Tumores testiculares y paratesticulares en la edad pediátrica / Testicular and paratesticular tumors in children

OBJETIVOS: Los tumores testiculares (TT) y paratesticulares (TP) constituyen el 1-2% de los tumores sólidos infantiles. Estudios recientes recomiendan un manejo conservador, ante la mayor frecuencia de tumores benignos. Con estas premisas, revisamos nuestra experiencia, así como la actitud terapéutica adoptada. MÉTODOS: Todos los TT y TP tratados desde 1998 hasta 2016 se analizaron de manera retrospectiva. Entre los datos recogidos se encuentran la edad, clínica, lateralidad de la tumoración, pruebas de imagen, tratamiento realizado, tipo histológico y evolución. RESULTADOS: Se revisaron un total de 19 casos de TT y TP en 17 pacientes. El 79% de los casos debutaron como una masa escrotal asintomática con marcadores tumorales negativos. El estudio anatomopatológico demostró una proporción similar de TT estromales y de células germinales. En cuanto a los TP se evidenció una proporción similar entre los tumores de características benignas y malignas. Se practicó cirugía conservadora en el 58% de los TT y tumorectomía en el 57% de los TP. CONCLUSIONES: La alta incidencia de benignidad de los TT y TP en la infancia, sobre todo con marcadores tumorales normales, hace que deba considerarse la cirugía conservadora como primera opción terapéutica

OBJECTIVES: Testicular (TT) and paratesticular (PT) tumors account for 1-2% of all infant solid tumors. Due to the increased frequency of benign tumors, conservative management is recommended. Our experience and the therapeutic approach adopted considering testis-sparing surgery, was reviewed. METHODS: A retrospective observational study concerning testicular and paratesticular tumors in our hospital between 1998 and 2016, was performed. Age, side, symptoms, imaging, treatment methods, histological findings and evolution were reviewed. RESULTS: Nineteen cases of TT and PT were reviewed in 17 patients. A painless scrotal mass was found in most cases as the initial presentation (79%). Tumor markers were normal in all cases. Similar distribution between germ cell and stromal testicular tumors was found. Nevertheless, benign and malignant PT proportion was similar. Testis preserving surgery was performed in 58% of TT and in 57% of PT. CONCLUSIONS: Due to the high incidence of the benign histological findings, testicular sparing surgery should be considered as a first therapeutic option, especially in those cases with normal tumor markers

Sertoli cell tumour in a neonate calf: an unusual congenital tumour. A case report.

Congenital testicular tumours are seldom reported in bovine species. This case report describes the clinical, sonographical, haematological, pathomorphological and immunohistological features of a Sertoli cell tumour in a neonatal German Holstein calf. Microscopically, the enlarged testicle was composed of neoplastic cells, which were packed in well-formed tubules. The mostly polygonal shaped cells had round to elongated nuclei and a scanty eosinophilic cytoplasm. Some cells were arranged perpendicularly to the light PAS-positive basement membrane. These cells were packed in broad sheets separated by dense fibrous stroma. Mitotic figures were present. The features described above are indicative of a Sertoli cell tumour. The contralateral testicle showed a well formed rete testis, fusiform cells and a dense central capillary convolute and haemorrhagic foci. The features are indicative of an extensive fibrosis and older haemorrhage. The neoplasia was immunopositive for vimentin, α-oestrogen receptor, α-inhibin and S-100 protein, but immunonegative for cytokeratine, CD30, progesterone receptor, α-fetoprotein, SALL4, OCT4 and glypican-3. The mycotoxicological investigations revealed the presence of residues of zearalenone, deoxynivalenol, ochratoxin, HT2 toxin and their metabolites in feeds and urine of heavily pregnant cows of the herd. Furthermore, information is provided about oestrogen and testosterone levels of the affected and healthy neonatal calves. A possible influence of mycotoxins on the cancerogenesis is discussed.

Testicular adrenal rest tumors in boys with congenital adrenal hyperplasia: 3D US and elastography--do we get more information for diagnosis and monitoring?

BACKGROUND: Testicular adrenal rest tumors (TART) are the nodular testicular lesions deriving from the adrenal remnant tissue reported in boys and men with congenital adrenal hyperplasia. Until now, the diagnostics of TART have been based on a combination of clinical features, imaging methods (primarily two dimensional ultrasound--2D US), response of the foci to glycocorticosteroid (GCS) therapy and exclusion of the neoplastic process. Application of 2D US supplies however a limited range of information about the volume, demarcation, structure and vascularization of the lesions. OBJECTIVE: To define whether the use of 3D US, power Doppler and elastography changes the algorithm of the diagnostics and monitoring or treatment of TART. MATERIAL AND METHODS: In this study, modern ultrasound techniques such as 3D US and elastography were introduced in two boys with TART. RESULTS: The 3D power Doppler option gives the opportunity for accurate assessment of the volume of testes and adrenal tissue foci and their vascularization. Sonographic elastography allows the assessment of stiffness of adrenal tissue areas compared to normal testis parenchyma. CONCLUSION: The use of these modern techniques enables more adequate and advanced diagnostics, and more precise monitoring of the effects of treatment in patients with TART.

Poliorquia: presentación de un caso y revisión de la literatura / Supernumerary testicle: case report and bibliographic review

OBJETIVO: Presentar un caso de teste supernumerario, rara anomalía de la que existen descritos y fundamentados aproximadamente 120 casos. MÉTODOS: Presentamos el caso de un varón de 26 años que consultó por presentar tumoración paratesticular izquierda. La exploración física y ecográfica evidenciaron una lesión nodular de aproximadamente 2 cm sobre epidídimo izquierdo que se confirmaría posteriormente durante la exploración quirúrgica y biopsia. Dada la posibilidad de malignización se decidió extirpar el teste supernumerario. RESULTADOS: Para evaluar un teste supernumerario disponemos de varias clasificaciones que evalúan la funcionalidad y el desarrollo embriológico del mismo, así como la topografía, la anatomía y su potencial reproductivo. CONCLUSIONES: Ante una masa intraescrotal debemos tener en cuenta a la hora de realizar el diagnóstico diferencial la presencia de un teste supernumerario, siendo fundamental la exploración quirúrgica y biopsia. Realizaremos exéresis del teste supernumerario siempre que sea origen de dolor, displasia, carcinoma in situ, o la biopsia arroje dudas(AU)

OBJECTIVE: We report a case of supernumerary testis, a rare anomaly with only around 100 cases reported in the literature. METHODS: We describe the case of a 26-year-old man who consulted for a left paratesticular tumor. Physical examination and ultrasound showed a 2-cm nodular lesion over the left epididymis. The lesion was confirmed as supernumerary testis by surgical examination and biopsy and was subsequently excised, given the malignancy potential. RESULTS: The supernumerary testis was evaluated using two standard classifications, one assessing function and embryological development, and the other assessing topography, anatomy, and reproductive potential. CONCLUSIONS: The differential diagnosis for an intrascrotal mass should include the possibility of a supernumerary testis; hence, surgical examination and biopsy are necessary. Supernumerary testes should be excised in the case of pain, dysplasia, or in situ carcinoma, or whenever the biopsy is inconclusive(AU)

Congenital intra-abdominal bilateral juvenile granulosa cell tumors of the testis associated with constitutional loss of material from chromosome 4.

Juvenile granulosa cell tumor (JGCT) is an uncommon gonadal stromal tumor that occurs rarely in the testis. We report a newborn boy with bilateral intra-abdominal JGCT presenting with abdominal distention and respiratory distress at birth. He was taken to the operating room emergently, and 2 large masses connected by gubernacula to the inguinal canals were resected. Associated abnormalities included a constitutional chromosome 4 abnormality, polymicrogyria, and renal cysts. This report describes a rare presentation of JGCT with abdominal compression and expands the literature to include bilateral testicular involvement. Additionally, it is the 1st report of JGCT associated with a chromosome 4 abnormality, highlighting a genetic region that may be important in JGCT development.

Congenital juvenile granulosa cell tumor of the testis in newborns.

BACKGROUND: Granulosa cell tumor of the testis is a rare intermediate stromal cell tumor that can be distinguished in the adult and juvenile type. The juvenile type is the most common reason for scrotal swelling in newborns under the age of six months. Less than fifty cases of this disease entity have been reported in the literature. PATIENTS AND METHODS: In the following article, two newborn patients with scrotal swelling and a histological confirmation of juvenile granulosa cell tumor of the testis will be presented. RESULTS: Case 1: A newborn patient presented with massive scrotal swelling. Sonography of the testicle exhibited a multiple septic and cystic enlargement of the testicle without distinction of the testicular parenchyma being possible. The laboratory findings demonstrated normal testosterone levels, beta-HCG and inhibin-B levels as well as an increased alpha-fetoprotein level of 35.350 ng/dl. Due to clinical and sonographic findings, an inguinal exploration and later, due to the impossibility of distinction of the testicular parenchyma, an inguinal orchiectomy of the right testicle was performed. Case 2: The clinical and sonographic examination of a newborn patient demonstrated a suspicious process of the left testicle. Sonography exhibited an enlarged testicle with cystic formations with the distinction of the testicular parenchyma not being possible. The laboratory findings demonstrated normal testosterone levels, beta-HCG and inhibin-B levels as well as an increased alpha-fetoprotein level of 9.038 ng/dl and LDH of 768 U/I. An inguinal orchiectomy of the left testicle was performed. In both cases, a histological diagnosis of juvenile granulosa cell tumor of the testis was made. CONCLUSION: These two aforementioned cases demonstrate that juvenile granulosa cell tumor of the testis is a benign disease encountered in newborns, which exhibits an excellent prognosis. Inguinal orchiectomy is the therapy of choice. After surgical removal of the involved testicle is performed no further management is required.

Juvenile granulosa cell tumor of testis: case report and review of literature.

Juvenile granulosa cell tumor (JGCT) of testis is extremely rare in childhood. It is considered a benign entity because metastasis has never been reported. Testicular-sparing surgery is the recommended treatment. We reported this case in a newborn who presented with unilateral scrotal swelling. Histopathology and immunohistochemistry confirmed JGCT. Follow-up at 6 months after surgery did not show any recurrence. Even though JGCT is very rare in childhood, it is one of the important differentials of newborn scrotal mass.

A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor.

A 20-month-old boy presented with precocious puberty due to a Leydig cell tumor, and at the age of 6 years with a primitive neuroectodermal brain-tumor (PNET). A novel splice site mutation of the TP53-gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li-Fraumeni syndrome, but the family does not strictly conform to the canonical definition.

Congenital juvenile granulosa cell tumor of the testis in a fetus showing full 69,XXY triploidy.

Testicular juvenile granulosa cell tumor (TJGCT) occurs predominantly in infancy and may be associated with sex chromosomal abnormalities. We report a fetus aborted because of cytogenetically confirmed complete XXY triploidy. External genitalia of the fetus were female, with a short and patent vagina. The tumor presented as an abdominal multicystic mass with typical histologic and immunohistological features of JGCT. It was connected with a tubular uterus-like structure. The other gonad was an inguinally localized testis that showed histologically a Sertoli cell adenoma. Malformations typical for triploidy were also present: agenesis of the corpus callosum, stenosis of the pulmonary ostium, and hypoplasia of the lungs and adrenals. To our knowledge this is the first case of TJGCT in a triploid fetus.

Intrauterine torsion of a testicular teratoma: a case report.

Neonatal testicular tumors and intrauterine testicular torsions are very rare. The presented case is the first describing intrauterine torsion of a descended testis with a teratomatous tumor. Immediately after birth, right hemiscrotal swelling was seen in a preterm male newborn. Surgical intervention showed extravaginal testicular torsion and a highly differentiated testicular teratoma with haemorrhagic infarction. The testis was removed (orchiectomy). Over a period of twelve months no signs of tumor recurrence were found. While being extremely rare, testicular tumors should be included in the differential diagnosis of neonatal scrotal swelling.

WKY/Ztm-ter: a new rat inbred strain on the WKY/Ztm genetic background with congenital teratomas.

We describe a new rat model for teratomas (WKY/Ztm-ter) which arose through a spontaneous mutation in the inbred WKY/Ztm rat strain. When the tumours of the gonads became clinically apparent, affected males were 14 to 224 days of age, whereas the females only developed tumours between days 21 and 63. Tumour incidence is not gender-dependent. However, almost all females develop bilateral tumours, while 50% of the males show unilateral tumours. Histologically, all examined tumours (n = 65) represent partially undifferentiated teratocarcinomas.

Paratesticular congenital malignant rhabdoid tumor diagnosed by fine-needle aspiration cytology. a case report.

We report the FNA features of a congenital malignant extrarenal rhabdoid tumor (MERT) located in the right paratesticular area of a newborn full-term boy (39 wk gestation), with disseminated metastases in the liver and right parietal region. The diagnosis was suggested two days after birth by fine-needle aspiration biopsy (FNAB) of the parietal mass, which demonstrated an atypical large cell proliferation with vesicular nuclei, prominent nucleoli, and abundant cytoplasm exhibiting paranuclear dense inclusions. The diagnosis was confirmed by histopathologic and immunohistochemical examination of the primary paratesticular tumor. To the best of our knowledge, this is the third MERT reported in the paratesticular region, one of the few congenital extrarenal non-central nervous system cases, and the third congenital case (renal or extrarenal) primarily diagnosed by FNAB. We emphasize the characteristic cytologic features of a congenital rhabdoid tumor, which must be known by pathologists because of the clinical and prognostic implications. Diagn. Cytopathol. 2004;30:46-50.

Pediatric testicular tumors: contemporary incidence and efficacy of testicular preserving surgery.

PURPOSE: Testicular tumors in the pediatric population are fundamentally distinct from their adult counterparts. We reviewed a contemporary single series from a large pediatric health science center. We also examined our experience with testis conserving surgery and then used it to develop a preoperative management algorithm. MATERIALS AND METHODS: A retrospective review was performed of all testicular tumors at a single institution from 1984 to 2002. Data were compiled using the American Academy of Pediatrics testis tumor registry data collection form. We further examined partial orchiectomies for indications and outcomes with respect to cancer control and testicular viability. RESULTS: A total of 51 primary testicular lesions were identified. Patient age was prenatal to 16 years with a scrotal mass the most common presentation (81%). Mature teratoma, rhabdomyosarcoma, epidermoid cyst, yolk sac and germ cell tumors accounted for 43%, 26%, 10%, 8% and 6% of cases, respectively. This distribution was markedly different from the last reported American Academy of Pediatrics data base. Organ preserving surgery was planned and achieved in 13 cases. All surgeries were successful with respect to cancer control and testicular preservation. CONCLUSIONS: We believe that the higher incidence of teratoma is more representative of this population and yolk sac tumor is a minority diagnosis. The single institution review eliminates the interinstitutional referral heterogeneity that may have skewed larger data bases. Furthermore, the concept of testicular preserving surgery becomes an attractive option since we present its safety and efficacy. The management algorithm should facilitate the preoperative decision to perform less radical surgery and help preserve testicular tissue.

Juvenile granulosal cell tumor of the testicle.

This is a case of a newborn with a rare testicular tumor-a juvenile granulosal cell tumor. This is a tumor of stromal origin, which is similar histologically to granulosal cell tumors of the ovaries. The authors present the imaging characteristics and differential diagnoses in this patient.

Clinical behavior and a contemporary management algorithm for prepubertal testis tumors: a summary of the Prepubertal Testis Tumor Registry.

PURPOSE: The Prepubertal Testis Tumor Registry was established by the Urologic Section of the American Academy of Pediatrics in 1980 to record data on a large number of prepubertal testis tumors regarding presentation, treatment and outcome to define appropriate management better. We reviewed the registry data in the context of other modern studies to elucidate the appropriate management of these rare tumors. MATERIALS AND METHODS: Relevant data in the prepubertal testis tumor registry were tabulated and analyzed. RESULTS: There were 395 prepubertal patients who had a primary testis tumor. Generally benign tumors accounted for 38% of cases. A significant proportion of tumors were benign regardless of patient age. alpha-Fetoprotein levels for patients with benign and malignant tumors overlapped in children younger than 6 months. Of the patients with yolk sac tumor 80% presented with stage 1 disease and overall survival was excellent. There were no metastases or deaths among the patients with teratoma. Of all patients with stromal tumors metastases developed in only 1. CONCLUSIONS: We recommend initial excisional biopsy for all amenable prepubertal testis tumors, except those with an alpha-fetoprotein level that is clearly increased for patient age. Patients with benign tumors may be released from oncological followup. Patients with stage I yolk sac tumor should be monitored closely, and those with recurrent or metastatic yolk sac tumor should be treated with chemotherapy. Retroperitoneal lymph node dissection is reserved for patients with recurrent retroperitoneal masses following chemotherapy. Aggressive treatment of metastatic Sertoli cell or undifferentiated stromal tumors is warranted.