A Case of Spermatocytic Tumor of Testis

Metastatic spermatocytic tumour with hybrid genetics: breaking the rules in germ cell tumours

Testicular tumors are uncommon in adults, accounting for <1% of all cancers, with testicular germ cell tumors (TGCTs) representing the majority (>95%) of reported cases. Adult and prepubertal TGCTs are fundamentally distinct and the latter is extremely rare, representing 1% of all pediatric solid tumors and having an annual incidence rate of 0.5-2/100,000 boys. Bilateral TGCTs (BTGCTs) account for 0.5-5% of all testicular tumors; the majority are metachronous, while the synchronous account for approximately 0.5-1%. A 16-month-old boy was admitted to our Urology Department with a 2-week history of a painless scrotal mass. Ultrasonography revealed a homogeneous hyperechoic solid mass with rich blood supply in the right testis, and no discernable testicular tissue. A well-delineated heterogeneous echo mass was found within the left testis. Contrast-enhanced computed tomography (CT) scan showed a significantly enhanced mass in the right testis and a mildly enhanced mass in the left testis. Serum alpha-fetoprotein (AFP) was 12,567 ng/mL, while β-human chorionic gonadotrophin (HCG) and total testosterone levels were normal. Accordingly, bilateral testicular tumors were the primary consideration. The patient underwent right radical inguinal orchiectomy with high ligation of the spermatic cord and left testicle-sparing surgery. Final pathology confirmed a pure yolk sac tumor (YST) from the right testis and a cystic mature teratoma from the left. The follow-up ultrasonography showed no recurrence, with serum AFP returned to normal by postoperative day 44. Synchronous primary BTGCT with teratoma and YST respectively can occur coincidently and successfully treated by testicle-sparing surgery.

Spermatocytic seminoma (SS) is a rare testicular germ cell tumor (TGCT), occurring exclusively in the testes. Diagnosis of SS is important because, unlike other testicular tumors, SS must be treated by orchiectomy alone without further adjuvant therapy owing to its inability to metastasize. However, an accurate diagnosis of SS is often difficult given its rarity and the lack of a reliable marker. We report the occurrence of SS in a 92-year-old man—one of the oldest SS patients reported thus far. The patient presented with a painful right scrotal mass, which had been present for 6 months. A computed tomography scan revealed a testicular mass. There was no significant increase in the serum levels of alpha-fetoprotein (AFP) or human chorionic gonadotropin (hCG). A right orchiectomy was performed, which showed a well-circumscribed white-gray mass. A histological examination revealed sheets of non-cohesive cells with little intervening stroma. The tumor consisted of small, medium, and large cells with frequent mitoses, which is suggestive of SS. Whereas common TGCT markers including AFP, hCG, CD30, and placental alkaline phosphatase were all negative, nuclear reactivity for SALL4, a new TGCT marker, and positivity for CD117 (c-kit) finally helped establish the diagnosis of SS. We conclude that SALL4 immunostaining can be helpful for the diagnosis of TGCT when tumors are negative for conventional TGCT markers.

Disclosure: E.P. Monsour: None. S. Badour: None. J.M. Munoz Pena: None. W.T. Donahoo: None. Background: Germ Cell Tumors (GCTs) are a group of heterogeneous tumors that derive from pluripotent germ cells and originate in the yolk sac of the embryo in early gestation. They account for 10% of all central nervous system (CNS) GCTs, primarily occurring in the pediatric and adolescent populations. The co-existence of macroprolactinoma and a mixed CNS GCT is extremely rare, with an unknown worldwide prevalence. Here we report a case of a pituitary macroprolactinoma occurring with a separate primary CNS mixed GCT. Clinical Case: A 19-year-old male presented with a 2-month history of headaches associated with nausea and vomiting. Relevant physical exam findings included decreased visual acuity, absent facial and axillary hair, and prominence of the left testis. Brain MRI demonstrated a pituitary adenoma measuring 3.5 x 2.3 x 3.2 cm extending into the cavernous sinus and an enhancing necrotic lesion in the third ventricle measuring 5.0 x 3.7 x 4.9 cm. Testicular ultrasound revealed two sub-centimeter ill-defined masses in the left testis. Pre-operative labs showed intact thyroid, adrenal, and growth hormone axis. He had a low total testosterone [14.2 ng/dl, reference range (RR): 230-800 ng/dL] with inappropriately normal gonadotrophins and markedly elevated prolactin (PRL) level (2,517 ng/mL, RR &amp;lt;14 ng/mL). Testicular tumor marker, alpha-fetoprotein, was elevated (15.3 ng/dL, RR &amp;lt;9 ng/dL). He was started on glucocorticoids for vasogenic edema and cabergoline twice weekly. He underwent left orchiectomy and subsequent pineal tumor resection. Testicular tumor pathology was consistent with teratoma and a well-differential neuroendocrine tumor with negative margins. Pineal tumor pathology was diagnostic of a mixed GCT. Despite optimal medical therapy, the patient ultimately opted to pursue transsphenoidal tumor resection. Pituitary mass pathology was compatible with a pituitary adenoma, immunoreactive for PRL. Post-operative PRL levels decreased to 6 ng/dL. He achieved a surgical cure without the need to restart dopamine agonist therapy. Conclusion: Simultaneous occurrence of primary brain tumors with different pathologies is estimated to be ∼0.9% of all brain tumors. To our knowledge, only one other case report described an adolescent with a craniopharyngioma and intracranial GCT. This is the first report in the literature of a pituitary macroprolactinoma synchronous with a mixed CNS GCT, and testicular well-differential neuroendocrine tumor with teratoma. Presentation: Friday, June 16, 2023

Testicular seminoma and non-seminoma: ESMO-EURACAN Clinical Practice Guideline for diagnosis, treatment and follow-up

Case summary: 31-year-old male presented with swelling in left scrotum since 2 years. Patient was apparently alright 2 years back but later on he started having increase in testicular size progressively and had a episode of perrectal bleeding 20 days back. Contrast-enhanced MRI of pelvis showed a large heterogeneous lesion measuring 12x9x7 cm involving left testis. There is enhancement and diffuse restriction,?neoplastic nature,?germ cell tumor of left testis. Left orchidectomy was done and the specimen was sent to pathology department. On histopathology and IHC examination, the features were consistent with spermatocytic tumor. Spermatocytic tumor indeed, is a rare but distinct subtype of testicular germ cell tumor, comprising about 1% of all testicular germ cell tumors and a small percentage of all seminomas. Its occurrence is primarily in older males, typically in the 5th and 6th decades of life, distinguishes it from classic seminoma, which is more common in younger age groups. Histopathology and immunohistochemistry are necessary for confirmatory diagnosis. Keywords: Testicular tumor, Germ cell tumor, Spermatocytic tumor.

Testicular tumors are incredibly diverse and one of the most challenging areas in surgical pathology. Because of the rarity and overlapping features with numerous entities occurring in the testis and paratestis, these tumors pose a diagnostic challenge even to the most experienced general pathologists. In 2016, the latest "World Health Organization (WHO) classification of testicular tumors" was released, which incorporated several updates to the previous 2004 classification system. These updates involved several entities, including germ cell tumors, sex cord-stromal tumors, tumors containing both germ cells and sex-cord stromal cells, a miscellaneous group of testicular tumors and paratesticular tumors. In addition, significant changes were also introduced in the 2018 AJCC TNM staging (8th edition) regarding testicular tumors. The germ cell tumors are divided into 2 major groups; tumors derived from germ cell neoplasia in situ (GCNIS) and those unrelated to GCNIS. The GCNIS associated tumors include seminomatous and nonseminomatous germ cell tumors, which constitute a heterogeneous group of tumors. Non-GCNIS-associated tumors include prepubertal-type teratoma, prepubertal yolk sac tumor, mixed prepubertal-type teratoma and yolk sac tumor and spermatocytic seminoma. In the sex cord-stromal category, the tumors are classified based on their cells of origin. Most are Leydig cell tumors and Sertoli cell tumors; however, several mixed and diverse entities based on cell types are included in this group. Gonadoblastoma is the only tumor in the mixed germ cell and sex cord-stromal tumor category. Because of recent advances in molecular techniques, abundant new genetic information has emerged which helped classify the tumors based on the molecular alterations and provided insights into the tumor pathogenesis. This review focused on the updates related to testicular germ cell tumors and sex cord-stromal tumors and described the morphologic, immunohistochemical and molecular characteristics with an aim to provide a practical diagnostic approach and an update on relevant recent molecular advances.

Testicular tumours in hong kong and guangzhou - a study of 359 cases

SEXUAL FUNCTIONING AFTER MULTIMODALITY TREATMENT FOR DISSEMINATED NONSEMINOMATOUS TESTICULAR GERM CELL TUMOR

ZBTB16: a novel sensitive and specific biomarker for yolk sac tumor

Introduction: Bilateral testicular tumours occur in 3–5% of all cases with testicular neoplasms. In the majority of cases, histology of the two new growths is identical. The time interval between the two neoplastic events rarely exceeds 10 years. Case Presentation: A 29-year-old man of Caucasian descent underwent right-sided orchiectomy for a nonseminomatous germ cell tumour (GCT). Postoperatively, he received adjuvant chemotherapy with 2 cycles of a cisplatin based regimen for clinical stage 1 disease. Twenty-seven years later when aged 56 years, he developed a lump in the left testis. Serum tumour markers including microRNA-371a-3p were within normal limits. Orchiectomy was performed. Histology revealed a spermatocytic tumour with positive stainings of SALL4, NUT, and CD117. No germ cell neoplasia in situ (GCNis) was detected in the tumour-surrounding tissue. Conclusion: Histogenetically, testicular GCTs are thought to derive from the precursor GCNis, while spermatocytic tumours directly derive from adult spermatogonia. This case is exceptional, firstly because of the very long interval of 27 years between the two neoplastic events, and secondly because of the unprecedented occurrence of two testicular neoplasms with different pathogenetic origins in 1 individual patient.

Testicular tumors constitute a rare type of cancer affecting adolescents and young adults with recent reports confirming an increase in incidence worldwide. The purpose of this study was to estimate the epidemiological characteristics and histological subtypes of testicular tumors in the Lebanese population according to the WHO classification of testicular and paratesticular tumors. In this single institutional retrospective study, all patients diagnosed with a testicular tumor in Hotel-Dieu de France Hospital University in Beirut between 1992 and 2014 were enrolled. The age, subtype based on the 2004 WHO classification and body side of tumor were analyzed. A total of two hundred and forty-four (244) patients diagnosed with a testicular tumor in our institution were included in the study. Two hundred and one patients (82.4% of all testicular tumors) had germ cell tumors (TGCT). Among TGCT, 50% were seminomatous tumors, 48% non-seminomatous tumors (NST) and 2% were spermatocytic seminomas. The NST were further divided into mixed germ cell tumors (63.9%), embryonic carcinomas (18.6%), teratomas (15.4%) and yolk sac tumors (2.1%). The mean age for testicular tumors was 32 years. The mean age for germ cell tumors was 31 years and further subtypes such as seminomatous tumors had a mean age of 34 years, 28 years in non-seminomatous tumors and 56 years in spermatocytic seminoma. Patients with right testicular tumor were the predominant group with 55% of patients. Three patients (1.2%) presented with bilateral tumors. The distribution of different subgroups and the mean age for testicular tumors proved comparable to most countries of the world except for some Asian countries. Germ cell tumors are the most common subtype of testicular tumors with seminomatous tumors being slightly more prevalent than non-seminomatous tumors in Lebanese patients.

This review deals with serologic and immunohistochemical tumor markers used in clinical laboratories for the diagnosis of testicular germ cell tumors. Time tested serologic markers such as alpha-fetoprotein, human chorionic gonadotropin, and lactate dehydrogenase are routinely used in the work-up of patients with testicular tumors. Professional organizations regulating the practice of medicine in most countries worldwide require that the laboratory values for these serologic reactants be included in the pathology reports on testicular tumors as part of the tumor staging process. Immunohistochemical markers of testicular germ have been identified and widely tested during the first two decades of the XXI century. We have selected the most useful immunohistochemical markers from a few of these markers and discussed them in this review. CONCLUSION: Published data show that testicular tumor markers are widely used in routine practice. The study of tumor markers has improved the pathologic and clinical diagnosis of testicular germ cell tumors and has thus contributed to their treatment.

Prompted by the observation of retroviral particle formation in teratocarcinoma cell lines and the consistent finding of antibodies against Gag and Env proteins encoded by human endogenous retrovirus (HERV)-K genomes in the sera of patients with classical seminoma, we studied ovarian and testicular germ cell tumours, their precursor lesions, dysgenetic gonads, and trophoblast lesions for expression of HERV-K sequences by in situ hybridization using radioactive and non-radioactive probes. HERV-K transcripts were detected in all testicular and ovarian germ cell tumours with the exception of teratomas and spermatocytic seminomas. HERV-K expression was also common to testicular carcinoma in situ as well as gonocytes of dysgenetic gonads. Among gestational trophoblastic lesions, HERV-K expression was regularly found in choriocarcinomas, but not in molar lesions. The patterns of HERV-K expression suggest a common molecular pathogenesis of most germ cell tumour entities and malignant gestational trophoblastic disease. They furthermore support the concept of carcinoma in situ as a precursor lesion common to most testicular germ cell neoplasms. The detection of HERV-K gene products in body fluids and tissues may aid diagnosis and monitoring of germ cell tumours and related lesions.

Prepubertal Testicular Germ Cell Tumors: 25-year Experience in Taipei Veterans General Hospital