scholarly journals GCT-34. ELUCIDATION OF THE MECHANISMS OF TUMORIGENESIS IN INTRACRANIAL GERM CELL TUMOR BY WHOLE GENOME SEQUENCE

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii334-iii335
Author(s):  
Yuki Yamagishi ◽  
Hirokazu Takami ◽  
Daichi Narushima ◽  
Yuko Matsushita ◽  
Eiji Sugihara ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Genome Sequence ◽  
Germ Cell Tumors ◽  
Genetic Alterations ◽  
Cell Tumor ◽  
Whole Genome Sequence ◽  
Whole Genome ◽  
Intracranial Germ Cell Tumor ◽  
Structural Abnormalities

Abstract Intracranial germ cell tumors (iGCT) are heterogenous group of primary brain tumors that consist of various subtype, and driver genetic alterations in iGCTs remain largely unknown. We have previously reported in a study of whole exome sequence that iGCTs frequently harbored mutations in the KIT gene and its downstream MAPK/PI3K pathway, regardless of tumor subtype. However, no mutations were detected in about one-quarter of germinomas and half of non-germinomatous germ cell tumors. A genome-wide methylation profiling revealed that only germinomas exhibited extreme DNA hypomethylation among iGCTs. Moreover, in mixed iGCT tumors which contained more than one tumor subtypes, each component exhibited distinct methylation status depending on the subtype, while they shared the same mutations. These data suggested that not only mutations in the coding region as previously reported, but also genetic alterations in regulatory regions including promoters and enhancers as well as non-coding RNA genes may be involved in the tumorigenesis of iGCTs. In order to comprehensively search for driver gene alterations, we performed whole genome sequence in 18 paired tumor blood samples from iGCT tumors (16germinomas and two yolk sac tumors (YST)) registered in the Intracranial Germ Cell Tumor Genome Analysis Consortium. In a preliminary analysis of four cases, YSTs harbored a significantly higher number of structural abnormalities, compared with germinomas. Of note, 62 structural abnormalities were clustered within the small genomic region of 95Mb at 1q21-44 in one YST case, suggesting a possibility of chromothripsis. A full analysis of somatic alterations is underway and will be reported.

scholarly journals MPC-08 CLINICOPATHOLOGICAL ANALYSIS OF 12P GAIN IN INTRACRANIAL GERM CELL TUMORS

2019 ◽  
Vol 1 (Supplement_2) ◽  
pp. ii23-ii23
Author(s):  
Kaishi Satomi ◽  
Hirokazu Takami ◽  
Shintaro Fukushima ◽  
Yoichi Nakazato ◽  
Shota Tanaka ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Copy Number ◽  
Mature Teratoma ◽  
Methylation Status ◽  
Germ Cell Tumors ◽  
Copy Number Variations ◽  
Cell Tumor ◽  
Testicular Germ Cell ◽  
Intracranial Germ Cell Tumor

Abstract BACKGROUND Gain of short arm of chromosome 12 (12p) is commonly observed in testicular germ cell tumors (tGCTs). 12p gain is also frequently seen in intracranial GCTs (iGCTs). However, little is known about the clinical significance of 12p gain in iGCTs. MATERIALS AND METHODS We have collected over 200 fresh frozen tissue samples of iGCTs through the Intracranial Germ Cell Tumor Genome Analysis Consortium in Japan. Firstly, we analyzed DNA methylation status in 83 iGCTs, 3 seminomas and 6 normal control samples using Infinium Human Methylation 450K BeadChip array (Illumina, CA). Idat files were processed using R (Version 3.5.3) and minfi package (1.30.0) to generate copy number variations. Compared with average genome-wide copy number level, 12p gain was determined. Then, 58 iGCTs with clinicopathological information were analyzed for progression-free survival (PFS) and overall survival (OS). Those tumors that consist of only either germinoma and/or mature teratoma components were classified as Favorable Histology (FH) and all the others that contains malignant histological components were classified as Unfavorable Histology (UFH). RESULT 12p gain was observed in 100% (3/3) of seminoma, 13.6% (3/22) of germinoma, 16.7% (1/6) of mature teratoma, 25% (1/4) of immature teratoma, 55% (11/20) of mixed germ cell tumor, 100% (4/4) of yolk sac tumor, 100% (1/1) of embryonal carcinoma, and 100% (1/1) of choriocarcinoma. In total, 44.6% (37/83) of iGCT showed 12p gain. Regarding histological classification, the 12p gain rate in UFH (72%, 18/25) was significantly higher than that in FH (12.1%, 4/33, P<0.01). Both PFS and OS were significantly worse in iGCTs with 12p gain (PFS: P=0.027, OS: P=0.0012). DISCUSSION 12p gain can be a molecular marker to predict prognosis and histological malignancy in iGCTs.

scholarly journals GCT-17. WHAT IS THE CLINICAL OUTCOME OF PROTON BEAM THERAPY FOR PATIENTS WITH INTRACRANIAL GERM CELL TUMOR IN KOREA?

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii331-iii331
Author(s):  
Sang Hee Youn ◽  
Joo-Young Kim
Keyword(s):  
Basal Ganglia ◽  
Clinical Outcome ◽  
Germ Cell ◽  
Proton Beam ◽  
Germ Cell Tumor ◽  
Germ Cell Tumors ◽  
Proton Beam Therapy ◽  
Cell Tumor ◽  
Intracranial Germ Cell Tumor ◽  
Failure Patterns

Abstract PURPOSE To evaluate the clinical outcome of patients with intracranial germ cell tumor treated with proton beam therapy (PBT). MATERIALS AND METHODS Fifty-seven patients with intracranial germ cell tumor treated with PBT between 2009 and 2016 were retrospectively analyzed. RESULTS Median follow-up duration was 63.7 months (range, 5.6–204.5). Thirty-seven patients (64.9%) were pure germinoma and 20 patients (35.1%) were non-germinomatous germ cell tumor (NGGCT). All patients except 2 patients received chemotherapy before PBT. Twenty-one patients (36.8%) of localized germinoma were treated with whole ventricle irradiation (WVI), while 36 (63.2%) patients who were diagnosed as disseminated germinoma or NGGCT received cranio-spinal irradiation (CSI). Two patients with pure germinoma in basal ganglia showed disease relapse at 3.0 and 6.9 years after PBT at the primary site and pituitary gland, respectively. There was one patient with NGGCT who died of chemotherapy-related mortality at 4.7 years after PBT while her disease was complete remission. The 7-year progression-free survival and overall survival were 70.8% and 100% for focal germinoma, 100% and 100% for disseminated germinoma, 100% and 100% for focal NGGCTs, and 100% and 80.0% for disseminated NGGCTs, respectively. CONCLUSIONS PBT of pure germinoma resulted in comparable clinical outcomes to that with photon radiotherapy. Our result for NGGCT is also excellent compared to other reports. Failure patterns of germ cell tumors originating in basal ganglia needs to be assessed in large pooled data.

Possible common origin of α-fetoprotein- and human chorionic gonadotropin—secreting cells in intracranial germ cell tumor

1998 ◽  
Vol 88 (3) ◽  
pp. 576-580 ◽  
Author(s):  
Haruhiko Kishima ◽  
Keiji Shimizu ◽  
Yasuyoshi Miyao ◽  
Eiichiro Mabuchi ◽  
Toru Hayakawa
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Chorionic Gonadotropin ◽  
Germ Cells ◽  
Human Chorionic Gonadotropin ◽  
Cultured Cells ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Intracranial Germ Cell Tumor ◽  
Surgical Specimen

✓ A primary intracranial germ cell tumor in a 16-year-old boy secreted both a-fetoprotein (AFP) and human chorionic gonadotropin (HCG). The tumor, located in the right thalamus, contained germinomatous, trophoblastic, and endodermal sinus components. To identify AFP- and HCG-secreting cells, germ cells from the surgical specimen were cultured in vitro. These cultured cells secreted AFP and HCG for 10 weeks, and immunohistochemical studies showed that some of the cells secreted both AFP and HCG. These findings suggest that multipotential germ cells migrate to the encephalic region and may become germ cell tumors containing various types of tissue.

Successful Combination Chemotherapy (Cisplatinum, Vinblastine, and Bleomycin) against Peritoneal Dissemination of Intracranial Germ Cell Tumor

Neurosurgery ◽  
1986 ◽  
Vol 18 (6) ◽  
pp. 802-804 ◽  
Author(s):  
Eiji Kumura ◽  
Norio Arita ◽  
Toru Hayakawa ◽  
Yukitaka Ushio ◽  
Hiroyuki Nakata ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Combination Chemotherapy ◽  
Peritoneal Dissemination ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Intracranial Germ Cell Tumor ◽  
Computed Tomographic ◽  
The Third ◽  
Intracranial Germ Cell Tumors

Abstract We found combination chemotherapy with cisplatinum, vinblastine, and bleomycin (PVB therapy) effective in the treatment of a patient with a pineal germ cell tumor with peritoneal dissemination. The metastatic complication may have been attributable to the ventriculoperitoneal shunt tube. After the first course of PVB therapy, the disseminated tumors were decreased in size; no residual tumors were detected after the third course by laparoscopic examination, computed tomographic scanning, or echogram. Our results suggest that combined PVB therapy is effective in the treatment of extraneural metastasis from intracranial germ cell tumors. (18:802-804, 1986)

scholarly journals GCT-43. GAIN OF SHORT ARM OF CHROMOSOME 12 IS A MOLECULAR MARKER TO PREDICT PROGNOSIS AND REPRESENTS AN EARLY EVENT IN TUMORIGENESIS IN INTRACRANIAL GERM CELL TUMORS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii336-iii336
Author(s):  
Kaishi Satomi ◽  
Hirokazu Takami ◽  
Shintaro Fukushima ◽  
Yoichi Nakazato ◽  
Shota Tanaka ◽  
...  
Keyword(s):  
Molecular Marker ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Mature Teratoma ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Chromosome 12 ◽  
Early Event ◽  
Testicular Germ Cell ◽  
Intracranial Germ Cell Tumor

Abstract Gain of short arm of chromosome 12 (12p) is commonly observed in testicular germ cell tumors (tGCTs) and also seen in intracranial GCTs (iGCTs). However, little is known about the clinical significance of 12p gain in iGCTs. We have collected over 200 fresh frozen tissue samples of iGCTs through the Intracranial Germ Cell Tumor Genome Analysis Consortium in Japan. Firstly, we analyzed DNA methylation profile in 83 iGCTs, 3 tGCTs (seminomas) and 6 normal control samples using Infinium Human Methylation 450K BeadChip array (Illumina, CA, USA) in order to determine 12p gain status. Then, fluorescence in situ hybridization (FISH) study was carried out on 3 mixed iGCT cases using 12p/CEP12 probe (Abbott Molecular, Abbott park, IL, USA). Lastly, 58 iGCTs with clinicopathological information were analyzed for progression-free survival (PFS) and overall survival (OS). Gain of 12p was observed in 100% (3/3) of seminoma, 14% (3/22) of germinoma, 17% (1/6) of mature teratoma, 25% (1/4) of immature teratoma, 55% (11/20) of mixed germ cell tumor, 100% (4/4) of yolk sac tumor, 100% (1/1) of embryonal carcinoma, and 100% (1/1) of choriocarcinoma. In total, 45% (37/83) of iGCT showed 12p gain. Different histological components in each mixed GCT shared the same 12p copy number status within each mixed GCT case. Both PFS and OS were significantly worse in iGCTs with 12p gain (PFS: P=0.027, OS: P=0.0012). Gain of 12p can be a molecular marker to predict prognosis and represents an early event in tumorigenesis prior to histological differentiation in iGCTs.

scholarly journals GCT-06. DIAGNOSIS OF A RARE CASE OF RECURRENT GERM CELL TUMOR BY CSF PLACENTAL ALKALINE PHOSPHATASE PRESENTING WITH DIFFUSE INTRAAXIAL ABNORMALITY IN THE LOWER BRAINSTEM

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii329-iii329
Author(s):  
Hiroki Yamada ◽  
Tomohiro Abiko ◽  
Hirokazu Fujiwara ◽  
Kazunari Yoshida ◽  
Hikaru Sasaki
Keyword(s):  
Alkaline Phosphatase ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Rare Case ◽  
Cervical Spinal Cord ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Placental Alkaline Phosphatase ◽  
Steroid Pulse ◽  
Platinum Based Chemotherapy

Abstract INTRODUCTION Germ cell tumors in the central nervous system (CNS) typically arise either at suprasellar and/or pineal region, and occasionally at basal ganglia. We report a case of diagnostically challenging, recurrent germ cell tumor presented with diffuse intraaxial abnormality in and across the lower brainstem, which was diagnosed by the elevated placental alkaline phosphatase (PLAP) level in cerebrospinal fluid (CSF). CASE DESCRIPTION: A 28-year-old man had been treated by chemoradiotherapy at the previous hospital for bifocal suprasellar and pineal lesions with the provisional diagnosis of germinoma without histological confirmation. Three years later, he presented with progressive weakness of bilateral extremities for weeks. Magnetic resonance imaging showed a diffuse, bilaterally symmetric high intensity lesion on T2-weighted image with slight contrast enhancement across the ventral side of the medulla oblongata to the upper cervical spinal cord. Serum and CSF hCG, hCG-β, and AFP were all negative. Since the image findings were atypical for recurrent germ cell tumor, some kind of myelitis was initially suspected. Therefore, steroid pulse therapy was administered. However, the patient’s symptom was still gradually progressing. Then, the CSF PLAP turned out to be positive, indicating the recurrence of germinoma. Accordingly, platinum-based chemotherapy was administered, and the imaging findings, patient’s symptoms, and CSF PLAP began to improve. The patient is to be treated with radiotherapy following chemotherapy. CONCLUSION We report a rare case of CNS germ cell tumor that presented with diffuse intraaxial lesion in the lower brainstem in which examination of CSF PLAP was extremely useful.

Intracranial germ cell tumor mimicking granulomatous inflammation

2013 ◽  
Vol 61 (4) ◽  
pp. 433 ◽  
Author(s):  
Sumit Thakar ◽  
SunilV Furtado ◽  
Nandita Ghosal ◽  
AlangarS Hegde
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Granulomatous Inflammation ◽  
Cell Tumor ◽  
Intracranial Germ Cell Tumor

scholarly journals A rare case of mixed germ cell tumor in a teenage girl: a case report

2017 ◽  
Vol 6 (6) ◽  
pp. 2663
Author(s):  
Faraz S. Vali ◽  
Amit Kyal ◽  
Parul I. Chaudhary ◽  
Sujatha Das ◽  
Aprateem Mukherjee ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Embryonal Carcinoma ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Ca 125 ◽  
Gestational Choriocarcinoma ◽  
Mixed Germ Cell Tumor ◽  
Initial Surgery ◽  
Alpha Feto Protein

Germ cell tumors represent only 20% to 25% of all benign and malignant ovarian neoplasms. Mixed germ cell tumors are a rare variety of non–dysgerminomatous germ cell tumors. They contain two or more elements; the most frequent combination being a dysgerminoma and an EST (Endodermal Sinus Tumor). We present a case of malignant mixed germ cell tumor comprising of yolk sac tumor, embryonal carcinoma and choriocarcinoma. A 13-year-old girl presented with a huge 25 x 18 cm mass in abdomen with raised values of CA-125, hCG, AFP (alpha-feto protein) and LDH (lactate dehydrogenase). She underwent laparotomy followed by unilateral salpingoopherectomy and infracolic omentectomy. Histopathology report revealed malignant mixed germ cell tumor comprising predominantly of EST with elements of embryonal carcinoma and non-gestational choriocarcinoma. Following surgery, she was started on adjuvant chemotherapy (Bleomycin, Etoposide and Cisplatin regimen). Mixed germ cell tumor (YST/EST, non-gestational choriocarcinoma and embryonal carcinoma) is a very rare tumor. Careful initial surgery with adequate staging biopsies followed by combination chemotherapy can greatly improve the prognosis of these patients

scholarly journals HCG-producing Primary Intracranial Germ Cell Tumor with Probable Subsequent Transformation into Rhabdomyosarcoma: A Case Report

1997 ◽  
Vol 6 (8) ◽  
pp. 550-554
Author(s):  
Shinzo Yoshida ◽  
Yoshifumi Oda ◽  
Yasuto Kawa.kami ◽  
Sadahiko Ban ◽  
Shinichi Sato ◽  
...  
Keyword(s):  
Case Report ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Cell Tumor ◽  
Intracranial Germ Cell Tumor ◽  
Subsequent Transformation

scholarly journals Pediatric Germ Cell Tumors: An Experience of 7 Years in a Tertiary Hospital of Bangladesh

2020 ◽  
Vol 35 (2) ◽  
pp. 119-122
Author(s):  
SM Rashed Zahangir Kabir ◽  
Md Waheed Akhtar ◽  
Farida Yasmin
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Tertiary Care ◽  
Germ Cell Tumors ◽  
Yolk Sac ◽  
Cell Tumor ◽  
Yolk Sac Tumor ◽  
Treatment Modalities ◽  
Care Hospital ◽  
Childhood Malignancies

Introduction: Germ cell tumors are a group of tumors with different clinical presentation and histological and biological characteristics. Malignant germ cell tumors occur at all ages with a trend of bimodal distribution in infancy and adolescence. Objective: To evaluate the demographic characteristics, distribution of different types of germ cell tumor, treatment modalities and outcome of germ cell tumor in children in a tertiary care hospital of Bangladesh. Methods: In this retrospective study, data regarding age and sex distribution, location, types of tumors, management of germ cell tumor in children were retrieved from the medical records of pediatric oncology department in NICRH, Dhaka from 2008 to 2014. Results: Out of total 87 patients female were 50 and male 37. Most of the patients were up to 5 years of age. The gonadal germ cell tumors (80%) were more than extragonadal tumor (20%) in both male and female patients. The most common germ cell tumor was dysgerminoma (32%) followed by yolk sac tumor (29.8%) and teratoma (19.5%). Yolk Sac Tumor (51.4%) was the most common in male and dysgerminoma (56%) the commonest in female. Out of 87, seventy two (82.7%) received chemotherapy following surgery. Among those 72 patients who received chemotherapy 49 (68 %) patients completed their treatment. Until the last follow up 71.4% patients remained alive and tumor free. Conclusion: Germ cell tumors are the most variable tumor of all childhood malignancies that has difference in age, sex, location and histological subtypes. Gonadal tumors have better prognosis than extragonadal tumors in both the sex. DS (Child) H J 2019; 35(2) : 119-122

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