Contemporary Updates on Sex Cord-stromal Tumors of the Testis.

Testicular sex cord-stromal tumors (TSCSTs) are relatively rare, representing ~5% of testicular neoplasms overall. Historically, TSCSTs have been classified into 3 major entities: Leydig cell tumor, Sertoli cell tumor, and granulosa cell tumor. In recent years, immunophenotypic and molecular analyses have led to a more detailed understanding of the biological and genomic features of these neoplasms, resulting in the description of new entities, some of which have been included in the latest WHO classification. This review summarizes novel histopathologic, clinical, and molecular findings that may lead to a reappraisal of established concepts and help improve the diagnosis and clinical management of TSCSTs in the coming years.

[Testicular Malignant Sertoli Cell Tumor with Long-Term Survival After Pulmonary Metastasectomy: A Case Report].

A 45-year-old man was referred to our hospital with a complaint of right scrotal discomfort. With a diagnosis of testicular tumor, right orchiectomy was performed. The tumor was histologically diagnosed as malignant Sertoli cell tumor pT1N0M0. A pulmonary nodule appeared, 53 months after the operation, and increased in size there after. Thoracoscopic left upper lobectomy was performed 64 months after the operation, and the pathological diagnosis was metastasis of malignant Sertoli cell tumor. No recurrence has been observed for 94 months after the resection of the metastatic lesion.

The sclerosing sertoli cell tumor of the testis: a case report.

BACKGROUND: Testicular Sertoli cell tumor (SCT) is very rare sex cord-gonadal stromal tumor, and sclerosing SCT (SSCT) is even rarer. So far, no more than 50 cases of SSCT have been reported. 80% of SSCTs are less than 2 cm in diameter, large volume mass is pretty unusual. SSCT is usually benign with very low malignant potential. However, it is easily misdiagnosed as a malignant tumor resulting in the removal of the entire testicle. CASE PRESENTATION: A 55-year-old Chinese male patient presented with a six months' history of right testis progressively enlargement and negative tumor markers. The physical examination was nothing special except for swelling in the right testicle. Imaging identified a large mass in right testicle with rich blood. A right radical orchiectomy was performed on suspicion of malignancy. However, the tumor was postoperatively diagnosed as SSCT, which pathologically consisted of a tubular pattern with regular nuclei and embedded in a densely collagenous stroma, as well as diffusely positive for vimentin, ß-catenin and synaptophysin. After 7 months of follow up, no evidence of local recurrence and metastasis has been observed. CONCLUSION: This rare case is helpful to expand the knowledge of the testicular tumor and alert us fully understand the rare variant of SCTs in order to choose the optimal management when they encounter SSCT.

A 14-Year-Old Saudi Boy with Gynecomastia, Cushing Syndrome, Large-Cell Calcifying Sertoli Cell Tumor of the Testis, and Carney Complex.

BACKGROUND Carney complex (CNC) is a rare multiple neoplasia syndrome with autosomal dominant inheritance. CNC is frequently misdiagnosed owing to its diverse clinical characteristics. We reported the case of a 14-year-old Saudi boy with a history of gynecomastia, Cushing syndrome, large-cell calcifying Sertoli cell tumor of the testis, and CNC. CASE REPORT The patient was referred to the pediatric endocrine clinic for evaluation of bilateral slow progressing gynecomastia for 1-year duration. His clinical examination revealed lentigenes, bilateral diffuse breast enlargement (consistent with Tanner stage III), and asymmetrical testicular enlargement, more on the left side. Other systemic examinations were unremarkable. The initial blood workup showed elevated estradiol level with unsuppressed cortisol after an overnight 1-mg dexamethasone suppression test. Breast ultrasound (US) confirmed true gynecomastia. Testicular US revealed microcalcification and the testicular biopsy confirmed diagnoses of large-cell calcifying Sertoli cell tumor (LCCSCT). A 2-step dexamethasone suppression test showed a paradoxical rise in serum and urine cortisol levels, which are characteristic for PPNAD. LCCSCT and PPNAD are 2 major criteria fulfilling a diagnosis of CNC. The gene test showed heterozygous mutation in the PRKAR1A gene, which is diagnostic for CNC. The patient underwent bilateral mastoplasty and was planned for radical left orchiectomy. CONCLUSIONS Gynecomastia and LCCSCT can be presenting features of CNC, which mandates careful, thorough clinical examination and tailored investigation to reach a diagnosis.

News in the classification of WHO 2022 testicular tumours.

The novelties in WHO 5th edition classification of genitourinary tumours are: a) nomenclature changes, including the replacement of the term "primitive neuroectodermal tumour" with "embryonic-type neuroectodermal tumour" and of "carcinoid" with "neuroendocrine tumour". Also, seminoma is now placed in a "germinoma" family of tumours, while sertoliform cystoadenoma was moved from adnexal tumours to Sertoli cell tumours; b) new entities, specifically signet ring stromal tumour, myoid gonadal stromal tumour and well-differentiated papillary mesothelial tumour.

[Diagnosis and treatment of rare testicular tumors using the example of malignant mesothelioma of the tunica vaginalis testis and Sertoli cell tumors]. / Diagnose und Therapie seltener Hodentumoren am Beispiel des malignen Mesothelioms der Tunica vaginalis testis und Sertoli-Zell-Tumoren.

BACKGROUND: Rare tumors of the testis not originating from germinal epithelium are a diagnostic and therapeutic challenge. OBJECTIVES: To present current approaches in rare tumors of the testis using the examples of Sertoli cell tumor (SCT) and malignant mesothelioma of the tunica vaginal testis (MMTVT). METHODS: A literature search in PubMed and the abstract databases of ASCO and ESMO was performed. Articles and book chapters were selected based on relevance to everyday treatment. RESULTS: The low incidence of testicular tumors not originating from the germinal epithelium makes a standardized approach difficult. Diagnosis and treatment depend on the underlying diagnosis. While most SCT are benign, malignant subtypes require extensive resection including metastatic surgery if complete resection is possible. In MMTVT, multimodality treatment concepts are followed, according to the malignant mesotheliomas of the pleura. CONCLUSION: Systematic registration of rare testicular tumors and comprehensive molecular pathological analysis are urgently needed to improve the understanding of tumor biology and to develop new therapeutic strategies.

Sertoli cell tumor/mixed germ cell-stromal cell tumor as separate neoplasms in a bilaterally cryptorchid dog.

An 11-year-old miniature poodle dog was presented with bilateral flank alopecia, gynecomastia, severe thrombocytopenia, and preputial edema. Based on characteristic clinical and hematological findings of hyperestrogenism and the presence of a caudal abdominal mass, a Sertoli cell tumor (SCT) was diagnosed. After a platelet concentrate transfusion, the SCT was surgically removed in addition to an atrophied contralateral testicle containing a mixed germ cell-stromal cell tumor. Recovery was uneventful. This combination of different neoplasms in separate testicles has yet to be documented. Key clinical message: This case of a SCT/mixed germ cell-stromal cell tumor combination in a bilaterally abdominal cryptorchid dog highlights common clinical signs associated with hyperestrogenism and the management of estrogen-induced myelotoxicity causing severe thrombocytopenia.

Un caniche miniature âgé de 11 ans fut présenté avec alopécie bilatérale des flancs, gynécomastie, thrombocytopénie sévère et oedème préputial. Sur la base des trouvailles cliniques et hématologiques caractéristiques d'hyperoestrogénisme et la présence d'une masse abdominale caudale, une tumeur à cellules de Sertoli (SCT) fut diagnostiquée. À la suite d'une transfusion d'un concentré de plaquettes, la SCT fut retirée chirurgicalement en plus d'un testicule controlatéral atrophié contenant une tumeur mixte à cellules germinales-cellules stromales. La guérison s'est passée sans problème. Cette combinaison de néoplasmes différents dans des testicules séparés n'avait jamais été documentée.Message clinique clé :Ce cas de combinaison de SCT/tumeur mixte cellules germinales-cellules stromales chez un chien cryptorchide abdominal bilatéral met en lumière les signes cliniques fréquents associés avec l'hyperoestrogénisme et la gestion de myélotoxicité induite par les oestrogènes causant une thrombocytopénie sévère.(Traduit par Dr Serge Messier).

An Unusual Presentation of Carney Complex

Carney complex (CNC) is a multiple neoplasia syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine and non-endocrine tumors. Most of the cases have an inactivating mutation in the PRKAR1A gene. Osteochondromyxoma (OMX) is an extremely rare myxomatous tumor of bone, affecting 1% of CNC patients. Large cell calcifying Sertoli cell tumor (LCCSCT) is a testicular tumor affecting more than 75% of males with CNC. Here, we report an atypical case of CNC without typical pigmented skin lesions, presenting with a bone based tumor as the first manifestation. Initial presentation was for a recurrent, locally invasive intranasal tumor without definite diagnosis. Further clinical developments during follow up, central precocious puberty and testicular tumor with calcification, led to the diagnosis of LCCSCT, a CNC-related tumor. Histopathologic examination of the intranasal tumor was re-evaluated with this knowledge and OMX was diagnosed. Coexistence of OMX and LCCSCT suggested CNC. Genetic analysis revealed a heterozygous non-sense p.Trp 224* (c.672G>A) in the PRKAR1A gene. In our case, the diagnosis of OMX was delayed, because it is extremely rare and little is known about this tumor. Thus the aim of this report was to alert other clinicians to consider CNC if OMX is diagnosed.

Case Report of Misleading Features of a Rare Sertoli Cell Testicular Tumor.

Testicular Sertoli cell tumors are extremely rare. Generally, they are benign neoplasms, which belong to a group called sex cord-stromal tumors. In this article, we present a case report of a Sertoli cell tumor, which was accidentally discovered during a urological consultation of a 42-year-old male. An ultrasound showed a 2.1 x 2.2 cm hypoechogenic, hypervascular tumor in the middle third of the left testicle. Serum tumor markers (α-fetoprotein, alkaline phosphatase, ß-human chorionic gonadotropin, and lactic dehydrogenase) were all within the normal range. Rapid microscopic evaluation of fresh frozen sections during the operation was inconclusive, which led to a decision not to perform a radical orchiectomy immediately. On formalin-fixed paraffin-embedded (FFPE) sections, the tumor histology showed atypical patterns, and immunohistochemical analysis was performed in order to determine the type of neoplasm and differentiate it from other types of testicular tumors, so as to assign the further course of treatment. Radical inguinal orchiectomy was performed. The final pathology report showed a tumor with no predictive signs of aggressive behavior, which most closely resembled a Sertoli cell tumor.

Practical Review of Ovarian Sex Cord-Stromal Tumors.

Ovarian sex cord-stromal tumors are uncommon tumors and clinically differ from epithelial tumors. They occur across a wide age range and patients often present with hormone-related symptoms. Most are associated with an indolent clinical course. Sex cord-stromal tumors are classified into 3 main categories: pure stromal tumors, pure sex cord tumors, and mixed sex cord-stromal tumors. The rarity, overlapping histomorphology and immunoprofile of various sex cord-stromal tumors often contributes to diagnostic difficulties. This article describes the various types of ovarian sex cord-stromal tumors and includes practical approaches to differential diagnoses and updates in classification.

A Contemporary Review of Common Adult Non-germ Cell Tumors of the Testis and Paratestis.

This article provides a comprehensive review of non-germ cell tumors of the testis and paratestis in adults, incorporating the latest 2016 World Health Organization updates. Clinical features, gross pathologic findings, key morphologic details, immunohistochemical profiles, and differential diagnoses are covered, with an emphasis on how to resolve commonly encountered, and sometimes difficult, differential diagnoses.

Malignant Sertoli cell tumor of the testis masquerading as seminoma with bone metastasis.

Sex cord-stromal tumors of the testes are rare malignancies as compared to germ cell tumors. Pure Sertoli cell tumors are still rare representing <1% of testicular cancers and the malignant forms are too rare. Furthermore, the occurrence of metastasis in such cases is extremely rare with <30 cases reported in literature so far to the best of our knowledge. We present herein a case of malignant Sertoli cell tumor in a 48-year-old male who was initially misdiagnosed as seminoma based on histology and clinical presentation. Four months later, he presented with symptoms due to bony metastasis and found to have widespread metastatic disease which is a very rare presentation of Sertoli cell tumors. Diagnosis of sex cord-stromal tumor requires high index of suspicion as these tumors are most of the times misdiagnosed as germ cell tumors due to their rare incidence and atypical presentation leading to mismanagement. Timely diagnosis at an early stage can provide therapeutic benefit due to lack of well-defined treatment options at advanced stages.

Mayer-Rokitansky-Küster-Hauser Syndrome With Bilateral Ovarian Sertoli Cell Tumors: Review of the Literature and Report of a Rare Case.

BACKGROUND: Patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are infertile secondary to hypoplasia or complete agenesis of the uterus, yet they remain at risk of primary neoplasms of the ovaries because embryologically the uterus and ovaries develop via separate mechanisms. CASE: A 72-year-old nulliparous woman with a history of primary amenorrhea underwent an exploratory laparotomy for a suspected uterine fibroid. In addition to the pelvic mass, the patient was found to have findings consistent with MRKH syndrome. Postoperative pathological examination demonstrated bilateral ovarian Sertoli cell tumors. CONCLUSIONS: The case presented is unique in that 2 rare pathologies, bilateral Sertoli cell tumors of the ovary and MRKH syndrome, developed concomitantly in the same patient.

Organ-sparing surgery for large cell calcifying Sertoli cell tumour in a patient with Carney complex.

Carney complex is a rare genetic disease characterised by a complex of myxomas, spotty pigmentation and endocrine overactivity. At diagnosis, about one-third of male patients presents with testicular tumours, namely large cell calcifying Sertoli cell tumours, which are often multicentric and/or bilateral and have a low malignant potential. Although radical orchiectomy is the gold standard for the treatment of testicular neoplasms, a conservative approach with partial orchiectomy or tumourectomy may be the best treatment option for these patients, allowing the preservation of endocrine function, fertility and body image. We present a case of a 19-year-old man with a known history of Carney complex with early identification of a small testicular tumour treated with organ-sparing surgery.

Benign Large-cell Calcifying Sertoli Tumor of the Testis in a 13-Year-Old Male Patient Treated With Partial Orchiectomy.

Large-cell calcifying Sertoli cell tumor (LCCSCT) of the testis is an exceptionally rare lesion, found sparsely in any medical literature. There is a correlation between this entity and Peutz-Jeghers syndrome and Carney complex (40% of tumors). The remaining 60% of tumors are sporadic. A 13-year-old male patient underwent a left partial orchiectomy. Intraoperative frozen section was used, and pathology revealed a benign LCCSCT with negative margins. To our knowledge, there is not a case in the literature of an LCCSCT being treated with partial orchiectomy in a pubertal male with a normal contralateral testis.