AIMS: Embryonal tumours with PLAGL1 or PLAGL2 amplification (ET, PLAGL) show substantial heterogeneity regarding their clinical characteristics and have been treated inconsistently, resulting in diverse outcomes. In this study, we aimed to evaluate the clinical behaviour of ET, PLAGL and elucidate their response pattern across the different applied treatment regimens. METHODS: We conducted an in-depth retrospective analysis of clinical and serial imaging data of 18 patients with ET, PLAGL (nine each of PLAGL1 and PLAGL2 amplified). RESULTS: Patients with PLAGL1-amplified tumours (ET, PLAGL1) had fewer relapses (3/9), while PLAGL2-amplified tumours (ET, PLAGL2) were prone to early relapse or progression (8/9) and to distant, leptomeningeal and intraventricular relapses. Progression-free survival differed significantly between the subtypes (log-rank test, p = 0.0055). Postoperative treatment included chemotherapy (n = 17, various protocols), alone (n = 8) or combined with radiotherapy (n = 9). Responses to chemotherapy were observed in both subtypes, and incomplete resection was not associated with inferior survival. All three survivors with ET, PLAGL2 were treated with induction and high-dose chemotherapy with (n = 1-low-dose CSI and boost) or without (n = 2) radiotherapy, whereas five patients with less intensive chemotherapy relapsed. All six survivors with ET, PLAGL1 were treated with conventional chemotherapy regimens, with (n = 4-local radiotherapy n = 3; CSI and boost n = 1) or without (n = 2) radiotherapy. Two patients with ET, PLAGL1 relapsed after 8 years. CONCLUSIONS: Adjuvant therapy should be considered for all ET, PLAGL patients: Patients with ET, PLAGL2 might benefit from intensified chemotherapy regimens. In contrast, patients with ET, PLAGL1 showed superior outcomes without high-dose chemotherapy or craniospinal irradiation.

• MeSH
• Gene Amplification MeSH
• Child MeSH
• DNA-Binding Proteins * genetics   MeSH
• Adult MeSH
• Neoplasms, Germ Cell and Embryonal * genetics   therapy   pathology   diagnostic imaging   MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Central Nervous System Neoplasms * genetics   therapy   pathology   diagnostic imaging   MeSH
• Brain Neoplasms * genetics   therapy   MeSH
• Child, Preschool MeSH
• Retrospective Studies MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Comparative Study MeSH

Teratomy jsou nádory ze zárodečných buněk, které mohou obsahovat různě diferencované tkáně lidského organizmu. Výskyt teratomů v oblasti hlavy a krku je velmi raritní. Typicky se tyto nádory vyskytují ve vaječnících, varlatech či sakrokokcygeální oblasti. Následující kazuistika popisuje případ 22letého muže s narůstající rezistencí spodiny dutiny ústní, po jejíž exstirpaci byl histologicky prokázán teratom.

Teratomas are tumors derivated from germinal cells, which can contain various differentiated tissues of the human body. Appearance of teratomas in the head and neck area is very rare. Typically, these tumors are found in ovaries, testicles, and the sacrococcygeal area. Fol lowing a case report describing a 22 year old man with increasing resistance on the floor of the oral cavity, after whose excision a teratoma was histologically proven.

• MeSH
• Diagnosis, Differential MeSH
• Neoplasms, Germ Cell and Embryonal diagnostic imaging   diagnosis   classification   MeSH
• Humans MeSH
• Young Adult MeSH
• Head and Neck Neoplasms diagnostic imaging   diagnosis   classification   MeSH
• Teratoma * diagnostic imaging   diagnosis   classification   MeSH
• Mouth * pathology   MeSH
• Check Tag
• Humans MeSH
• Young Adult MeSH
• Male MeSH
• Publication type
• Case Reports MeSH

BACKGROUND AND PURPOSE: CNS embryonal tumor with pleomorphic adenoma gene-like 1 (PLAGL1)/pleomorphic adenoma gene-like 2 (PLAGL2) amplification (ET, PLAGL) is a newly identified, highly malignant pediatric tumor. Systematic MRI descriptions of ET, PLAGL are currently lacking. MATERIALS AND METHODS: MRI data from 19 treatment-naïve patients with confirmed ET, PLAGL were analyzed. Evaluation focused on anatomic involvement, tumor localization, MRI signal characteristics, DWI behavior, and the presence of necrosis and hemorrhage. Descriptive statistics (median, interquartile range, percentage) were assessed. RESULTS: Ten patients had PLAGL1 and nine had PLAGL2 amplifications. The solid components of the tumors were often multinodular with heterogeneous enhancement (mild to intermediate in 47% and intermediate to strong in 47% of cases). Nonsolid components included cysts in 47% and necrosis in 84% of the cases. The tumors showed heterogeneous T2WI hyper- and isointensity (74%), relatively little diffusion restriction (ADC values less than contralateral normal-appearing WM in 36% of cases with available DWI), and tendencies toward hemorrhage/calcification (42%). No reliable distinction was found between PLAGL1- and PLAGL2-amplified tumors or compared with other embryonal CNS tumors. CONCLUSIONS: The study contributes to understanding the imaging characteristics of ET, PLAGL. It underscores the need for collaboration in studying rare pediatric tumors and advocates the use of harmonized imaging protocols for better characterization.

• MeSH
• Gene Amplification MeSH
• Child MeSH
• DNA-Binding Proteins genetics   MeSH
• Neoplasms, Germ Cell and Embryonal diagnostic imaging   pathology   MeSH
• Infant MeSH
• Humans MeSH
• Magnetic Resonance Imaging * methods   MeSH
• Adolescent MeSH
• Tumor Suppressor Proteins MeSH
• Central Nervous System Neoplasms diagnostic imaging   pathology   MeSH
• Brain Neoplasms diagnostic imaging   pathology   MeSH
• Child, Preschool MeSH
• Cell Cycle Proteins MeSH
• RNA-Binding Proteins MeSH
• Transcription Factors genetics   MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

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.

• MeSH
• Databases, Factual MeSH
• Adult MeSH
• Carcinoma, Embryonal diagnostic imaging   MeSH
• Neoplasms, Germ Cell and Embryonal diagnostic imaging   MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Ovarian Neoplasms diagnostic imaging   MeSH
• Choriocarcinoma, Non-gestational diagnostic imaging   MeSH
• Retrospective Studies MeSH
• Aged MeSH
• Ultrasonography MeSH
• Women's Health Services MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH
• Geographicals
• Italy MeSH

Germinální nádory CNS (centrální nervový systém) jsou vzácně se vyskytující malignity dětského věku, adolescentů a mladých dospělých. V úvodu je uvedena charakteristika těchto nádorů, jejich histologické typy, principy léčby a prognóza. Kazuistika popisuje klinický nález, diagnostický a léčebný postup, poléčebný průběh a terapii pozdní recidivy germinálního nádoru CNS. Kazuistika potvrdila vysokou radio i chemosenzitivitu této malignity.

Intracranial germ cell tumours are rare malignancies of childhood, adolescence and young adults. The tumour characteristics, histology types, principles of treatment and their prognosis are described in the introduction. The case describes clinical finding, diagnostic and therapeutic procedure, result of treatment and late recurrence of the malignancy and its treatment in a young woman. The case confirmed a high radio- and chemosensitivity of intracranial germ cell tumours.

• MeSH
• Radiation Dosage MeSH
• Adult MeSH
• Photons therapeutic use   MeSH
• Neoplasms, Germ Cell and Embryonal * surgery   diagnostic imaging   drug therapy   radiotherapy   therapy   MeSH
• Carboplatin administration & dosage   MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Brain surgery   diagnostic imaging   MeSH
• Central Nervous System Neoplasms * surgery   diagnostic imaging   drug therapy   radiotherapy   therapy   MeSH
• Proton Therapy MeSH
• Radiotherapy methods   MeSH
• Recurrence MeSH
• Treatment Outcome MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

• MeSH
• Child MeSH
• Neoplasms, Germ Cell and Embryonal diagnostic imaging   epidemiology   therapy   MeSH
• Hemangioma epidemiology   MeSH
• Humans MeSH
• Lymphangioma epidemiology   MeSH
• Soft Tissue Neoplasms diagnosis   therapy   MeSH
• Infant, Newborn, Diseases * diagnostic imaging   MeSH
• Neuroblastoma diagnostic imaging   epidemiology   MeSH
• Infant, Newborn MeSH
• Retinoblastoma diagnostic imaging   epidemiology   drug therapy   MeSH
• Teratoma epidemiology   therapy   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Infant, Newborn MeSH

• MeSH
• Biomarkers analysis   MeSH
• Diagnosis, Differential MeSH
• Adult MeSH
• Enoxaparin therapeutic use   MeSH
• Neoplasms, Germ Cell and Embryonal * diagnostic imaging   drug therapy   MeSH
• Ifosfamide therapeutic use   MeSH
• Humans MeSH
• Mediastinal Neoplasms * diagnostic imaging   drug therapy   MeSH
• Tomography, X-Ray Computed MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Publication type
• Case Reports MeSH