Gender-Discordant Monochorionic-Diamniotic Twins Both With 45,X/46,X, Idic(Y) Mosaicism and a Novel Deletion Within the TBC1D5 Gene

2020 ◽  
Vol 23 (5) ◽  
pp. 392-398
Author(s):  
Arati A Inamdar ◽  
Michael Diamond ◽  
Wendy Shertz
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumors ◽  
Genetic Mutation ◽  
Similar Distribution ◽  
Domain Family ◽  
Pelvic Ultrasound ◽  
Y Chromosomes ◽  
Microarray Studies ◽  
Male Twin

The occurrence of monochorionic diamniotic twins with sex discordance is a very rare phenomenon. We present a case of spontaneously conceived gender-discordant monochorionic diamniotic twins born to a 23-year-old female, both twins demonstrating similar blood karyotype 45,X/46,X, idic(Y) and a novel 99 kb mutation at 3p24.3 involving exons 15–16 of transcript NM_001134381.1 of the Tre-2/Bub2/Cdc16 Domain Family Member 5 ( TBC1D5) gene. The male twin showed no anatomic abnormalities and pelvic ultrasound revealed descended gonads. The female twin had a horseshoe-shaped kidney, normal uterus, and intra-abdominal gonads. The blood karyotype and microarray studies revealed similar distribution of X and isodicentric Y chromosome along with a novel genetic mutation which has not been previously reported. Our case findings not only report Turner syndrome mosaicism with a novel genetic mutation but also stress the importance of clinical follow-up of twins in order to evaluate the functional abnormalities associated with isodicentric Y chromosomes including germ cell tumors.

Early replacement of CT scanning by abdomino-pelvic ultrasound as a safe alternative in the follow-up of patients with germ cell tumors.

2017 ◽  
Vol 35 (6_suppl) ◽  
pp. 420-420
Author(s):  
Giulia Baciarello ◽  
Zineb Hamilou ◽  
Florence Fayard ◽  
Marco Gizzi ◽  
Laurence Albiges ◽  
...  
Keyword(s):  
Germ Cell ◽  
Ct Scan ◽  
Local Treatment ◽  
Germ Cell Tumors ◽  
Ct Scanning ◽  
Median Number ◽  
Pelvic Ultrasound ◽  
Group 2 ◽  
Group 1

420 Background: Late relapse in patients with germ cell tumors (GCT) are rare events. As there is no consensus for follow-up (FU) protocols, it is unclear if shorter duration of CT scanning is safe while reducing unnecessary exposure to radiation. Methods: At the completion of their treatment, all patients with Stage I, metastatic good or intermediate prognosis seminoma and non-seminoma (NSGT) underwent physical exam, serum tumor markers and imaging at regular intervals. We retrospectively identified 2 groups of patients with different FU strategies: those with regular CT scan of the chest, abdomen and pelvis for 3 years or less, then followed by abdomino-pelvic ultrasound (Group 1); and those with CT scanning continued beyond 3 years (Group 2). Results: Between December 1997 and March 2016, 203 patients were included: 80 (39.4%) in Group 1 and 123 (60.6%) in Group 2. The mean duration of FU was 6.7 ± 2.4 years in Group 1 and 8.1 ± 2.5 years in Group 2 (p < 0.001). After year 3 the median number of abdomino-pelvic ultrasound in Group 1 was 5 (4-6) and the median number of CT scanning in Group 2 was 6 (5-8). Five (2.4%) relapses were identified: 1 in Group 1 and 4 in Group 2. Relapse was revealed by symptoms in 2 patients with NSGT (1 in each group) who had been lost for FU. Three patients underwent local treatment (2 surgeries for teratoma relapses and 1 radiotherapy for seminoma relapse) and are still disease-free. International prognostic factors score was low and intermediate for the first 2 patients, very low for seminoma relapse and low for teratoma relapses. Conclusions: Patient follow-up by regular abdomino-pelvic ultrasound instead of CT scan appears a feasible alternative after the third year in patients with GCT, with no excess risk of incurable relapses. Prospective validation is required.

scholarly journals GCT-28. RECURRENCE PATTERN AND SURVIVAL FOR RELAPSED INTRACRANIAL NON-GERMINOMATOUS GERM CELL TUMORS: A SINGLE-INSTITUTION EXPERIENCE

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii333-iii333
Author(s):  
Lei Wen ◽  
Zhaoming Zhou ◽  
Qingjun Hu ◽  
Juan Li ◽  
Mingyao Lai ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumors ◽  
Late Recurrence ◽  
Salvage Chemotherapy ◽  
Recurrence Time ◽  
First Line ◽  
Primary Tumor Site ◽  
First Line Therapy ◽  
Line Therapy

Abstract PURPOSE Intracranial non-germinomatous germ cell tumors (NGGCTs) have lower overall survival than germinoma because relatively higher recurrence usually occurs after first line therapy. METHODS Between January 2003 and December 2018, 111 consecutive patients diagnosed with NGGCTs reviewed. Those who progressed after first line therapy were included in this study. Data of first line treatment, salvage treatment, clinicopathological features and survival were collected and analyzed. RESULTS Totally, thirty patients (30/111, 27.0%) relapsed in our cohort, including 19 patients with accurate relapse information detail, and 11 patients who died of disease progression during follow up but without exact time and site of relapse. The median OS from diagnosis of the disease was 49.2 months (95% CI: 14.1 to 84.3 months) and 3-year OS was 54.3%. Patients who received both CSI and chemotherapy relapsed less than those who received reduced volume of radiotherapy or only CSI or only chemotherapy (22.5% vs. 45.5%, p=0.034). Of 19 patients who had detail information of recurrence time and site, the median time from diagnosis of disease to relapse was 9.5 months (2.2 to 72.1 months). Regarding to recurrence site, most patients relapsed in primary site (10/19, 52.6%) or distant intracranial (6/19, 31.6%). The recurrence site of other 3 patients were spinal (n=1), ventricular (n=1) and peritoneal (n=1). CONCLUSION Protracted follow-up is recommended because late recurrence is not uncommon. Primary tumor site and distant intracranial are the most prevalent relapsed location. Patients who relapsed could benefited from both CSI and salvage chemotherapy.

scholarly journals GCT-27. CLINICAL FEATURES AND PROGNOSTIC FACTORS OF NONGERMINOMATOUS GERM CELL TUMORS IN 111 CONSECUTIVE PATIENTS IN A SINGLE INSTITUTION: IMPACT OF IRRADIATION AND CHEMOTHERAPY CYCLES ON SURVIVAL

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii333-iii333
Author(s):  
Lei Wen ◽  
Juan Li ◽  
Qingjun Hu ◽  
Mingyao Lai ◽  
Cheng Zhou ◽  
...  
Keyword(s):  
Prognostic Factors ◽  
Germ Cell ◽  
Chinese Population ◽  
Germ Cell Tumors ◽  
Tumor Diameter ◽  
Limited Data ◽  
Single Institution ◽  
Large Institution ◽  
Significant Difference

Abstract BACKGROUND Limited data is available in intracranial nongerminomatous germ cell tumors (NGGCTs) in Chinese population. Here we aimed to retrospectively assess the clinical-pathological and prognostic factors of NGGCTs in a single large institution in China. METHODS From June 2003 to December 2018, 111 consecutive NGGCTs were treated in Guangdong Sanjiu Brain Hospital, China. RESULTS The median follow-up was 36.2 months (range, 1.2 to 131.2 months). Three-year EFS and OS for 111 NGGCTs patients were 78.5%±4.5% and 82.8%±4.0%, respectively. 98 patients received CSI plus boost yielded better survival than those who received reduced-volume radiotherapy or no radiotherapy (3y OS, 86.7% vs. 51.4%, p=0.007). Patients had at least four cycles of chemotherapy were strongly associated with improved 3-year OS, compared to those received less than 4 cycles (94.1% vs. 63.6%, p＜0.001). There was no significant difference in survival of patients stratified by age, surgery, hydrocephalus, as well as tumor diameter. Multivariate analysis identified chemotherapy cycles less than 4 was the only prognostic factor that conferring a worse OS (p=0.003). Patients both received CSI and at least 4 courses of chemotherapy were correlated with lower incidence of relapse (p=0.044). CONCLUSIONS Multimodal approach including CSI and enough courses of chemotherapy was effective and should be recommended for the treatment of newly diagnosed NGGCTs in Chinese population.

Adjuvant therapy of ovarian germ cell tumors with cisplatin, etoposide, and bleomycin: a trial of the Gynecologic Oncology Group.

1994 ◽  
Vol 12 (4) ◽  
pp. 701-706 ◽  
Author(s):  
S Williams ◽  
J A Blessing ◽  
S Y Liao ◽  
H Ball ◽  
P Hanjani
Keyword(s):  
Germ Cell ◽  
Gynecologic Oncology ◽  
Cell Cancer ◽  
Germ Cell Tumors ◽  
Germ Cell Cancer ◽  
Gynecologic Oncology Group ◽  
Long Term Follow Up ◽  
Acute Myelomonocytic Leukemia

PURPOSE This study was performed to determine the effectiveness of postoperative adjuvant chemotherapy in patients with surgically resected ovarian germ cell tumors. PATIENTS AND METHODS After tumor removal and thorough surgical staging, patients were enrolled on this study and treated with three courses of cisplatin, etoposide, and bleomycin (BEP). Reassessment laparotomy was required of consenting, appropriate patients initially, but became an optional procedure in 1989. RESULTS Of 93 patients assessable on this trial, 89 are continuously free of germ cell cancer. At second-look laparotomy, two other patients were found to have small foci of immature teratoma; both remain clinically free of recurrence. One received subsequent alternate chemotherapy and one did not. Thus, 91 of 93 patients are currently free of germ cell cancer. Follow-up duration ranges from 4.0 to 90.3 months, with 67 patients monitored for longer than 2 years. Acute toxicity was moderate. One patient developed acute myelomonocytic leukemia 22 months after diagnosis. Another patient was noted to have a malignant lymphoma 69 months after protocol treatment. CONCLUSION Three courses of BEP will nearly always prevent recurrence in well-staged patients with completely resected ovarian germ cell tumors and should be given to all such patients. The development of acute leukemia as a complication of treatment is disturbing and mandates careful long-term follow-up, but is unusual and does not alter the risk-to-benefit ratio of treatment.

Importance of a new tumor market TRA-1-60 in the follow-up of patients with clinical stage I nonseminomatous testicular germ cell tumors

1997 ◽  
Vol 4 (4) ◽  
pp. 321-327 ◽  
Author(s):  
Mariël E. Gels ◽  
Jan Marrink ◽  
Petra Visser ◽  
Dirk Th. Sleijfer ◽  
Jos H. J. Droste ◽  
...  
Keyword(s):  
Germ Cell ◽  
Clinical Stage ◽  
Germ Cell Tumors ◽  
Stage I ◽  
Testicular Germ Cell Tumors ◽  
Testicular Germ Cell

scholarly journals CTNI-63. PROGNOSTIC FACTORS IN PATIENTS WITH BASAL GANGLIA GERM-CELL TUMORS: A RETROSPECTIVE ANALYSIS OF THE SINGLE CHINESE INSTITUTE EXPERIENCE FROM 2009 TO 2019

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii57-ii57
Author(s):  
Qingjun Hu ◽  
Juan Li ◽  
Mingyao Lai ◽  
Cheng Zhou ◽  
Zhaoming Zhou ◽  
...  
Keyword(s):  
Survival Rate ◽  
Basal Ganglia ◽  
Germ Cell ◽  
Retrospective Analysis ◽  
Surgical Resection ◽  
Germ Cell Tumors ◽  
Progression Free Survival ◽  
Course Of Disease ◽  
Free Survival

Abstract OBJECTIVE To evaluate the clinical factors related to the prognosis of basal ganglia germ cell tumors. METHODS A retrospective analysis of 52 cases of the basal ganglia germ cell tumors treated from January 2009 to January 2019 in the department of oncology of Guangdong Sanjiu Brain Hospital. The median age: 12 years (range: 5–32), The median course of disease: 11.7 months (range: 1–54). Thirteen cases were diagnosed by biopsy and 39 cases were diagnosed by elevated tumor markers. There were 31 patients (59.6%) diagnosed with germinomas and 21 patients (40.4%) with non-germ germ cell tumors. Univariate and multivariate survival analysis was performed. RESULTS To October 15, 2019, the median follow-up time was 30.4 months (range 2–124 months). The 5-year survival rate was 85%, and the 5-year progression-free survival rate was 84%. Multivariate analysis found whether serum AFP was greater than 100mIU / ml, (with HR: 11.441,95% CI: 2.09–47.66, P = 0.005),the degree of surgical resection(with HR 5.323 (1.19–23.812), P = 0.029), PD as the effect of radiotherapy (HR: 16.53, (1.19–23.81), P = 0.001) were independent prognostic factor affecting survival. CONCLUSION The pathological type, degree of surgical resection, and response to initial treatment can all affect survival.

Post-chemotherapy modified template retroperitoneal lymph node dissection in patients with nonseminomatous germ cell tumours

2021 ◽  
Author(s):  
Murat Zor ◽  
Sercan Yilmaz ◽  
Bahadir Topuz ◽  
Engin Kaya ◽  
Serdar Yalcin ◽  
...  
Keyword(s):  
Lymph Node ◽  
Lymph Nodes ◽  
Germ Cell ◽  
Residual Disease ◽  
Germ Cell Tumors ◽  
Operation Time ◽  
Long Term Results ◽  
Perioperative Outcomes ◽  
Retroperitoneal Lymph Node Dissection

Abstract Introduction/background: Although a full bilateral template RPLND is thought to be the standard of care for the management of postchemotherapy retroperitoneal residual masses for nonseminomatous germ cell tumors (NSGCT), in the past decade modified templates have become increasingly popular. In this study, we aimed to present our oncological and perioperative outcomes of consecutive seventeen NSGCT patients who underwent a modified template unilateral PC-RPLND for retroperitoneal residual disease. Materials and Methods: We retrospectively evaluated the medical records of 17 consecutive NSGCT patients who underwent modified template unilateral PC-RPLND in our university hospital between 2017 and 2020. All patients had normal serum tumour markers with residual disease in the retroperitoneum. Surgical characteristics including the size of the retroperitoneal residual mass, residual tumor pathology, removed lymph nodes, positive percentage of removed lymph nodes, accompanying operations, complications, mean operation time and hospital stay, and long-term results including survival and antegrade ejaculation were evaluated. Results: Eleven patients underwent left and six right-sided surgery. Median residual lymph node diameter was 41mm. Median hospitalisation time was 3.5 days. Median follow-up time was 10.5 months. Necrosis/fibrosis was seen in 6 patients, and teratoma in 11 patients. No viable tumour was seen. No patients died in the follow-up period. None of the patients relapsed during follow-up. Ten/seventeen patients had antegrade ejaculation. Conclusions: Modified template unilateral PC-RPLND leads to very good oncological outcomes with decreased perioperative morbidity as well as better antegrade ejaculation rates. Low volume retroperitoneal disease seems to fit this procedure best.

Secondary neoplasms following treatment of malignant germ cell tumors.

1993 ◽  
Vol 11 (9) ◽  
pp. 1703-1709 ◽  
Author(s):  
C Bokemeyer ◽  
H J Schmoll
Keyword(s):  
Testicular Cancer ◽  
Germ Cell ◽  
Cumulative Incidence ◽  
Lymphoblastic Leukemia ◽  
Germ Cell Tumors ◽  
German Population ◽  
Secondary Neoplasms ◽  
Secondary Neoplasia ◽  
Malignant Germ Cell Tumors

PURPOSE The current study investigates the frequency and outcome of secondary malignancies in patients treated for testicular cancer at Hannover University Medical School between 1970 and 1990. PATIENTS AND METHODS One thousand twenty-five patients with a median follow-up duration of 61 months (range, 12 to 240) were included in the analysis. Follow-up was complete in 1,018 patients (99%). Histology was seminoma in 324 patients (38.7%) and nonseminomatous germ cell tumor in 624 patients (61.3%). At the time of median follow-up, 814 patients (79.9%) were alive. RESULTS Fourteen patients developed a secondary neoplasm (cumulative incidence, 1.38%; 95% confidence interval [CI], 0.75 to 2.30); 13 patients had solid tumors and one had secondary lymphoblastic leukemia with a t(4; 11) translocation including band 11q23. None of 224 patients on surveillance strategy (with or without retroperitoneal lymph node dissection [RPLND]) developed a second neoplasm, compared with four of 413 patients (0.97%; 95% CI, 0 to 1.9) after cisplatin-based chemotherapy (not significant) and nine of 332 patients (2.7%; 95% CI, 0.9 to 4.5) after radiotherapy (P = .02). The cumulative incidence of a secondary neoplasia of 1.76% (95% CI, 0.97 to 2.94) in patients treated by radiotherapy and/or chemotherapy was significantly higher compared with patients on surveillance protocols (P = .03). Chemotherapy containing standard-dose etoposide did not increase the risk of occurrence of secondary neoplasms. A significantly elevated relative risk of 7.53 (range, 3.4 to 14.3) compared with the male German population was only found for patients treated by radiotherapy. CONCLUSION Compared with patients who have other curable malignant tumors, an incidence of 1.38 of secondary neoplasms after a median follow-up duration of 61 months is low. The highest risk for secondary neoplasia after treatment of testicular cancer is associated with the use of radiotherapy. Following chemotherapy, no significantly elevated risk was observed. In conclusion, the benefits of curative treatment far outweigh the risk of secondary cancer in patients with malignant germ cell tumors.

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