Case Report: Rare Presentation of Mixed Germ Cell Tumor in an Infant

The estimated incidence of pediatric testis tumor is 0.5–2.0 per 100,000 children, accounting for 1–2% of all pediatric tumors. Mixed germ cell tumors (MGCT) in prepubertal males are exceedingly rare, with only one previous case report found in the literature. We report a case of a MGCT in an infant. For prepubertal males, GCTs typically present with a painless scrotal mass, though trauma, testis torsion and hydrocele are also common presentations. Similar to such tumors in postpubertal males, ultrasonography, computed tomography, and tumor markers are integral to determine the best treatment. The patient described in this report presented with a painless scrotal mass. Following orchiectomy, the patient was found to have MGCT that was limited to the testis. With prudent management, these patients tend to have favorable prognoses.

Flagellate Erythema Secondary to Bleomycin for Non-Seminomatous Testis Tumor

The development of flagellate erythema secondary to bleomycin treatment is a rare adverse effect. The prevalence varies between 8 to 22% of patients and it is becoming rarer. Flagellate erythema presents as a scaly erythematous papule. A lower amount of bleomycin hydrolase in regions with reduced production, such as skin and lungs, decreases bleomycin degradation, which allows its accumulation in tissues, triggering an inflammatory process, especially in patients with lower basal enzyme function. We report a clinical case of a severe presentation of flagellate erythema secondary to a patient ongoing bleomycin, etoposide and platinum (BEP) based chemotherapy of non-seminomatous testis cancer.

Preliminary Investigation on the Involvement of Cytoskeleton-Related Proteins, DAAM1 and PREP, in Human Testicular Disorders

Herein, for the first time, the potential relationships between the cytoskeleton-associated proteins DAAM1 and PREP with different testicular disorders, such as classic seminoma (CS), Leydig cell tumor (LCT), and Sertoli cell-only syndrome (SOS), were evaluated. Six CS, two LCT, and two SOS tissue samples were obtained during inguinal exploration in patients with a suspect testis tumor based on clinical examination and ultrasonography. DAAM1 and PREP protein levels and immunofluorescent localization were analyzed. An increased DAAM1 protein level in CS and SOS as compared to non-pathological (NP) tissue was observed, while LCT showed no significant differences. Conversely, PREP protein level increased in LCT, while it decreased in CS and SOS compared to NP tissue. These results were strongly supported by the immunofluorescence staining, revealing an altered localization and signal intensity of DAAM1 and PREP in the analyzed samples, highlighting a perturbed cytoarchitecture. Interestingly, in LCT spermatogonia, a specific DAAM1 nuclear localization was found, probably due to an enhanced testosterone production, as confirmed by the increased protein levels of steroidogenic enzymes. Finally, although further studies are needed to verify the involvement of other formins and microtubule-associated proteins, this report raised the opportunity to indicate DAAM1 and PREP as new potential markers, supporting the cytoskeleton dynamics changes occurring during normal and/or pathological cell differentiation.

PKA drives paracrine crisis and WNT4-dependent testis tumor in Carney complex

ABSTRACTLarge Cell Calcifying Sertoli Cell Tumors (LCCSCTs) are among the most frequent lesions occurring in Carney complex (CNC) male patients. Although they constitute a key diagnostic criterion for this rare multiple neoplasia syndrome resulting from inactivating mutations of the tumor suppressor PRKAR1A leading to unrepressed PKA activity, the LCCSCT pathogenesis and origin remain elusive. Mouse models targeting Prkar1a inactivation in all somatic populations or separately in each cell type were generated to decipher the molecular and paracrine networks involved in the CNC testis lesion induction. We demonstrate that Prkar1a mutation is required in both stromal and Sertoli cells for the occurrence of LCCSCT. Integrative analyses comparing transcriptomic, immunohistological data and phenotype of mutant mouse combinations led to understand the human LCCSCT pathogenesis and demonstrated unprecedented PKA-induced paracrine molecular circuits in which the aberrant WNT4 signal production is a limiting step in shaping intratubular lesions and tumor expansion both in mouse model and human CNC testes.

Be cautious of “complex hydrocele” on ultrasound in young men

Hydrocele is the most common benign cause of painless scrotal enlargement and only very rarely can be reactive to an underlying testicular tumor. We present the case of a healthy young man, complaining of mild left scrotal discomfort and swelling. Physical examination revealed a non-tender fluctuant left scrotum and serum tumor markers were normal. Scrotal ultrasonography (US) showed a normal right hemiscrotum and testicle and a fluid collection among thickened irregular septations in the left hemiscrotum, a finding which was considered as a complex hydrocele. Intraoperatively the presumed “complex hydrocele” was in fact a multicystic testicular tumor. We proceeded with orchiectomy through the scrotal incision and pathology revealed a mixed germ cell tumor of the testis consisting of cystic teratoma, in situ germ cell neoplasia unclassified (IGCNU) and Sertoli cell tumor. This is the first reported case of this type of testis tumor presenting as complex hydrocele. The aim of this case presentation is to underline the need for an accurate preoperative diagnosis in cases of suspected scrotal pathology in young males.

Tumor Testis Methachronous Bilateral Dengan Histopathology Berbeda

Kanker testis adalah keganasan padat paling umum pada pria antara usia 15 hingga 35 tahun dan insidensinya telah meningkat secara signifikan selama dua dekade terakhir. Tumor sel germinal adalah jenis kanker testis yang paling umum terjadi. Namun, tumor testis kurang umum di Asia dibandingkan dengan negara-negara barat, kejadiannya sangat rendah yaitu 0,4 per 100.000 populasi. Mereka selanjutnya diklasifikasikan sebagai seminoma dan non-seminoma. 40% dari semua tumor sel germinal adalah seminoma. Pasien dengan kanker testis unilateral adalah 500 - 1.000 kali lebih mungkin untuk mengembangkan karsinoma testis di testis kontralateral. Tumor sel germinal testis bilateral adalah entitas yang sangat langka, dan insidensinya berkisar dari 1% hingga 5% seperti yang diterbitkan sebelumnya dalam seri besar. Mereka terjadi secara metakron pada 80- 85% kasus dan serempak pada 15-20% kasus. Kami menyajikan kasus tumor testis methachronous bilateral dengan histopatologi yang berbeda pada pria berusia 29 tahun dengan hasil hystopatologycal adalah skrotum seminoma kiri, dan skrotum kanan adalah tumor kantung kuning telur. Kata kunci: Tumor testis, tumor testis methacronous bilateral, histologi berbeda