Imaging in gynecological disease (22): clinical and ultrasound characteristics of ovarian embryonal carcinomas, non-gestational choriocarcinomas and malignant mixed germ cell tumors.

OBJECTIVE: To describe the clinical and ultrasound characteristics of three types of rare malignant ovarian germ cell tumor: embryonal carcinoma, non-gestational choriocarcinoma and malignant mixed germ cell tumor. METHODS: This was a retrospective multicenter study. From the International Ovarian Tumor Analysis (IOTA) database, we identified patients with a histological diagnosis of ovarian embryonal carcinoma, non-gestational choriocarcinoma or malignant mixed germ cell tumor, who had undergone preoperative ultrasound examination by an experienced ultrasound examiner between 2000 and 2020. Additional patients with the same histology were identified from the databases of the departments of gynecological oncology in the participating centers. All tumors were described using IOTA terminology. Three examiners reviewed all available ultrasound images and described them using pattern recognition. RESULTS: One patient with embryonal carcinoma, five patients with non-gestational ovarian choriocarcinoma and seven patients with ovarian malignant mixed germ cell tumor (six primary tumors and one recurrence) were identified. Seven patients were included in the IOTA studies and six patients were examined outside of the IOTA studies. The median age at diagnosis was 26 (range, 14-77) years. Beta-human chorionic gonadotropin levels were highest in non-gestational choriocarcinomas and alpha-fetoprotein levels were highest in malignant mixed germ cell tumors. Most tumors were International Federation of Gynecology and Obstetrics (FIGO) Stage I (9/12 (75.0%)). All tumors were unilateral, and the median largest diameter was 129 (range, 38-216) mm. Of the tumors, 11/13 (84.6%) were solid and 2/13 (15.4%) were multilocular-solid; 9/13 (69.2%) manifested abundant vascularization on color Doppler examination. Using pattern recognition, the typical ultrasound appearance was a large solid tumor with inhomogeneous echogenicity of the solid tissue and often dispersed cysts which, in most cases, were small and irregular. Some tumors had smooth contours while others had irregular contours. CONCLUSIONS: A unilateral, large solid tumor with inhomogeneous echogenicity of the solid tissue and with dispersed small cystic areas in a young woman should raise the suspicion of a rare malignant germ cell tumor. This suspicion can guide the clinician to test tumor markers specific for malignant germ cell tumors. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Vómitos / Vomiting

Los vómitos son un motivo frecuente de consulta. La mayoría de las veces se deben a enfermedades benignas; sin embargo, pueden ser el síntoma inicial de patologías graves y complejas, como procesos neoplásicos con afectación del sistema nervioso central, donde son el resultado del aumento de la presión intracraneal. El cáncer de testículo representa aproximadamente el 1 % de todas las neoplasias y constituye la neoplasia maligna más frecuente en hombres de entre 15 y 34 años. El coriocarcinoma supone entre el 0,3 y el 1 % de las neoplasias testiculares; es considerado como el más raro y con peor pronóstico de todas debido a su rápida diseminación. La mayoría de los casos debutan con síntomas en relación con las metástasis. Presentamos el caso de un paciente de 16 años que acude a consulta por mareos y vómitos. Presentaba una auscultación pulmonar patológica, por la que se solicitó una radiografía torácica que mostró neumotórax derecho e imagen en suelta de globos. Al ampliar estudio, se objetiva una B-HCG elevada y lesión nodular en la ecografía testicular. En el TAC cerebral se objetivaron lesiones metastásicas responsable de los vómitos. Se realizó biopsia de una lesión ulcerada del cuero cabelludo que informó metástasis de coriocarcinoma testicular

Vomiting is a frequent complaint. Most times it is caused by benign conditions. However, it can also be the initial symptom of serious and complex illnesses, such as neoplastic processes with central nervous system involvement, where vomiting is the result of increased intracranial pressure. Testicular cancer accounts for 1% of all neoplasms, and is the most frequent malignancy in men between 15 and 34 years. Choriocarcinoma accounts for 0.3-1% of testicular neoplasms, and it is considered the rarest of all and the one with the worst prognosis due to rapid spread. Most cases begin with symptoms related to the metastases. We present the case of a 16-year-old patient with dizziness and vomiting. His pulmonary auscultation was pathological, so a chest x-ray was performed, showing right pneumothorax and multiple pulmonary nodules. Further study showed elevated B-HCG and a nodular lesion in testicular ultrasound. Metastatic lesions responsible for the vomiting were found in the brain CT. A biopsy of an ulcerated lesion of the scalp showed metastasis of testicular choriocarcinoma

A rare case of primary rectal choriocarcinoma and review of the literature.

INTRODUCTION: Primary choriocarcinoma of the colon is an extremely rare neoplasm which has a poor prognosis. Only 18 cases have been previously reported in English medical literature. Here we present a case of primary rectal choriocarcinoma with a good response to chemotherapy and review the literature on this uncommon tumor. CASE REPORT: A 36-year-old woman presented with abdominal pain and vaginal bleeding. Abdominal magnetic resonance imaging revealed 6.9 × 5.3 × 6.4 cm hypervascular mass posterior to uterus very close to rectum. Beta-human chorionic gonadotropin (ß-hCG) level was markedly elevated. Low anterior resection of the rectum with lymph node dissection and total abdominal hysterectomy with bilateral salpingo-oophorectomy were performed. Pathologic diagnosis was reported as colonic choriocarcinoma with a focal component of adenocarcinoma. Post-operative magnetic resonance imaging detected multiple metastatic lesions throughout the liver. The patient was treated with systemic chemotherapy using bleomycin, etoposide and cisplatin (BEP protocol). After three cycles, ß-hCG level decreased to normal and magnetic resonance imaging showed regression of liver metastasis. However, the patient died of respiratory failure due to bleomycin toxicity and pneumonia accompanied by rapid disease progression. DISCUSSION: This is an extremely rare case of primary rectal choriocarcinoma. Due to poor prognosis of the disease, it seems very important to start prompt treatment to improve patient's survival.

Cutaneous Metastasis of Choriocarcinoma in 2 Male Patients: A Rare Presentation of an Aggressive Malignancy That Dermatopathologists Must Recognize.

Testicular choriocarcinoma needs to be considered in the differential diagnosis of cutaneous metastases in young adult men because of its propensity for early hematogenous dissemination. Furthermore, the diagnosis may not be suspected in many cases in which there is clinically no testicular enlargement. This highly aggressive germ cell tumor typically metastasizes to the liver, lungs, and brain. Skin metastasis is exceedingly rare with only 22 cases previously reported in the world literature. We herein report 2 additional cases: a 25-year-old man and a 32-year-old man, both of whom were treated for mixed germ cell tumors and developed multiple cutaneous metastases to the head.

Metastatic Nongestational Choriocarcinoma to the Brain: Case Report and Proposed Treatment Recommendations.

BACKGROUND: Nongestational choriocarcinoma (NGC) is a rare germ cell tumor, accounting for <0.6% of all gestational tumors, and has a poor prognosis when metastasized. NGC with metastasis to the brain is reported even less frequently. Gestational choriocarcinoma (GC) when metastasized to the brain has a higher morbidity and mortality but has been known to be a chemosensitive and radiosensitive lesion, and NGC is chemoresistant with an even worse prognosis. Currently, there is no consensus for treatment for metastatic NGC to the brain. CASE DESCRIPTION: This 66-year-old postmenopausal female presented with left upper extremity weakness more pronounced in her hand and a workup demonstrating a hemorrhagic lesion over the right frontal parietal lobe. Her metastatic workup was negative, leading to a craniotomy for resection of the mass. The pathology was consistent with metastatic GC of nongestational origin. CONCLUSIONS: Because of its chemosensitive nature, reports of optimal metastatic GC treatment include radiation alone, chemotherapy without radiation, surgical resection, or combined multimodal therapy. No recommendations for NGC metastasized to the brain have been reported. We propose a systematic workup for hemorrhagic brain lesions to include the proposed imaging modalities and serum markers, including ß-human chorionic gonadotropin, to aid early diagnosis. Based on a review of the literature, we recommend surgical resection with adjuvant therapy for accessible symptomatic metastatic GC and NGC to the brain for optimal patient outcomes. Chemotherapy and radiation alone without surgical resection can be considered for asymptomatic GC metastasis to the brain.

Incidental primary mediastinal choriocarcinoma diagnosed by endobronchial ultrasound-guided fine needle aspiration in a patient presenting with transient ischemic attack and stroke.

We describe a case of a 41-year old male patient with no significant prior medical history who presents with symptoms of Transient Ischemic Attack and stroke. Magnetic Resonance Imaging (MRI) of the brain identified areas of ischemia in the left side, and angiography showed occlusion of the left Medial Cerebral Artery (MCA). Cardiac Transthoracic Echocardiogram (TTE) for stroke evaluation incidentally noted a mediastinal abnormality leading to cancer work-up. Computer Tomography (CT) and 18 F-fluorodeoxyglucose (FDG) PET-CT scan of the chest incidentally revealed an avid 6 cm paraesophagial/subcarinal mass. Further diagnostic work-up with endoscopic and endobronchial ultra sound (EBUS)-guided fine needle aspiration (FNA) of the mass yielded a cytology diagnosis of Germ Cell Tumor (GCT), with choriocarcinoma component. Additionally, high plasma levels of ß-human chorionic gonadotrophin (ß-HCG) were detected with no evidence of testicular tumor. This exceedingly rare presentation for a primary mediastinal choriocarcinoma underscores the importance of complete investigation of young patients presenting with neurological symptoms compatible with ischemic events. Diagn. Cytopathol. 2017;45:738-743. © 2017 Wiley Periodicals, Inc.

Response to anti-programmed cell death protein-1 antibodies in men treated for platinum refractory germ cell cancer relapsed after high-dose chemotherapy and stem cell transplantation.

INTRODUCTION: Treatment options for patients with platinum refractory metastatic germ cell tumours (GCT) relapsing after high-dose chemotherapy and autologous stem cell transplantation are limited and survival is poor. Antibodies directed against programmed cell death protein-1 (PD-1) and programmed cell death ligand-1 (PD-L1) are currently assessed within clinical trials. We present updated data on our experience with checkpoint inhibitors as a compassionate use off-label treatment attempt for highly-pretreated patients with GCT and provide an overview of the current literature on PD-L1 expression in this rare tumour entity. PATIENTS AND METHODS: We analysed all patients with platinum refractory GCT treated with checkpoint inhibitors at our institutions between 2015 and 2017. Data were retrieved retrospectively from the patient charts. RESULTS: Seven patients were treated with nivolumab or pembrolizumab. Four patients received single-dose treatment and died shortly afterwards due to tumour progression; the remaining three patients received treatment for at least 6 months. No significant treatment toxicity was observed. Long-term tumour response was achieved in two of the three patients, both of them highly positive for PD-L1 staining. INTERPRETATION: We consider checkpoint inhibition to be efficient in carefully selected patients with platinum refractory GCT. However, predictive markers associated with tumour response are not yet known and larger prospective clinical trials are warranted.

Clinical and Radiologic Features of Pediatric Basal Ganglia Germ Cell Tumors.

BACKGROUND AND OBJECTIVE: Pediatric basal ganglia germ cell tumors (GCTs) represent a rare subset of tumors about which little is known. We aimed to summarize the clinical features and radiological findings of this special subgroup of GCTs. METHODS: From January 2010 to January 2015, 12 pediatric patients with basal ganglia GCTs were treated in our hospital. The clinical features, radiologic findings, diagnosis, treatment, and outcome of these patients were analyzed retrospectively. Our institutional diagnostic principle and treatment strategy of this disease were discussed. RESULTS: GCTs accounted for 25.5% of all the pediatric basal ganglia tumors treated in our hospital. There were 9 male and 3 female patients with a mean age of 11.5 ± 2.1 years. The most common symptom was progressive hemiparesis (n = 9, 75%). The radiologic findings showed that the lesions predominately located in caput of caudate nucleus (n = 9, 75.0%), followed by lenticular nucleus (n = 3, 25.0%). Hemiatrophy was commonly observed (n = 8, 66.7%). Eight patients were diagnosed as having germinomas, and 4 patients as having nongerminomatous germ cell tumors. During the follow-up period, preoperative neurologic dysfunctions improved in 7 patients and remained stable in 3. Two patients developed new onset of neurologic dysfunction after the treatment. Two patients suffered from tumor recurrence. CONCLUSIONS: GCTs are not as rare as considered in pediatric basal ganglia tumors. They bear some distinctive clinical and radiologic features, which can help with the accurate diagnosis and successful management of such tumors.

Uterine endometrial carcinoma with trophoblastic differentiation: a case report with literature review.

Choriocarcinoma is categorized as either gestational or nongestational depending on its origin. Nongestational choriocarcinoma originated in the trophoblastic differentiation is a rare but an aggressive tumor. This article reports a nongestational case of a uterine endometrial carcinoma with trophoblastic differentiation. A 54-year-old woman with a history of atypical genital bleeding that underwent semi-radical hysterectomy, bilateral salpingo-oophrectomy, and pelvic lymph nodes dissection. Pathological investigation showed that the tumor had endometrioid adenocarcinoma and choriocarcinomatous components. Although a series of multimodality treatments including craniotomy were performed, she died of aggressive lung and brain metastases one year after the primary surgery.

A rare case of bilateral massive hemothorax from spontaneous rupture of a primary mediastinal mixed germ cell tumor.

Spontaneous rupture of a mediastinal germ cell tumor, while rare, is always accompanied by bleeding. In this report, we describe a case of a primary mediastinal mixed germ cell tumor that presented with bilateral massive hemothorax and hemorrhagic shock. An urgent thoracotomy, which was performed to control bleeding, confirmed bilateral hemothorax secondary to a ruptured mediastinal tumor. Pathologic diagnosis revealed the mediastinal tumor to be mixed choriocarcinoma and immature teratoma, with lung metastatic choriocarcinoma. The patient recovered well from the operation and received salvage chemotherapy. Two years after diagnosis, the patient remains in remission with no evidence of disease.

[Primary choriocarcinoma of the maxillary gingival]. / Choriocarcinome gingivo-mandibulaire primitif.

INTRODUCTION: Primary non-gestational extragonadal choriocarcinomas are uncommon and their head and neck localization more exceptional. OBSERVATION: We report on a primary choriocarcinoma case of the mandibular gingivae in a 26-year-old woman who presented with pulmonary and renal metastasis. Complete response (clinical, biological and radiological) was achieved with combined chemotherapy according to APE regimen associating actinomycin, cisplatin and etoposid. The patient was free of disease 4 years after therapy completion. DISCUSSION: Primary gingival mandibular choriocarcinoma is very rare. Clinical presentation is atypical; diagnosis is based on histopathological examination and positivity for HCG. Our case report showed high chemo-sensitivity and comparable outcome to the other localizations.

Spontaneous rupture of hepatic metastasis from choriocarcinoma: a review of imaging and management.

Spontaneous rupture of hepatic metastasis causing hemoperitoneum is a rare entity. Ruptured hepatic metastasis has typical imaging findings on biphasic CT which may help in clinching the diagnosis. We present a case of rupture hepatic metastasis from choriocarcinoma in a young-female patient who was managed by transcatheter hepatic artery embolization. A brief review of the imaging features and therapeutic options for the ruptured hepatic metastases is discussed along with the case.

Primary ovarian choriocarcinoma mimicking ectopic pregnancy managed with laparoscopy -- case report.

Nongestational ovarian choriocarcinomas are extremely rare and pose diagnostic challenges in reproductive-aged patients because of elevated human chorionic gonadotrophin (hCG). A 23-year-old nulliparous Chinese woman with nongestational ovarian choriocarcinoma escaped diagnostic testing and was initially treated for an ectopic pregnancy. Three months after her first visit, a diagnostic laparoscopy demonstrated a nongestational ovarian choriocarcinoma. Comprehensive surgical staging was performed by laparoscopy. The tumor was confined to the left ovary. The patient was categorized as FIGO Stage IA. She was given four courses of combined chemotherapy after laparoscopic surgery and has been disease-free for 36 months.

Detection of primary choriocarcinoma in the mediastinum by F-18 FDG positron emission tomography.

A 31-year-old woman with a history of infection with human papilloma virus was found to have an elevated human chorionic gonadotropin level (beta-HCG) of more than 9000 IU/L in January 2006. The patient reported an irregular menstrual cycle. Extensive clinical work-up including gynecologic examinations with laparoscopy, hysteroscopy, and curettage were performed but no pathologic explanation of this elevated beta-HCG could be found. In the initial computed tomography (CT) of the abdomen and the thorax, a tumor could not be detected. Based on a clinical decision, chemotherapy with methotrexate in a dose of 1 mg/kg body weight was started. Four months after beginning of the chemotherapy the beta-HCG level dropped to 3048 IU/L. At this time a first F-18 FDG PET was performed and the findings were negative. After completion of 7 cycles of chemotherapy the beta-HCG level rose again. In a second F-18 FDG PET in August 2006 focal, intense and pathologic F-18 FDG accumulation with a SUV max. of 5.4 was seen in the mediastinum in the region of the thymus. At this time the beta-HCG level was 7000 IU/L. In a subsequent CT of the chest a retrosternal mass of 4 x 1.7 cm was detected with contrast enhancement. Resection of the tumor and thymus gland demonstrated a choriocarcinoma in part adjacent to the thymus and in part in the thymus. Postoperative beta-HCG levels dropped to 105 IU/L.

Salvage chemotherapy with high-dose carboplatin plus etoposide and autologous peripheral blood stem cell transplant in male pure choriocarcinoma: a retrospective analysis of 13 cases.

Choriocarcinoma of testes is a very rare tumor with poor prognosis, usually presenting with high serum level of human chorionic gonadotropin (hCG>50,000 mIU/ml) and advanced hematogenous metastases. Data with salvage chemotherapy has been sparse, with few long-term survivors. Between April 1996 and October 2004, 184 patients with germ cell tumor were treated at Indiana University with salvage high-dose chemotherapy (HDCT) with autologous peripheral blood stem cell transplant. Thirteen had pure choriocarcinoma or choriocarcinoma syndrome (normal testes by palpation and ultrasound, normal serum alpha-fetoprotein, advanced hematogenous metastases and high level hCG). All patients had progressed following one or two lines of cisplatin combination therapy. HDCT regimen was carboplatin 700 mg/m(2) and etoposide 750 mg/m(2) intravenously given for 3 consecutive days. A second course was given after hematopoietic recovery, usually 3-4 weeks later. The median survival was 19 months (range 5-90). Six patients (46%) are alive and continuously disease free (cNED) at a median follow-up of 37 months (range 19-75). One additional patient who relapsed after HDCT and was treated with third line chemotherapy followed by two surgical resections of choriocarcinoma is currently alive NED at +90 months from HDCT. Long-term disease-free survival and potential cure is possible with HDCT in choriocarcinoma patients that progressed after standard cisplatin combination therapy.

Metastasis detection with 18 FDG-positron emission tomography/computed tomography in gestational trophoblastic neoplasia: a report of 2 cases.

BACKGROUND: The imaging methods proposed by the International Consensus for the Diagnosis of Metastases in Trophoblastic Neoplasia are sufficient to stage the disease in most cases. However, there are 2 circumstances in which a more accurate imaging method is necessary: condemonstrate tl fusing images in conventional studies and persistent low 18 FDG-PET/CT human chorionic gonadotropin (hCG) values. Eighteen-fluoro-2-deoxyglucose-positron emission tomography/ computed tomography (18 FDG-PET/CT) can be helpful in these cases. CASES: Case 1. A 51-year-old woman was referred to the Hospital Universitario de Caracas from another hospital with a diagnosis of cervical adenosquamous carcinoma. She complained of vaginal bleeding; clinical and sonographic evaluation demonstrated a tumor in the uterus and lower third of the vagina. A new histopathologic study was performed, and choriocarcinoma (CC) was diagnosed and staged as International Federation of Gynecologists and Obstetricians (FIGO) II:12 The im aging studies were confusing, so an 18 FDG-PET/CT was performed, showing multiple nodules in the lungs. Case 2. A 25-year-old woman was admitted with symptoms that mimicked those of ectopic pregnancy; a left salpingectomy was performed, with a histopathologic report of CC. It was classified as FIGO stage 11:4. Treatment consisted of chemotherapy, hysterectomy and 1 pelvic tumor resection. Two years after discontinuing therapy, persistent low hCG values were detected without evident metastatic disease demonstrated by CT. Eighteen FDG-PET/CT showed multiple pulmonary nodules. CONCLUSION: Eighteen FDG-PET/CT seems to reveal metastases that are either confusing or not detected by other imaging techniques currently accepted in most gestational trophoblastic neoplasia protocols.