Characteristics of a single-centre series of familial testicular germ cell tumours

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 10039-10039 ◽  
Author(s):  
J. Coffey ◽  
R. A. Huddart ◽  
A. R. Norman ◽  
D. Dudakia ◽  
M. R. Stratton ◽  
...  

10039 Background: Testicular germ cell tumors (TGCTs) account for 1% of all male cancers with increasing incidence rates documented. A family history of TGCT occurs in 2% of patients, conferring relative risks of 8–10 for brothers and 4–6 for fathers or sons of patients. These risks are high in comparison to other solid cancers and suggest that the risk of developing TGCT may be, at least in part, inherited rather than acquired. Methods: Pedigrees with >1 male family member with TGCT were identified from a tumor database and systematically collected from 1992. Patients donated samples and medical details with full informed consent and under ethical review board approval. Pedigree and medical data were obtained by interview, mail and telephone contact. Results: This series examines 78 pedigrees, containing 160 cases and 170 TGCTs. In the period 1994–2003 6% of all cases had a family history of TGCT. It includes 35 sib-pairs, 12 father-son pairs, 11 uncle-nephew pairs, 10 cousin pairs and 4 pedigrees with ≥ 3 cases of TGCT. The dataset contains 66 seminomas, 56 non-seminomas, 17 mixed histology, 1 CIS and 30 tumors of unconfirmed histology. The median age at diagnosis was 33 (range 17 to 87). The median difference in age at diagnosis between the cases in each pedigree was 6 years (0–58). Histology was concordant between family members in 22 of the 53 (41.5%) 2-case pedigrees. 11 pedigrees contained a case with bilateral TGCTs (6.9% of all cases, compared to 1.1% in the sporadic patient population, p<0.001) with 50% histological concordance. The median age at diagnosis of bilateral tumors was 32 (21–42) for the first tumor and 35 (26–49) for second tumors. 24 TGCT cases (15%, compared to an expected rate of 10%, p=0.045) reported a history of UDT. 9/162 (5.5%) of TGCT cases also developed non-TGCT cancers, including penile, bladder, colorectal, hepatic and pancreatic tumors. Conclusions: When systematic collection is undertaken the incidence of familial TGCT may be higher than previously reported. Familial cases have a higher incidence of UDT and bilateral disease. The majority of this set has been used in an international genome-wide linkage analysis to identify TGCT susceptibility genes. No significant financial relationships to disclose.

Author(s):  
Katherine A. McGlynn ◽  
Ewa Rajpert-De Meyts ◽  
Andreas Stang

Testicular cancer is a rare cancer in the general population, but is the most common neoplasm among young men in many countries. It has one of the highest heritabilities of all cancer types. The vast majority of testicular cancers are germ cell tumors; thus the terms “testicular cancer” and “testicular germ cell tumors” (TGCTs) are often used interchangeably. Globally, the incidence of testicular cancer is highest among men of European ancestry and lowest among men of African and Asian ancestries. Incidence rates have been increasing in many countries since at least the mid-twentieth century. Mortality rates, however, have sharply declined in developed countries. While the reason for the decline in mortality rates is well known, reasons for the increase in incidence remain poorly understood. Accumulating evidence supports the hypothesis that most TGCTs are linked to disturbed development of the testes, beginning in utero, but fostered by postnatal events.


2009 ◽  
Vol 21 (2) ◽  
pp. 181-189 ◽  
Author(s):  
Jenny N. Poynter ◽  
Amy H. Radzom ◽  
Logan G. Spector ◽  
Susan Puumala ◽  
Leslie L. Robison ◽  
...  

2005 ◽  
Vol 23 (24) ◽  
pp. 5757-5761 ◽  
Author(s):  
Katherine A. McGlynn ◽  
Susan S. Devesa ◽  
Barry I. Graubard ◽  
Philip E. Castle

Purpose There has been marked disparity in the incidence of testicular germ cell tumors (TGCT) among white and black men for a number of decades in the United States. Since at least the beginning of the Surveillance, Epidemiology, and End Results (SEER) Program in 1973, incidence rates among white men have been five times higher than rates among black men. In addition, rates among white men have been increasing, whereas rates among black men have remained stable. However, a recent examination of ethnic-specific rates suggested that the incidence among black men may have begun to change in the 1990s. Patients and Methods TGCT incidence data from nine registries of the SEER Program were analyzed for the years 1973 to 2001. Trends were examined separately for seminoma and nonseminoma. Results Analyses found that the incidence of TGCT began to increase among black men between the 1988 to 1992 and 1993 to 1997 periods. Before that time, incidence among black men had decreased by 14.8%. Between 1988 to 1992 and 1998 to 2001, however, the incidence increased by 100%, with the incidence of seminoma increasing twice as much (124.4%) as the incidence of nonseminoma (64.3%). Over the 29-year time period, there was no evidence of a change in the proportion of tumors diagnosed at earlier stages among black men. In contrast, the proportion of tumors diagnosed at localized stages significantly increased among white men. Conclusion The incidence of TGCT among black men has increased since 1988 to 1992. Although the reasons for this increase are unclear, screening and earlier diagnosis of TGCT do not seem to be factors.


2012 ◽  
Vol 30 (5_suppl) ◽  
pp. 331-331
Author(s):  
Silvia P. Neciosup ◽  
Jose Quesada ◽  
David Callacondo ◽  
Ivan Aguilar

331 Background: Testicular microlithiasis (TM) is a entity characterized by multiple areas of increased echogenicity on scrotal ultrasonography (U.S.). Studies have reported association between TM and testicular germ cell tumors (TGCT). However, a study assessing the association of TM and extragonadal germ cell tumors (EGCT) has not been performed. Methods: Scrotal U.S. were reviewed in 441 men randomly selected from our computerized database during the period 1998 and 2010 at our tertiary-care cancer hospital. The association of U.S. findings with medical records and a history of germ cell tumors (GCT) were evaluated. The type of tumor was confirmed at histology after surgery or biopsy. Exclusion criteria included age <15 years and history of orchidectomy. Results: The median age was 32 years (range 15 – 88). TM was present in 95 patients (22%) and GCT were found in 130 patients (29%). 105 of these had TGCT (seminoma, n=56 and no seminoma, n=49) and 25 had EGCT (mediastinal, n=16, retroperitoneal, n=6 and CNS, n=3). Concurrent diagnosis of a TGCT was more prevalent in TM patients than in patients without TM (36/95 [38%] versus 69/346[20%] OR 2.45 95% CI 1.49–4.0; p<0.0001) while a diagnosis of an EGCT was present in 13 patients with TM and 12 patient without TM (13/95 [14%] versus 12/346 [3%] OR 4.41 95% CI 1.94–10.03; p<0.0001). No statistical differences were found for histology type. Conclusions: The prevalence in Latin American of TM is higher than previous reports and strongly associated with TCGT and EGCT. The clinical impact of the relationship between EGCT and TM is yet unknown and further studies are needed to clarify its role in the management. We suggest that young high-risk referral patients with TM should undergo scrotal U.S. annually; when a testicular tumor is not evident by U.S., investigations to rule out an EGCT, as thoracic or abdominal CT scans, should be considered individually in each case.


2001 ◽  
Vol 40 (4) ◽  
pp. 536-540 ◽  
Author(s):  
Finn Edler von Eyben ◽  
Ebbe Lindegaard Madsen ◽  
Ole Blaabjerg ◽  
Per Hyltoft Petersen ◽  
Hans von der Maase ◽  
...  

2018 ◽  
Vol 25 (5) ◽  
pp. 575-583 ◽  
Author(s):  
Paolo Chieffi

Background: Testicular germ cell tumor (TGCT) is the most common solid malignancy occurring in young men between 20 and 34 years of age, and its incidence has increased significantly over the last decades. TGCTs can be subdivided into seminoma and nonseminoma germ cell tumors (NSGCTs), which includes yolk sac tumor, choriocarcinoma, embryonal cell carcinoma, and teratoma. Seminomas and NSGCTs present significant differences in therapy, prognosis, and both show characteristics of the Primordial Germ Cells (PGCs). Methods: I undertook a search of bibliographic data from peer-reviewed research literature. Results: Seventy papers were included in the mini-review showing that a large number of new biomarkers have given further advantages to discriminate the different histotypes and could represent useful novel molecular targets for anticancer strategies. Conclusion: A deeper understanding of the pathogenesis of TGCTs is likely to significantly improve not only our knowledge on stem cells and oncogenesis but also the disease management with more selective tumor treatment.


2018 ◽  
Vol 18 (10) ◽  
pp. 967-978 ◽  
Author(s):  
Katarina Kalavska ◽  
Vincenza Conteduca ◽  
Ugo De Giorgi ◽  
Michal Mego

Testicular germ cell tumors (TGCTs) represent the most common malignancy in men aged 15-35. Due to these tumors’ biological and clinical characteristics, they can serve as an appropriate system for studying molecular mechanisms associated with cisplatin-based treatment resistance. This review describes treatment resistance from clinical and molecular viewpoints. Cisplatin resistance is determined by various biological mechanisms, including the modulation of the DNA repair capacity of cancer cells, alterations to apoptotic cell death pathways, deregulation of gene expression pathways, epigenetic alterations and insufficient DNA binding. Moreover, this review describes TGCTs as a model system that enables the study of the cellular features of cancer stem cells in metastatic process and describes experimental models that can be used to study treatment resistance in TGCTs. All of the abovementioned aspects may help to elucidate the molecular mechanisms underlying cisplatin resistance and may help to identify promising new therapeutic targets.


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