INTRODUCTION: Testicular tumours in childhood have diverse characteristics for different age ranges. This study aimed to describe the pattern, presentation and outcomes of primary testicular tumours in a paediatric population. METHODS: A retrospective study was conducted from January 2010 to December 2020 on children (≤18 years) with a diagnosis of primary testicular tumour. Baseline demographics, clinical characteristics, pathology, treatment and outcomes of these patients were analysed. The data were entered into IBM SPSS Statistics version 20.0. Chi-square test and Fisher's exact test were applied to find the statistical significance, which was set at P value ≤ 0.05. RESULTS: The study included 115 males, with 85 (73.9%) patients in the prepubertal age range with a mean age of 2.53 ± 2.06 years and 30 (26.1%) patients in the postpubertal group with a mean age of 15.73 ± 1.25 years. Yolk sac tumour was the most common (62.6%) histological subtype. Majority (46.1%) of patients had stage I disease on presentation, while 29.6% had stage IV disease. All patients underwent upfront high inguinal radical orchiectomy, which was followed by platinum-based adjuvant chemotherapy in 67% of the patients. The five-year event-free survival and overall survival for all patients were 75% and 91%, respectively. CONCLUSION Primary testicular tumours follow a bimodal age distribution pattern. Majority of patients can be cured with platinum-based chemotherapy despite having advanced disease at presentation.
Humans ; Male ; Testicular Neoplasms/mortality* ; Retrospective Studies ; Adolescent ; Child ; Child, Preschool ; Orchiectomy/methods* ; Chemotherapy, Adjuvant ; Treatment Outcome ; Neoplasm Staging ; Infant ; Endodermal Sinus Tumor/therapy* ; Neoplasms, Germ Cell and Embryonal

Germ cell tumors typically occur in the gonadal regions,characterized by high malignancy and rapid progression.Due to their high sensitivity to chemotherapy,the cure rate is generally high.However,a portion of patients still succumb to chemotherapy resistance and disease progression.The use of immune checkpoint inhibitors has significantly improved the prognosis for various solid tumors,while the immune mechanisms and efficacy of immunotherapy in germ cell tumors remain understudied.Whether relapsed and refractory germ cell tumors can benefit from immune checkpoint inhibitors remains to be investigated.In this review,we summarize the immune-related mechanisms,case reports,and clinical trials of immunotherapy in germ cell tumors to assess the effectiveness of this therapy,providing a reference for future basic research and clinical practice.
Humans ; Neoplasms, Germ Cell and Embryonal/therapy* ; Immune Checkpoint Inhibitors/therapeutic use* ; Immunotherapy ; Testicular Neoplasms/drug therapy* ; Neoplasm Recurrence, Local ; Drug Resistance, Neoplasm

Nongestational ovarian choriocarcinoma (NGOC) is a sporadic and aggressive malignant germ cell tumor, with fewer than 100 cases reported in the literature. We present the case of a 28-year-old woman diagnosed with NGOC, who underwent fertility-sparing surgery and adjuvant bleomycin, etoposide, and cisplatin chemotherapy, followed by a recurrence managed with the second-line chemotherapy and radiotherapy. This report highlights the diagnostic challenges, unique β-human chorionic gonadotropin profile, disease course, and treatment response.

Embryonal rhabdomyosarcoma of the uterus is a rare condition with only a few cases documented. Exceedingly rare, however, is its concomitant incidence with uterine inversion. The infrequency with which genital tract sarcoma with uterine inversion is encountered makes the diagnosis and management a formidable challenge. The present case reports a 12-year-old nulligravida who complained of a rapidly growing introital mass of 3-month duration. Suspicion of nonpuerperal uterine inversion was confirmed by imaging, and malignancy was proven through adequate tissue sampling. While there is no unified protocol in the management of prolapsed genital tract sarcomas, the complete inversion of the corpus necessitated surgery. In the case presented, exploratory laparotomy and total hysterectomy through a double setup, abdomino-vaginal approach was done. The case illustrates the diagnostic, therapeutic, and ethical dilemmas in handling an aggressive tumor in an adolescent. Early recognition and a multidisciplinary approach are extremely crucial in ensuring improved prognosis and holistic treatment.

Objective: To evaluate the incidence, treatment, and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor (MGCT-NDG). Methods: A retrospective study was performed on Swyer syndrome patients with MGCT-NDG between January 2011 and December 2022 in Peking Union Medical College Hospital to investigate their characteristics and outcomes. Results: A total of 15 patients (4.9%, 15/307) with Swyer syndrome were identified in 307 MGCT-NDG patients. The average age at diagnosis of MGCT-NDG and Swyer syndrome were (16.8±6.7) and (16.7±6.6) years, respectively. Six cases were preoperatively diagnosed as Swyer syndrome, of which 4 cases received bilateral gonadectomy with or without hysterectomy, while the other 2 cases underwent removal of gonadal tumor and unilateral gonadectomy with hysterectomy, respectively. Of the 9 patients postoperatively diagnosed as Swyer syndrome, unilateral gonadectomy, removal of gonadal tumor, and unilateral gonadectomy with hysterectomy were performed in 6 patients, 2 patients, and 1 patient, respectively. Mixed malignant germ cell tumor (MGCT;10 cases), yolk sac tumor (4 cases), and immature teratoma (1 case) were the pathological subtypes, in the descending order. There were International Federation of Gynecology and Obstetrics (FIGO) stage Ⅰ in 6 cases, stage Ⅱ in 3 cases, stage Ⅲ in 5 cases, and stage Ⅳ in 1 case, respectively. Eleven patients received reoperation for residual gonadectomy after a average delay of (7.9±6.2) months, including 8 MGCT-NDG patients and 1 gonadoblastoma patient, no tumor involved was seen in the remaining gonads in the other 2 cases. Ten patients experienced at least one recurrence, with a median event free survival of 9 months (5, 30 months), of which 2 patients received surgery only at the time of initial treatment. All patients with recurrence received surgery and combined with postoperative chemotherapy. After a median follow-up of 25 months (15, 42 months), 10 patients were disease-free, 3 patients died of the tumor, 1 died of side effects of leukemia chemotherapy, and 1 survived with disease. Conclusion: The incidence rate of Swyer syndrome in patients with MGCT-NDG is about 4.9%; timely diagnosis and bilateral gonadectomy should be emphasized to reduce the risk of reoperation and second carcinogenesis in this population.
Female ; Humans ; Retrospective Studies ; Gonadal Dysgenesis, 46,XY/surgery* ; Gonadoblastoma/surgery* ; Neoplasms, Germ Cell and Embryonal/surgery* ; Ovarian Neoplasms/pathology*

OBJECTIVE

To investigate the clinicopathologic profile of testicular cancer at the Southern Philippines Medical Center (SPMC) in Davao City from January 2017 to December 2022.

This is a retrospective study that analyzed data from a cohort of 33 patients using a combination of descriptive statistics and chi-square tests.

The study revealed a mean patient age of 35 years, with the majority (82%) falling between 19 and 59 years. Cryptorchidism was associated with 9% of cases, and most tumors (55%) were located on the right side, with sizes between 3 and 10 cm (58%). The predominant symptom was a painless testicular mass (100%), underscoring the importance of self-examination. Pathologic stage distribution indicates a predominance of advanced stages, notably Stage IIIC at 24%. Germ cell tumors constitute 91% (52% seminoma, 39% non-seminoma), with no significant correlation between tumor stage at diagnosis and number of risk factors identified or body mass index (BMI). Symptom duration trends towards significance in association with advanced stages.

The study contributes to a comprehensive understanding of testicular cancer in the Philippines, aligning with global trends. It emphasizes the crucial role of early detection through selfexamination and timely consultation. The prevalence of advanced stages highlights the imperative for heightened awareness and intervention.

Objective: To investigate the clinicopathological features and possible mechanisms of burned-out testicular germ cell tumors. Methods: The clinical and imaging data, histology and immunophenotypic characteristics of three cases of burned-out testicular germ cell tumors diagnosed at the Ruijin Hospital, Medical College of the Shanghai Jiaotong University, from 2016 to 2020 were retrospectively analyzed. The relevant literature was reviewed. Results: The mean age of the three patients was 32 years. Case 1 had an elevated preoperative alpha-fetoprotein level (810.18 μg/L) and underwent "radical pancreaticoduodenectomy and retroperitoneal lesion resection" for a retroperitoneal mass. Postoperative pathology showed embryonal carcinoma, which needed to exclude gonadal metastasis. Color Doppler ultrasound showed a solid mass of the right testis, with hypoechoic lesion and scattered calcification in some areas. Case 2 was a "right supraclavicular lymph node biopsy specimen." Chest X-ray showed multiple metastases in both lungs. The biopsy showed metastatic embryonic carcinoma and bilateral testicular color Doppler ultrasound revealed abnormal calcifications in the right testicle. Case 3 showed a cystic mass of the right testis with calcification and solid areas. All 3 patients underwent radical right orchiectomy. Grossly, borders of the testicular scar areas were well defined. Cross sectioning of the tumors showed a gray-brown cut surface and single focus or multiple foci of the tumor. The tumor maximum diameter was 0.6-1.5 cm. Microscopically, lymphocytes, plasma cells infiltration, tubular hyalinization, clustered vascular hyperplasia and hemosiderin laden macrophages were found in the scar. Atrophic and sclerotic seminiferous tubules, proliferation of clustered Leydig cells and small or coarse granular calcifications in seminiferous tubules were present around the scar. Seminoma and germ cell neoplasia in situ were seen in case 1, germ cell neoplasia in situ was seen in case 2 and germ cells with atypical hyperplasia were seen in case 3. Immunohistochemistry showed that embryonic carcinoma expressed SALL4, CKpan(AE1/AE3) and CD30, seminoma and germ cell tumor in situ expressed OCT3/4, SALL4 and CD117, and spermatogenic cells with atypical hyperplasia expressed CD99 and SALL4. The Ki-67 positive index was about 20%, while OCT3/4 and CD117 were both negative. Conclusions: Burned-out testicular germ cell tumors are rare. The possibility of gonad testicular metastasis should be considered first for extragonadal germ cell tumor. If fibrous scar is found in testis, it must be determined whether it is a burned-out testicular germ cell tumor. The burned-out mechanisms may be related to the microenvironment of tumor immune-mediated and local ischemic injury.
Male ; Humans ; Adult ; Seminoma/secondary* ; Cicatrix/pathology* ; Hyperplasia ; Retrospective Studies ; China ; Testicular Neoplasms/pathology* ; Neoplasms, Germ Cell and Embryonal/surgery* ; Calcinosis ; Carcinoma ; Tumor Microenvironment

Humans ; Mediastinal Neoplasms/pathology* ; Neoplasms, Germ Cell and Embryonal/surgery*

Child ; Humans ; Class I Phosphatidylinositol 3-Kinases/genetics* ; Mutation ; Neoplasms, Germ Cell and Embryonal/genetics*

Contrast-enhanced ultrasound (CEUS) is a new form of ultrasound (US) that can dynamically display microvessels in a highly sensitive manner. The purpose of this study was to investigate the efficacy of CEUS for characterizing testicular lesions in comparison with conventional US. Forty-seven patients with testicular lesions were enrolled. The histopathology results revealed that 31 cases were neoplastic (11 cases of seminomas, 8 nonseminomatous germ cell tumors, 8 lymphomas, 2 Leydig cell tumors, and 2 nonspecific tumors), and 16 cases were nonneoplastic (8 cases of infarctions, 3 epidermoid cysts, and 5 inflammation). The indicators of shallow lobulated morphology and cystic-solid echogenicity on conventional US were suggestive of germ cell tumors. More indicators on CEUS were found to be useful for characterizing testicular lesions. All the neoplastic lesions showed hyperenhancement on CEUS. Moreover, germ cell tumors presented with heterogeneous enhancement (73.7%, 14/19), a twisted blood vessel pattern, rapid wash-in and wash-out, and peripheral rim hyperenhancement signs. Lymphoma was characterized by nonbranching linear vessel patterns (87.5%, 7/8), rapid wash-in and slow wash-out. In nonneoplastic lesions, infarction and epidermoid cysts showed no enhancement, and abscesses were observed with marginal irregular enhancement. The sensitivity, specificity, and accuracy of CEUS for differentiating between neoplastic and nonneoplastic lesions were 100%, 93.8%, and 97.9%, respectively, and these values were higher than those for conventional US (90.3%, 62.5%, and 80.9%, respectively). CEUS can sensitively reflect the microvascular perfusion in testicular lesions and offers high accuracy for characterizing them.
Contrast Media ; Diagnosis, Differential ; Epidermal Cyst ; Humans ; Lymphoma ; Male ; Neoplasms, Germ Cell and Embryonal/diagnostic imaging* ; Sensitivity and Specificity ; Testicular Neoplasms/diagnostic imaging* ; Ultrasonography/methods*