Advances in Molecular Markers of Germ Cell Cancer in Patients with Disorders of Sex Development

Author(s):  
Yvonne G. van der Zwan ◽  
Martine Cools ◽  
Leendert H.J. Looijenga
2019 ◽  
Vol 20 (20) ◽  
pp. 5017 ◽  
Author(s):  
Leendert H. J. Looijenga ◽  
Chia-Sui Kao ◽  
Muhammad T. Idrees

The risk of gonadal germ cell cancer (GGCC) is increased in selective subgroups, amongst others, defined patients with disorders of sex development (DSD). The increased risk is due to the presence of part of the Y chromosome, i.e., GonadoBlastoma on Y chromosome GBY region, as well as anatomical localization and degree of testicularization and maturation of the gonad. The latter specifically relates to the germ cells present being at risk when blocked in an embryonic stage of development. GGCC originates from either germ cell neoplasia in situ (testicular environment) or gonadoblastoma (ovarian-like environment). These precursors are characterized by presence of the markers OCT3/4 (POU5F1), SOX17, NANOG, as well as TSPY, and cKIT and its ligand KITLG. One of the aims is to stratify individuals with an increased risk based on other parameters than histological investigation of a gonadal biopsy. These might include evaluation of defined susceptibility alleles, as identified by Genome Wide Association Studies, and detailed evaluation of the molecular mechanism underlying the DSD in the individual patient, combined with DNA, mRNA, and microRNA profiling of liquid biopsies. This review will discuss the current opportunities as well as limitations of available knowledge in the context of predicting the risk of GGCC in individual patients.


2005 ◽  
Vol 173 (4S) ◽  
pp. 119-119 ◽  
Author(s):  
Gerald Puehse ◽  
Armin Secker ◽  
Sebastian Kemper ◽  
Lothar Hertle ◽  
Sabine Kliesch

1984 ◽  
Vol 104 (4_Supplb) ◽  
pp. S122
Author(s):  
K. MANN ◽  
G. SPÖTTL ◽  
B. PUTZ ◽  
H. J. KARL

1994 ◽  
Vol 12 (4) ◽  
pp. 701-706 ◽  
Author(s):  
S Williams ◽  
J A Blessing ◽  
S Y Liao ◽  
H Ball ◽  
P Hanjani

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.


2010 ◽  
Vol 102 (3) ◽  
pp. 187-192 ◽  
Author(s):  
Tine H. Schnack ◽  
Gry Poulsen ◽  
Charlotte Myrup ◽  
Jan Wohlfahrt ◽  
Mads Melbye

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