotherapy with 6 courses of BEP regimen was performed and all tumor markers became normal after 4 courses of chemotherapy. What we interested in this case was several components of germ cells and sarcomatous change and the sarcomatous change might be derived from the mature cystic teratoma component, so we present this case with a brief review of the literatures here.

A Case of Mixed Germ Cell Tumor in the Third and Lateral Ventricle

The authors report a case of mixed germ cell tumor arising at the third ventricle and extending to the lateral ventricle in a sixteen-year-old male who presented with headache, nausea, vomiting and polydipsia. Magnetic resonance imaging of the brain demonstrated a lobulated mass in the third and left lateral ventricle. For surgery, the anterior interhemispheric transcallosal approach was used, and on histologic examination three concurrent histologic components were found: germinoma, embryonal carcinoma, and endodermal sinus tumor.

Mixed Germ Cell Tumor in a Patient with Turner Syndrome / 대한부인종양콜포스코피학회잡지

In this report, we describe ovarian mixed germ cell tumor in a patient with Turner syndrome. Right ovary was replaced by a 15 x 11 x 10cm teratomatous benign tissue and small area of mixed malignant germ cell tissue. The malignant germ cell portion was composed of embryonal carcinoma and loose reticular area of yolk sac tumor and syncytiotrophoblastic giant cells. Left ovary was streak gonad. This is the first reported case of mixed germ cell tumor with Turner syndrome in Korea.

Malignant Mixed Germ Cell Tumor and Contralateral Gonadoblastoma in Turner's Syndrome, 45, X0/46, XY Karyotype: A case report

Turner's syndrome results from complete or partial monosomy of the X chromosome and is characterized by hypogonadism or related other congenital anomalies in phenotypic females. In these patients, there are failure to develop normal secondary sex characteristics, amenorrhea, or short stature at puberty and the ovaries are reduced to atrophic fibrous strands devoid of ova and follicles(streak gonads). Individuals with this condition are particularly prone to the development of gonadoblastoma. For this reason, the gonads should be early removed and supplemental estrogen therapy given. We experienced a case of Turner's syndrome, 45, XO/46, XY karyotype in a 20-year-old phenotypic female complained an amenorrhea. On the exploratory laparotomy, the right gonadal mass is sevearly adhered to the adjacent organs and measures 8 x 5 x 5 cm in dimension and 75gm in weight and shows multiple foci of hemorrhage with necrosis. The left streak gonad measures 3.5 x 2 x 1.5 cm in dimension and shows multiple foci of calcification. Microscopically, the right gonadal mass reveals malignant mixed germ cell tumor, composed of endodermal sinus tumor, composed of endodermal sinus tumor with dysgerminoma and gonadoblastoma. The left streak gonad consists of mainly dense fibrous connective tissue and shows some foci of calcification associated with gonadoblastoma. On immunohistochemical and special stainings, the cytoplasm and hyalin droplets of the endodermal sinus tumor component reveal strong positivity to the a-fetoprotein and PAS. After removal of both gonads, the serum level of the a-fetoprotein is markedly down from 1742ng/ml to 2.6 ng/ml.

Mixed Germ Cell Tumor in Third Ventricle: A report of case

Primary mixed germ cell tumor is a very rare tumor in the cranial cavity. It is composed of varying combination of germ cell neoplasms, such as germinoma, embryonal carcinoma, choriocarcinoma and teratoma. The authors experienced a case of mixed germ cell tumor developing in the floor of the third ventricle, in a twelve years old boy. He was admitted to the hospital, because of headache, eyeball pain, diplopia and vomiting. Brain CAT scan revealed a round tumor density in the floor of the third ventricle. Tumor marker study, preoperatively checked, revealed beta-HCG, 439.8 mIU/ml and alpha-fetoprotein, under 20 ng/ml. On operation, there was a dark brown firm mass up to 3.0 cm in the third ventricle, that invaded into the foramen Monro. With microscopic examination, this tumor is composed chiefly of germinoma, with embryonal carcinomatous region, choriocarcinomatous region and focal mature teratomatous region. The authors diagnosed this case as mixed germ cell tumor.

A Case of Mixed Germ Cell Tumor Arising From Left Basal Ganglia

Germ cell tumor of basal ganglia is rare. Authors report a case of mixed germ cell tumor of left basal ganglia in a 16 year-old boy who had right-sided hemiparesis and dysphasia. Brain CT scan showed highly enhancing mass lesion with cystic portion and dense tumor stain was demonstrated in carotid angiography. The patient was successfully treated by left temporal lobectomy and partial removal followed by irradiation which has resulted in good neurological status. A summary of previously reported cases is also presented.

A Case of Mixed Germ Cell Tumor at Right Frontal Area (Embryonal Carcinoma With Germinoma)

Primary intracranial germ cell tumor is rare. The majority of these tumors are germinoma and teratoma of varying degree of differentiation with much less frequent occurrence of embryonal carcinoma, choriocarcinoma and endodermal sinus tumors. These may occur in various mixture. These are almost exclusively situated in the midline with the pineal or parapineal and hypothalamus. We are presenting a case of embryonal carcinoma mixed with germinoma component, which occurred to a 20 year old man who underwent operation and radiation therapy 6 months previously and the tumor mass was located at the right frontal area extending to the base of frontal lobe. We removed the mass near totally and radiation therapy was performed. The result was successful so far.