Peutz-Jegher syndrome in childhood: need for updated recommendations?

BACKGROUND AND AIMS: We reviewed our institution's experience with Peutz-Jegher syndrome (PJS) in children to determine whether current recommendations on timing of screening and follow-up should be modified. METHODS: We reviewed the charts of all of the children with a diagnosis of PJS at our institution from 2000 to 2011 abstracting data on intussusceptions events, polyp characteristics, Sertoli cell (SC) tumors, family history, imaging, and interventions. RESULTS: Of 14 children identified, 10 were boys. Median age at first clinical evaluation was 4.5 years, and family history and/or mucocutaneous pigmentation were the 2 most common factors stimulating screening. Median age at first screening test was 5 years (range 1-16), and at first polyp identification, 5 years (range 1 to 18). There were 7 intussusception events in 5 children, with median age of 10 and range 5 to 16 for first event. Two boys had SC tumors at 8 and 11 years. Polyps were identified during initial screening in 9 of 14 patients. Polyps were found in the stomach or duodenum in 5 (36%), small bowel in 7, (50%) and colon in 3 (21%) children. Large polyps were identified in 9 children at median age of 7 years. CONCLUSIONS: Polyps causing significant clinical consequences can occur frequently in children with PJS younger than 8 years. Revised guidelines should consider initial screening at age 4 to 5 with capsule endoscopy and upper and lower endoscopy as well as evaluation for SC tumors and re-evaluation whenever symptoms suggest polyp-associated complications.

A five-year cohort study on testicular tumors from a population-based canine cancer registry in central Italy (Umbria).

Canine testicular tumors account for about 90 % of tumors affecting the male genitalia. Seminomas (SEM), Sertoli cell tumors (SCT), and interstitial cell tumors (ICT) are the most common histological diagnoses, but their incidence shows high variability among studies. Our aim is to report the results on the analysis of testicular tumors recorded by the population-based Umbria Canine Cancer Registry (CCR) for a 5-year time period and to assess the value of tumor major diameter, measured during trimming, in discriminating neoplastic from non-neoplastic lesions. The study was conducted on 388 testicular tumors (on 1969 total male tumors) diagnosed in 355 dogs from 2014 to 2018. The median incidence was 35 cases/100,000 dogs, with a proportion equal to 19,7 % of all tumors. The incidence on neutered male dogs was 352/100,000. Most tumors were ICTs (50 %), with fewer SEMs and SCTs (29 % and 17 %, respectively). Only 3 % of tumors were mixed germ cell-sex cord-stromal tumors (MGC-SCST). Ten percent of cases had multiple tumors in the same testicle, with SEM-ICT being prevalent (69.2 %). Tumors in cryptorchid testes were 5.9 % of the total, mostly SCT (60.9 %). Mean age at diagnosis was 10.7 ± 2.7, with similar values for different tumor types. Significant incidence ratios (IRR) were found in Golden retriever (IRR 7.18, CI95 % 4.72-10.92) and in English cocker spaniel (IRR 2.30, CI95 % 1.28-4.13) when compared with mixed breed dogs. A value of 0.3 cm (major diameter) of lesions at the moment of trimming was helpful in discriminating a final tumor histological diagnosis from a non-tumor lesion. Since the number of tumors included in this evaluation was limited, further studies to confirm the diagnostic value of this measure are recommended. Our results provided information on the incidence of canine testicular tumors in Umbria region that can be compared with future results and incidence from other geographical areas if provided with reliable data on the total population, can offer solid information on the incidence and proportion of different tumor types in specific territories, contributing also to the supervision of its inhabitants' health. Moreover, pathological data such as the major diameter of tumors can be obtained and contribute to diagnostic routine and standardization.

Canine testicular tumours: a study on 232 dogs.

The aim of this study was to provide an up-to-date estimate of the prevalence of canine testicular tumours, an earlier study (reported in 1962) having found a prevalence of 16%. Histological examination of both testes collected at necropsy from 232 dogs revealed that 62 (27%) had one or more testicular tumours, the total number of tumours identified being 110. Of these, 55 were interstitial cell tumours, 46 were seminomas, and nine were Sertoli cell tumours. The results suggest that, as reported in man, testicular tumours in dogs have increased during the past 40 years. Further studies should investigate the possible causative role of environmental pollutants.

A cohort study of canine testicular neoplasia.

A prospective epidemiologic study of canine testicular neoplasia was undertaken in the Philadelphia area in 1971, with the cooperation of private veterinary practitioners. By the end of 1975, 938 dogs had been monitored for an average of 2 years. The cohort consisted of 609 cryptorchid and 329 age- and breed-matched controls. The incidence of testicular neoplasia in the cryptorchid subcohort was 12.7/1,000 dog-years at risk. Testicular neoplasms did not develop in controls. A large proportion of the dogs were below the average age at onset for this neoplasm. Among dogs over 6 years of age, the incidence was 68.1/1,000 dog-years at risk. The incidence of Sertoli cell tumors and seminoma was approximately twice as high in dogs with unilaterally retained inguinal testicles as in abdominal cryptorchids. Sertoli cell tumors developed in 10 dogs and seminoma developed in 6. One half of the testicular neoplasms that developed did so within the first year of observation. This study demonstrated the feasibility of conducting prospective epidemiologic studies of canine diseases with the assistance of practicing veterinarians.

Intrascrotal tumors in the older male.

Although the greatest incidence of testicular neoplasms is in the age group 20 to 35.9% of all intrascrotal tumors occur in males over 60. They may be classified into four major groups based on the tissue origin of the tumor. The most common group comprising 50% are lymphoreticular neoplasms or lymphomas. They occur in both blacks and whites, result in a diffuse enlargement of the testis and commonly involve the epididymis and cord. Prognosis is poor and survival is usually less than two years. Germ cell tumors comprise 25% and the tumors are usually large. Most of them are the classical seminoma which has a good prognosis following orchiectomy and retroperitoneal radiation. A few are the spermatocytic seminoma which is usually benign. Three percent are teratocarcinoma with embryonal elements which is highly malignant and survival less than two years. Ten percent are tumors of gonadal stromal origin. There are two types, the Leydig cell and the more rare Sertoli cell. About one-fourth of these patients develop gynecomastia and some a decrease in libido. The prognosis is good as less than 10% of these tumors are malignant. Neoplasms of supportive and paratesticular structures comprise a heterogeneous group of benign and malignant lesions and comprise about 15% of intrascrotal tumors. Most of them have the same features as tumors of similar tissues encountered throughout the body. They are the mesothelioma or adenomatoid tumor, fibroma, rhabdomyosarcoma, leiomyoma, lipoma, liposarcoma, mucinous cystadenocarcinoma, and leiomyosarcoma. As in all intrascrotal tumors, the diagnosis, treatment, and prognosis are based on the microscopic findings after removal of the tumor.

Breed differences in the proportional morbidity of testicular tumours and distribution of histopathologic types in a population-based canine cancer registry.

Histologically verified tumours submitted to the Norwegian Canine Cancer Register from 1990 to 1998 were studied (n=14,401). The proportion of testicular tumours (n=345) was 2.4%, and the breakdown of histological tumour diagnoses is presented. The frequency of the most common histopathological types was 33% interstitial (Leydig), 26.4% Sertoli and 33.9% seminomas/germ cell tumours. The average age at diagnosis was 10 years, but was significantly lower for Sertoli cell tumours (8.6 years) than for the other tumour types. Following a histopathological re-evaluation, 22.5% of the original tumor diagnoses were modified. Proportional morbidity ratios were calculated and individuals from the breeds Shetland sheepdog and Collie were five times more likely to have testicular tumours than the overall average for the registry. Breed differences in the distribution of histopathologic types were observed. Shetland sheepdog and Collie were most commonly diagnosed with Sertoli cell tumours, while all tumours from Norwegian elkhound in this material were seminomas.

Testicular tumors in children and adolescents.

OBJECTIVE: To analyze the spectrum of testicular tumors in children in an unselected population-based series, as well as the results of testis-preserving surgery. PATIENTS AND METHODS: Our hospital database was analyzed for operations for testicular tumors from 1981 to 2006. The clinical data and findings during follow up (4.7 years) were recorded. RESULTS: Thirty-four patients were operated on because of testicular tumors. In 23 (68%) the tumor was benign: benign teratoma (16), Leydig-cell tumor (2), epidermoid cyst (2), Sertoli-cell tumor (1), cystic dysplasia (1), intratesticular focal fibrosis (1). Eleven patients (32%) had a malignant tumor: yolk-sac tumor (6), embryonal carcinoma (5). Twenty out of the 26 (77%) prepubertal boys had a benign tumor in contrast to only three of the eight (38%) adolescent males (P=0.079). Testis-preserving surgery was performed in 10 patients. In eight, the tumor was curatively excised and remaining testis preserved. Two patients with benign teratoma had a recurrence due to incomplete primary resection. In one patient who underwent orchiectomy for benign teratoma, two metachronous teratomas were detected in the contralateral testis 6 years after primary surgery. CONCLUSIONS: In children, most testicular tumors are benign, especially before puberty. If testis-preserving surgery is contemplated, complete excision of the tumor should be ascertained. The possibility of metachronous bilateral tumors should be considered in the follow up of testicular teratomas.

Gonadal stromal tumors: a report of the Prepubertal Testicular Tumor Registry.

A total of 15 gonadal stromal tumors in prepubertal boys has been reported to the Prepubertal Testicular Tumor Registry of the Section on Urology of the American Academy of Pediatrics. Leydig cell tumors invariably are benign and patients usually present with precocious puberty when they are 5 to 9 years old. Other gonadal stromal tumors either present in infancy as a scrotal mass and exhibit a benign behavior or occur later in childhood and may be malignant.

Canine testicular tumors: epidemiologic features of 410 dogs.

Histologically confirmed testicular tumors were diagnosed in 410 dogs from 12 North American veterinary university hospitals and clinics. Three tumor-cell types, Sertoli cell tumor, interstitial cell tumor and seminoma, were about equally represented. Several breeds were identified with high risk for different testicular tumor-cell types. Cytogenetic and immunogenetic studies of these dog families could offer leads applicable to familial testicular cancer in man. The multiplicity of breeds within the series suggests that, as in man, other factors, in addition to hereditary, play a role in etiology. Cryptorchid dogs appear to have a 13.6 times higher risk of testicular tumor than normal dogs. Additionally, male dogs with an inguinal hernia have an increased risk (4.7) of testis tumors. There were no detectable excesses of other urogenital anomalies or urogenital tumors among the series. The Shetland Sheepdog is suggested as an appropriate model for research into the mechanisms responsible for testicular maldescent and tumorigenesis.

Testicular cancer in blacks. A multicenter experience.

BACKGROUND: The rarity of testis tumor in black patients has made the study of a large series difficult. Much of the epidemiologic and clinical information regarding this neoplasm in this population is in dispute, including data on incidence, prognosis, histologic distribution, age and stage at presentation, and side distribution. METHODS: A retrospective review of 66 blacks with testicular tumors from seven military medical centers was performed. RESULTS: Similar results were found for blacks with testis tumor to those of the general testis cancer population regarding prognosis, side distribution, and age of onset for nonseminoma and interstitial tumors. There is a slight increase in the expected number of interstitial tumors in blacks, but the distribution between seminoma and nonseminoma is similar to the general population. The mean age of presentation for seminoma in blacks was younger than that of the general testis cancer population. For testis tumor treated at the same institution, there was an increased delay of diagnosis in blacks compared with whites. The number of new cases of testicular cancer between 1979 and 1991 at one major center was increased for whites but not for blacks. The availability of cisplatin-based combination chemotherapy has resulted in an improved prognosis for blacks, as has already been demonstrated for white populations. CONCLUSIONS: Testis tumor in blacks behaves similarly to testis tumor in the general population except that in blacks there are more interstitial tumors and the mean age of presentation for seminoma is younger. Further, there is an increased delay in diagnosis for blacks compared with whites, but the incidence of this tumor in this population does not appear to be increasing. Cisplatin-based chemotherapy has significantly improved survival in this population.

Sertoli cell tumor in an HIV+ man.

A 31 year old human immunodeficiency virus positive (HIV+) patient presented with an asymptomatic left testicular mass. Radical orchiectomy was performed, and pathology revealed a Sertoli cell tumor. This unique case prompted a review of the literature on testicular tumors in HIV patients, with special emphasis on incidence, tumor type and therapeutic alternatives.

Malignant large cell calcifying Sertoli cell tumor of the testis (LCCSCTT). Report of a case in an elderly man and review of the literature.

Malignant Large Cell Calcifying Sertoli Cell Tumor of the Testis (LCCSCTT) is a rare histological variant of sex cordstromal tumors. It usually arises in young males, sometimes is associated with endocrine abnormalities and has a benign course. It is exceptional in elderly men and the outcome is rarely fatal. We report a case of LCCSCTT in a 73 year-old man with fatal outcome. The tumor involved the right testis and several areas of the tunica albuginea were grossly invaded. Serum levels of HCG, LH and testosterone were normal. Lymphoangiography performed after orchiectomy showed an involvement of the iliac and preaortic lymph nodes. X-ray of the chest showed no lung metastases. A thorough study of the light microscopic, immunohistochemical and ultrastructural appearances was performed. Immunohistochemistry revealed positivity to vimentin, S-100 and NSE. Our observations confirm the previous findings concerning malignant LCCSCTT and point out the histogenesis of the tumor from Sertoli cells.

Testicular neoplasms in Kenyan Africans.

Over a 9-year period 40 testicular and paratesticular neoplasms were seen at the Kenyatta National Hospital, Nairobi, Kenya. Their incidence rate was 0.08 per annum per 100,000 Kenyan males. This low incidence was largely accounted for by a decrease in tumors of germ cell origin. The proportional distribution of the testicular neoplasms, however, was not significantly different from findings in the United States. An inheritable factor apparently controls the decreased susceptability to testicular neoplasms.