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-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.

Testicular Germ Cell Tumor and down Syndrome

2000 ◽  
Vol 86 (5) ◽  
pp. 431-433 ◽  
Author(s):  
María José Villanueva ◽  
Fátima Navarro ◽  
Antonio Sánchez ◽  
Mariano Provencio ◽  
Félix Bonilla ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Medical Literature ◽  
Germ Cell Tumors ◽  
Testicular Germ Cell Tumor ◽  
Cell Tumor ◽  
Testicular Germ Cell Tumors ◽  
Testicular Germ Cell ◽  
English Medical Literature

The association between Down syndrome and testicular germ cell tumors may be more frequent than expected according to chance, but few reports have focused on this excess. We report two cases of this association and review the English medical literature.

Evidence for Altered Hypothalamic-Hypophyseal-Gonadal Axis in Untreated Patients with Testicular Germ-Cell Tumor

1989 ◽  
Vol 75 (5) ◽  
pp. 505-509
Author(s):  
Sergio Crispino ◽  
Gabriele Tancini ◽  
Sandro Barni ◽  
Paolo Lissoni
Keyword(s):  
Testicular Cancer ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Venous Blood ◽  
Germ Cell Tumors ◽  
Testicular Germ Cell Tumor ◽  
Cell Tumor ◽  
Testicular Germ Cell Tumors ◽  
Testicular Germ Cell ◽  
Significant Difference

To investigate the function of the hypothalamic-hypophyseal-gonadal axis in testicular germ cell tumors, we evaluated gonadotropin responses to gonadotropin-releasing hormone (GnRH) in 12 untreated patients with testicular cancer (5 seminomas and 7 non-seminomas). GnRH was given i.v. at a dose of 100 μg as a bolus, and venous blood samples were collected at 0, 20, 60, and 120 min. As controls, 14 healthy males were studied. Basal levels of testosterone, estradiol and prolactin were also detected in each patient. Hormonal serum concentrations were measured by the radioimmunoassay. Mean basal testosterone, estradiol and prolactin levels were not significantly different from those of controls. Patients had a lower FSH and LH peak after GnRH than controls, without, however, any significant difference. As regards histology, nonseminoma patients lacked an FSH response to GnRH and had statistically lower mean peak levels than controls. Moreover, non-seminoma patients had statistically lower mean peak values of LH after GnRH than controls. These data show that patients with testicular germ cell tumor, and more particularly those with non-seminomas, have an altered function of the hypothalamic-hypophyseal-gonadal axis, which is already present prior to therapy. Further studies, particularly in stage I patients treated only with orchiectomy, should be performed to confirm and better define the Physiopathologic significance of the altered hypothalamic-hypophyseal-gonadal axis in testicular cancer and to clarify the alteration of fertility, which is frequently present before treatment.

scholarly journals Non Seminomatous Mixed Germ Cell Tumor of Testis with a Large Abdominal and Retroperitoneal Extension: A Case Report

2020 ◽  
Vol 22 (1-2) ◽  
pp. 88-92
Author(s):  
Rumita Kayastha ◽  
S Pradhan ◽  
R Acharya ◽  
M Aryal ◽  
A Shrestha ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Testicular Germ Cell ◽  
Mixed Germ Cell Tumor ◽  
Contrast Enhanced ◽  
Cell Components ◽  
The Right ◽  
Enhanced Computed Tomography

Primary testicular germ cell tumors (PGCT) can be classified as seminomatous and non-seminomatous germ-cell tumor (NSGCT) types. Mixed germ cell tumors (MGCT), a subtype of NSGCT, contain more than one germ cell components. Here, we present a rare case of a MGCT composed of yolk sack tumor and teratoma which had a continuous large abdominal and retroperitoneal extension. A 43 years old male presented with complaints of discomfort and swelling over the right inguinoscrotal region. Ultrasonography (USG) showed a large ill-defined heteroechoic mass in the right inguinoscrotal region with vascularity and without separate visualization of right testis. Subsequent contrast enhanced Computed Tomography (CT) showed large enhancing mass in the right scrotal sac which was continuous with large abdominopelvic and retroperitoneal mass through the right inguinal canal. Tru-Cut biopsy of the scrotal mass showed MGCT with yolk sac and teratoma component. Patient underwent 6 cycles of chemotherapy followed by Right Radical Inguinal Orchidectomy.

scholarly journals Rare presentation of a seminoma with mixed germ cell tumor in undescended inguinal testis

2019 ◽  
Vol 6 (2) ◽  
pp. 611
Author(s):  
Siddhartha Verma ◽  
Heeralal Jakhar
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Germ Cell Tumors ◽  
Testicular Tumor ◽  
Cell Tumor ◽  
Uneventful Recovery ◽  
Predisposing Factor ◽  
Rare Presentation ◽  
Testicular Germ Cell ◽  
Mixed Germ Cell Tumor

Cryptorchidism is the most common predisposing factor in the development of testicular germ cell tumors. Seminoma is the most common malignancy developing in a cryptorchid testis. A rare case of seminoma with mixed germ cell tumor in an undescended testis is reported here. A 35-year-old male patient presented with swelling in left inguinal region science 1.5year. This  was smooth, firm to hard in consistency, restricted mobility and his left scrotum was empty. Serological markers α-FP, β-HCG, LDH were raised.  Sonography and CT scan revealed a testicular tumor in undescended left inguinal testis. High inguinal orchidectomy was done. Patient had an uneventful recovery. The histopathology report of biopsy revealed a seminoma with mixed germ cell tumor. Early diagnosis and management of the undescended testicle are needed to preserve fertility and improve early detection of testicular malignancy. Therapy should begin between six months and two years of age and may consist of hormone or surgical treatment.

scholarly journals Gastrointestinal Involvement of Testicular Germ Cell Tumor: A Case Report and Literature Review

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Oluwaseun Shogbesan ◽  
Abdullateef Abdulkareem ◽  
Asad Jehangir ◽  
Sunila Byreddy ◽  
Sharon Swierczynski ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Germ Cell Tumors ◽  
Young Men ◽  
Testicular Germ Cell Tumor ◽  
Cell Tumor ◽  
Testicular Germ Cell Tumors ◽  
Testicular Germ Cell ◽  
Scrotal Swelling ◽  
Gi Bleed

Testicular germ cell tumors (GCT) are the commonest solid tumors in young men. Typical presentation is with painless scrotal swelling; however, symptoms related to complications or metastasis may be the initial presentation. Gastrointestinal (GI) metastasis is seen in about 5% of patients with germ cell tumors and presentation is commonly with GI bleed. It is important to have GCT as a differential diagnosis of GI bleed in young men presenting with unexplained anemia as direct questioning about scrotal swelling and genital examination when appropriate will guide further investigation and facilitate prompt diagnosis. We present a case of a 26-year-old man with testicular germ cell tumor and severe anemia secondary to extension and perforation of duodenum by retroperitoneal metastasis and a review of the literature on the gastrointestinal manifestations of testicular germ cell tumors.

scholarly journals Combining Hypermethylated RASSF1A Detection Using ddPCR with miR-371a-3p Testing: An Improved Panel of Liquid Biopsy Biomarkers for Testicular Germ Cell Tumor Patients

Cancers ◽  
2021 ◽  
Vol 13 (20) ◽  
pp. 5228
Author(s):  
João Lobo ◽  
Lieke M. J. van Zogchel ◽  
Mohammed G. Nuru ◽  
Ad J. M. Gillis ◽  
C. Ellen van der Schoot ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Residual Disease ◽  
Germ Cell Tumors ◽  
Testicular Germ Cell Tumor ◽  
Cell Tumor ◽  
Adult Males ◽  
Serum Samples ◽  
Liquid Biopsies ◽  
Testicular Germ Cell

The classical serum tumor markers used routinely in the management of testicular germ cell tumor (TGCT) patients—alpha fetoprotein (AFP) and human chorionic gonadotropin (HCG)—show important limitations. miR-371a-3p is the most recent promising biomarker for TGCTs, but it is not sufficiently informative for detection of teratoma, which is therapeutically relevant. We aimed to test the feasibility of hypermethylated RASSF1A (RASSF1AM) detected in circulating cell-free DNA as a non-invasive diagnostic marker of testicular germ cell tumors, combined with miR-371a-3p. A total of 109 serum samples of patients and 29 sera of healthy young adult males were included, along with representative cell lines and tumor tissue samples. We describe a novel droplet digital polymerase chain reaction (ddPCR) method for quantitatively assessing RASSF1AM in liquid biopsies. Both miR-371a-3p (sensitivity = 85.7%) and RASSF1AM (sensitivity = 86.7%) outperformed the combination of AFP and HCG (sensitivity = 65.5%) for TGCT diagnosis. RASSF1AM detected 88% of teratomas. In this representative cohort, 14 cases were negative for miR-371a-3p, all of which were detected by RASSF1AM, resulting in a combined sensitivity of 100%. We have described a highly sensitive and specific panel of biomarkers for TGCT patients, to be validated in the context of patient follow-up and detection of minimal residual disease.

scholarly journals COMBINED TREATMENT OF A PATIENT WITH A TESTICULAR GERM CELL TUMOR WITH SIGNS OF MULTIPLE ORGAN FAILURE

2019 ◽  
Vol 6 (3) ◽  
pp. 129-137
Author(s):  
T. V. Ustinova ◽  
L. V. Bolotina ◽  
A. A. Fedenko ◽  
H. S. Gevorgyan ◽  
A. A. Paichadze ◽  
...  
Keyword(s):  
Testicular Cancer ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Combined Treatment ◽  
Germ Cell Tumors ◽  
Testicular Germ Cell Tumor ◽  
Distant Metastases ◽  
Multiple Organ ◽  
Cell Tumor ◽  
Testicular Germ Cell

Testicular cancer is a rare malignant tumor. In the structure of general cancer incidence, this nosology accounts for about 1–1.5% of cases. Among this pathology, about 90–95% is due to testicular germ cell tumors. Currently, testicular cancer is a potentially treatable solid tumor with a 10-year survival rate of more than 95% upon timely diagnosis and proper treatment. In this regard, early diagnosis and treatment of this pathology is an urgent task today. The article presents a clinical observation of the treatment of a patient with a testicular germ cell tumor. The presented clinical case demonstrates the successful conduct of neoadjuvant chemotherapy and further orchifuniculectomy in the presence of distant metastases namely in case of a non-seminomic form of a testicular germ cell tumor. The approach to treating patients with testicular tumors must be individualized and take into account both the potential gain and the potential risks of the treatment being performed.

scholarly journals Nephroblastoma Arising from Primary Testicular Germ Cell Tumor: A Case Report and Literature Review

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Houda Alatassi ◽  
Brittany E. O’Bryan ◽  
Jamie C. Messer ◽  
Zhenglong Wang
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Embryonal Carcinoma ◽  
Lung Metastases ◽  
English Literature ◽  
Germ Cell Tumors ◽  
Testicular Germ Cell Tumor ◽  
Cell Tumor ◽  
Testicular Germ Cell ◽  
Mixed Germ Cell Tumor

Adult extrarenal nephroblastoma is a very rare tumor. Nephroblastoma arising from primary testicular germ cell tumor is exceedingly rare. To our knowledge, only three cases have been reported in the English literature. We report a case of a 19-year-old man who presented with a large right testicle. Image studies showed a large retroperitoneal mass along with liver and lung metastases. Orchiectomy demonstrated a mixed germ cell tumor composed of yolk sac tumor, embryonal carcinoma, and mature and immature teratoma with a significant portion of nephroblastoma. The patient received chemotherapy and no recurrence was noted during six months of followup. WT-1 expression was also studied due to the lack of consistency of its expression in testicular nephroblastoma in the literature. We also present a discussion and review of the literature due to its rarity, which indicate an adverse prognosis for patients with nephroblastoma components receiving standard chemotherapeutical regimes for testicular germ cell tumors.

scholarly journals Malignant ovarian germ cell tumors in children: A single centre experience

2016 ◽  
Author(s):  
Priyanka Soni ◽  
Shalini Mishra ◽  
Sandeep Jain ◽  
Gauri Kapoor
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Mature Teratoma ◽  
Germ Cell Tumors ◽  
Stage Iv ◽  
Contralateral Side ◽  
Cell Tumor ◽  
Excellent Outcome ◽  
Mixed Germ Cell Tumor ◽  
Single Centre Experience

Background: Germ-cell tumors (GCT) are the commonest ovarian neoplasm in the first two decades of life. Aim: To study the profile of ovarian GCT in children and their outcome. Methods: Retrospective study of all cases of malignant ovarian GCT in the pediatric age (up to 18 years) was done from January 2002 to December 2015. The medical records of all admitted cases during this period were reviewed and the data was analysed with respect to age at diagnosis, clinical presentation, tumor markers, surgical stage, tumor histology, therapy, clinical course, and outcome. Results: Girls with malignant ovarian GCT were seen at our institute during the study period. Out of these 25 underwent treatment. Mean age at presentation was 11.7 years (range: 3-18 years). Abdominal pain was the commonest presentation. Twelve (47.3%) had right sided disease, 11 (42%) had left sided disease and 2 had bilateral disease. Twelve cases (57.8%) were diagnosed as stage I disease, 5 (10.5%) as stage II, 7 (26.3%) as stage III and 1 (5.2%) as stage IV. Elevated AFP >1000 was found in 9 (47.3%), elevated B-HCG (>50) in 7 (42%) and elevated LDH (>1000) in 7 (36.8%) patients at presentation. Twenty (73.6%) patients underwent surgery prior to chemotherapy out of which 4 (21%) patients presented after undergoing surgery at other centre. Fourteen (57.8%) patients received 4 cycles of BEP based chemotherapy, 6 (21%) received 3 cycles, 2 (10.5%) received 2 cycles and 1 patient did not receive any chemotherapy as it was mature teratoma. The most common histology was dysgerminoma in 8 (42%) patients followed by mixed germ cell tumor in 4 (21%), teratoma in 3 (15.7%), embryonal carcinoma in 2 (10.5%) and yolk sac tumor and mature teratoma in 1 patient each. Four (21%) patients had relapse on contralateral side which was salvaged. 1 patient presented with relapse who underwent only surgery outside, 1 patient had ovarian torsion. Median follow up is 27months. The event free survival rate was 78.9%. Conclusion: This study confirms an excellent outcome for girls with ovarian germ cell tumor. Patients with advanced surgical stage relapsed frequently. The mainstay of treatment is fertility preserving surgery and cisplatin-based chemotherapy.

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