Concomitant germ cell tumors in monozygotic twins

Simultaneously occurring embryonal cell tumors in a 38-year-old set of monozygotic twin brothers are reported. This is the eighth documented case of testicular cancer in twins and it is unique since it is the first report to describe bilateral testicular tumors in 1 of the twin brothers. The role of genetics in the development of certain cancers warrants further study. This documentation of testicular tumors in serologically proved identical twins is used as a basis for discussion of the role of heredity as a possible significant factor in germ cell tumor pathogenesis.     

Testicular tumors in 2 families

Testicular cancers in closely related family members are rare. We herein report the second incidence of pure seminoma occurring in a father and son. The increased risk of malignant tumors developing in the undescended testis is well established. We also describe the second reported incidence of testicular cancers occurring in 2 non-twin brothers, in which 1 of the cancers developed in an undescended testis.     

Familial patterns of testicular cancer

To date only 6 cases of testicular cancer have occurred in father-and-son pairs, 7 cases in monozygotic twins, and 11 in nontwin siblings. Of particular interest in reviewing these and other reports of cancer in family members are the age of onset of the cancer and the concordance of cell types among the variously related family members affected. We report a case of familial testicular cancer occurring in a patient, summarize known or suggested epidemiologic factors, and present a literature review of familial occurrences of testicular cancer.     

Synchronous testicular tumors in identical twins

Testicular tumors are found in approximately 2 per 100,000 population. An extremely rare occurrence of synchronous testicular tumor in identical twins is presented. A complete review of the world literature with regard to testes tumors in brothers and twins is also given.     

Testicular Cancer in Father and Son

The occurrence of testicular tumors in closely related family members is rare. We report a case of testicular cancers in a father and son. The father had pure seminoma, and his son developed a mixed nonseminomatous germ cell tumor. The peripheral blood lymphocytes in both patients were tested for 52 HLA specificities, and the patients were found to have six in common. The son was homozygous for HLA A24. The association between certain HLA antigens, other genetic factors, and testicular cancer requires further study to improve the care and counseling of patients and their families.     

Testicular germ cell tumors in HLA-genotype non-twin brothers

The diagnosis of metastatic testicular carcinoma in a thirty-three-year-old man and his nineteen-year-old brother is reported. Histologically, the tumor of the older brother consisted predominantly of embryonal carcinoma with minor components of seminoma and adult teratoma; the tumor of the younger brother consisted entirely of embryonal carcinoma. Since previous reports suggest the possibility that the HLA genotype may be a factor in the etiology of testicular cancer, we typed the parents and four children of this family. The two affected brothers shared a paternal HLA-A3, Cw-,B7,DR2 haplotype that had not been transmitted to the two other living siblings. Analysis of the distribution of HLA haplotypes of the affected non-twin brothers of this family and those of three other non-twin pairs of brothers that have been reported showed that the affected pairs in each family shared one HLA haplotype. The differences between the expected and the observed distribution of HLA haplotypes in the four sibling pairs is not statistically significant, perhaps because of the small number of patients typed. Two of the four pairs shared a common haplotype. Additional family studies are required to establish a genetic origin of testicular tumors and to determine whether or not a "testicular carcinoma disease" gene is linked to the HLA complex. A large number of multicase families will be required for linkage analysis.     

Familial occurrence of testicular neoplasms (in cousins)

Testicular malignancies in closely related family members rarely occur. Only 18 cases have been reported in the literature. Our cases concern two families with testicular tumors occurring in cousins. This is the first such incidence reported. The need for a thorough checkup of other family members is reiterated.     

Germinal testicular tumors in childhood. Report of observations and literature review

1,124 case observations, published from 1955 to 1981, and 45 of our own cases of childhood testicular tumor are evaluated. The age distribution, histology (WHO classification), stage and prognosis are compared to 1,062 adult cases. Diagnostic procedures are itemized. Priorities in the therapeutic approach and the effectiveness of various methods, depending on stage and histology, and toxic side effects and other complications are documented. In children, 29% of childhood testicular tumors are non-germinal, as compared to 8% in adults. 49% are yolk sac tumors. The age distribution differs depending on histology. Metastases occur less frequently (9%) than in adults (61%). Dissemination is predominantly hematogenic. Prognosis is best in teratoma which is cured by orchiectomy. Yolk sac tumor limited to the testicle, in infants less than 2 years old, is sufficiently treated with orchiectomy alone. Older children require adjuvant chemotherapy. Overall, chemotherapy was indicated in 15% of the evaluated cases of childhood testicular malignoma.     

Malignant testicular tumors in identical twins

Two cases of testicular malignancy in a pair of identical twins are reported. The literature is also reviewed. The tumors appeared within 7 years of each other. The histology was different in both cases.     

Heredity of hypospadias and the significance of low birth weight

PURPOSE: We analyzed a large group of patients with hypospadias regarding familial aggregation, phenotype, twin rate and ethnic origin and assessed the correlation of low birth weight with hypospadias. MATERIALS AND METHODS: We mailed questionnaires to 2,503 boys operated on for hypospadias in Sweden asking for additional cases of hypospadias in the family, the number of brothers in the nuclear family, and birth weight of the boys with hypospadias and their brothers. RESULTS: Of the boys 7% reported 1 or more additional family members with hypospadias. The birth weight of the boys with hypospadias was significantly lower (p = 5 x 10-13) than the birth weight of their unaffected brothers. Phenotyping of 676 individuals revealed glandular hypospadias in 53%, penile forms in 39%, penoscrotal or perineal variants in 6% and cleaved prepuce as the only manifestation in 2%. There were 50% more twins than expected compared to the general population and established zygosity in 83% (67% monozygotic, 33% dizygotic). Non-Swedish ethnicity was noted in 22% of the subjects, a third of whom were from Middle Eastern countries. CONCLUSIONS: We present data on heredity, birth weight, phenotype and ethnic origin in a large group of patients with hypospadias. The finding of additional members with hypospadias in 7% of the families supports the concept that genetic factors are involved in the pathogenesis. The strong association with low birth weight may be explained by genetic and environmental factors.     

THE PREVALENCE OF TESTICULAR MICROLITHIASIS IN AN ASYMPTOMATIC POPULATION OF MEN 18 TO 35 YEARS OLD

PURPOSE: Testicular microlithiasis is an imaging entity of the testicle thought to be a marker of testicular cancer. To our knowledge the prevalence of testicular microlithiasis in an asymptomatic population at risk for testicular cancer is unknown. We report an ultrasound screening study done to establish the prevalence of testicular microlithiasis in an asymptomatic population. MATERIALS AND METHODS: Healthy men 18 to 35 years old from the annual Army Reserve Officer Training Corps training camp volunteered for study. A screening genitourinary history was obtained, and physical examination and screening scrotal ultrasound were performed. We defined testicular microlithiasis as more than 5 high intensity signals on ultrasound with each signal larger than 2 mm. We categorized testicular microlithiasis into microcalcifications that were scant-5 to 25 per side, moderate-greater than 25 per side but no areas of near confluence and too numerous to count. In all subjects with testicular microlithiasis tumor markers were also measured. RESULTS: Of 1,504 evaluated men with a mean age of 22.4 years, 84 (5.6%) had testicular microlithiasis, including 45 of 1,053 white (4%), 21 of 149 black (14.1%), 6 of 71 Hispanic (8.5%), 3 of 54 Asian or Pacific Island (5.6%) men and 9 of 174 (5.2%) who claimed no race affiliation. Tumor markers were normal in all subjects with testicular microlithiasis. CONCLUSIONS: Testicular microlithiasis occurs in more than 5% of healthy young men. In contrast, testicular cancer develops in 3/100,000 to 5/100,000 men or 1,000-fold less often. The relative prevalence of testicular microlithiasis with respect to testicular cancer, increased prevalence in minorities, bilateral distribution, and inverse geographic distribution of men with testicular microlithiasis and testicular cancer represent evidence against an association of the 2 conditions. This study indicates that testicular microlithiasis is a common finding in asymptomatic men that may not be related to testicular cancer.     

Incidence of bilateral testicular germ cell cancer in Denmark, 1960–84: preliminary findings

The incidence of a second primary testicular germ cell cancer in the contralateral testicle among 2338 men with a first primary testicular germ cell cancer diagnosed in the years 1960-79 in Denmark was established in this preliminary report. The material represents 83% of the total cohort followed until 31 December 1984. The relative risk for a patient with testicular cancer to get yet another testicular cancer was studied, taking into account the histology of the first primary testicular germ cell cancer. Based on fifty-eight nonsimultaneous contralateral testicular cancer cases and 19,995 'person-years at risk', the overall relative risk of invasive germ cell cancer in the contralateral testicle following a first germ cell testicular cancer was found to be 23.3 (95% confidence interval: 18-30). Among men with nonseminoma the risk was higher (relative risk = 27.5) than among men with seminomas (relative risk = 20.1). Overall, sixty-two (2.7%) patients developed a second cancer. In four of these patients bilateral tumours occurred simultaneously.     

Bilateral testicular germ cell tumours: a systematic review

What's known on the subject? and What does the study add? Bilateral testicular germ cell tumours (BTGCTs) are rare neoplasms. Most previously published studies consist of case reports or small retrospective case series. Little is known about their epidemiological and clinicopathological characteristics. BTGCT corresponded to 1.82% of testicular tumours. Metachronous disease was about twice as frequent as synchronous disease. The primary tumour histology, chemotherapy use and the interval between metachronous tumours influenced the histology of the second tumour. Overall, synchronous tumours were associated with more advanced disease and presented less favourable survival rates than metachronous tumours. Testicular cancer is the most common tumour in young men. It is known that a second primary contralateral testis tumour may occur in up to 5% of men with a proior tumour. About 35% of these men present with synchronous tumours, and 65% present with metachronous tumours. However there is little data about bilateral testicular germ cell tumours (BTGCT) in the literature and the most published articles are case reports on a small series of men, which makes it difficult to draw conclusions about therapeutic strategies for the treatment of BTGCTs. In fact, current guidelines for the treatment of testicular cancer contain little information related to bilateral disease. Therefore, the aim of our study is to provide a broad overview of BTGCT and to update data focusing on incidence, pathological features, and clinical outcomes of men with BTGCTs. Thus, an extensive review containing 94 studies and more than 50,000 patients was conducted.     

Testicular Seminoma in Father and Son. Case Report of Testicular Malignancies Occurring in Closely Related Family Members

Father and son had testicular seminomas. Father had right and son had bilateral malignancies: this is the 5. report of testicular malignancies occurring in fathers and sons. A review is made also of the literature on testicular malignancies occurring in closely related family members (26 reports only).     

Germ cell tumors of the testicle or 'orchidomata'

An unusual case of a double testicular tumor, with different histology and the same marker chromosome, led to a search of the literature for cases of testicular tumors that were double, bilateral, or familial. The literature on abnormal chromosomes in tumors of the testis is also reviewed. After a discussion of the facts, it is suggested that most of the histological variants of germ cell tumors of the testicle are so closely related that they could be grouped together under the title of 'orchidomata'.     

Testicular germ cell tumors in monozygotic twins: case report and review of the literature

We report the eleventh instance of testicular germ cell tumors in monozygotic twins. The tumors were concomitant but of different histology. The comparable lymphography and computerized tomography scan findings, tumor response to chemotherapy and side effects are discussed. We conclude that there is no definite evidence for an increased risk in relatives of patients with this disease.     

Bilateral testicular microlithiasis predicts the presence of the precursor of testicular germ cell tumors in subfertile men

PURPOSE: A high prevalence of testicular microlithiasis has been described in adolescent and adult clinical cases of invasive testicular germ cell tumor (TGCT), that is seminomas and nonseminomas. However, to our knowledge it remains to be established whether testicular microlithiasis also indicates the presence of the pre-invasive lesion of this cancer, known as carcinoma in situ (CIS). We determined the predictive value of unilateral and bilateral testicular microlithiasis for CIS in subfertile men, a known risk population for TGCTs (approximately 1%). MATERIALS AND METHODS: In a retrospective cross-sectional study the association between testicular microlithiasis and CIS was studied in a group of 263 men referred for subfertility. Testicular microlithiasis and CIS were diagnosed in all men by scrotal ultrasound and in testicular histology specimens as part of the routine evaluation of all patients. RESULTS: Of the 263 subfertile men 53 (20%) had testicular microlithiasis. No CIS or TGCT was identified in the 23 men with unilateral testicular microlithiasis. In contrast, 6 of the 30 men (20%) with bilateral testicular microlithiasis were diagnosed with CIS. Therefore, the prevalence of CIS in subfertile men with bilateral testicular microlithiasis is significantly higher than in patients without testicular microlithiasis (1 of 210, 0.5%) and with unilateral testicular microlithiasis (0 of 23, 0%) (p <0.0001). CONCLUSIONS: Bilateral testicular microlithiasis is indicative for CIS in subfertile men. Since these men are at particular risk for invasive TGCT, an assessment of testicular microlithiasis is a valuable tool for the early diagnosis of this disease.     

The predominance of benign histology in small testicular masses

ObjectivesTo evaluate the concordance between testicular tumor size and benign histology in order to identify a cut-off size, below which the rate of benign lesions would be highest.Methods and materialsDuring the years 1995–2008, we performed 131 consecutive testicular operations for testicular tumors. Ten of these were testicular preserving surgery, whereas the other 121 patients had radical orchiectomy. We searched for the rate of benign lesions in the following 3 groups of tumor diameter: 10 mm or less, 11–20 mm, and greater than 20 mm. ROC analysis was used to find the optimal size cut-off below which the rate of benign lesions would be highest.ResultsBenign lesions were found in 11 patients (8%), including epidermoid cyst (n = 4), Leydig cell tumor (n = 3), fibrosis (n = 1), adenomatoid tumor (n = 2), and 1 patient with a simple cyst. Small tumor size strongly correlated with benign histology. The mean diameter of benign vs. malignant lesions was 15 mm and 41 mm, respectively (P < 0.05). The rate of benign lesions in tumors with a diameter of 10 mm or less, 11–20 mm and greater than 20 mm was 50%, 17%, and 2%, respectively. Receiver Operating characteristic (ROC) analysis with 87% sensitivity and 83% specificity revealed a cut-off value of 18.5 mm tumor diameter below which the proportion of benign lesions was 38.5% compared with 2% above it (P < 0.05).ConclusionsWhile benign lesions comprise only 8% of all testicular tumors, their proportion among small lesions is much higher. With a size cut-off of 18.5 mm, 38.5% of smaller lesions are benign. These findings support consideration of testicular exploration for small testicular lesions aiming at preservation rather than predetermined radical orchiectomy.     

Population based incidence and age distribution of spermatocytic seminoma

PURPOSE: Spermatocytic seminoma is a rare subtype of testicular germ cell tumor which has been reported to occur in elderly men. We report the first population based estimate of incidence, temporal trends and age distribution of this tumor. MATERIALS AND METHODS: All cases of primary testicular cancer identified by cancer registries in Australia between 1982 and 2002 were available for analysis. The International Classification of Diseases for Oncology code M-9063/3 was used to identify spermatocytic seminomas. Incidence trends were modeled using Poisson regression. RESULTS: There were 58 cases of spermatocytic seminoma out of 9,658 cases of primary malignant testicular neoplasms identified by the cancer registries. This tumor comprised 1.1% of all seminoma and the age standardized incidence rate was 0.4 per million (95% CI 0.3-0.6). A temporal increase in incidence was found but not one reaching statistically significance. Age at diagnosis ranged from 19 to 92 years with a mean of 53.5 (SD 16.7) and a median of 54 years. CONCLUSIONS: Spermatocytic seminoma should be considered in the differential diagnosis for testicular germ cell tumors presenting in young adults because this tumor occurs as often in men younger than 55 years as it does in older men. Although rare, the occurrence of this tumor is not as singular as the current literature suggests.     

Prevalence of testicular microlithiasis in an asymptomatic population

OBJECTIVE: Testicular microlithiasis is a rare, usually asymptomatic, finding of the testes associated with various genetic anomalies and infertility. It is also widely believed that testicular microlithiasis is strongly associated with testicular tumor. The aim of this prospective study was to determine the true prevalence of testicular microlithiasis in an asymptomatic population by means of ultrasound screening. MATERIAL AND METHODS: Healthy male volunteers (17-42 years old) were recruited from the annual Army Reserve Officer Training Corps training camp at Manisa, Turkey. A screening genitourinary history was obtained and a physical examination and screening scrotal ultrasound scan were performed. RESULTS: All men diagnosed with testicular microlithiasis underwent complete clinical evaluations, physical examinations and determination of tumor markers. Fifty-three men with testicular microlithiasis were identified from the 2179 ultrasound scans, giving a prevalence of testicular microlithiasis of 2.4% in this asymptomatic population. The age (mean+/-SD) of subjects with testicular microlithiasis was 23.9+/-4.2 years (range 20-31 years). CONCLUSION: Our results suggest that there is no significant association between TM and testicular cancer, although it is difficult to rule out such an association without further studies with a longer follow-up period.