Epidermoid cyst of the adult testis. Case report and literature review

BACKGROUND: Testicular epidermoid cysts (TEC) are rare lesions often incidentally discovered and radically treated. They present as testicular firm palpable mass. Ultrasound and MR may be useful in characterizing the lesion. Diagnosis depends on histology. The real understanding of biological behaviour and clinical management is unresolved. We report the case of a young male who underwent to surgical keratocyst enucleation. CASE REPORT: A 16 y.o. male presented for a firm mass in the testis. The right testis presented with a palpable painless mass in the middle portion. Inguinal and supraclavicular lymph nodes were negative. Serum markers (AFP, bHCG, PLAP and LDH) were normal. Scrotal sonography (US) reported a well circumscribed 2 centimetres mass with intervening septa and coexisting solid areas: intralesional calcifications were not described. Magnetic Resonance (MR) ruled out secundarisms and intralesional contrast enhancement. Biopsy with was offered. RESULTS: Frozen section was suggestive for mature keratocyst and surgical enucleation of the mass was offered. DISCUSSION: TEC are benign tumors which arise from ectoderm, endoderm or mesoderm tissues. They account for around 1-2% of all testicular masses and tipically present in mid-adulthood. The etiology is still debated and whether these should be classed as a variant of mature teratoma is still under discussion. Simple TEC correspond to the prepubertal-type teratoma of the 2018 WHO classification and are unrelated to germ cell neoplasm in situ (GCNIS). Post-pubertal variant may be more frequently associated with invasive GCT and should be radically treated especially when bad prognostic features coexist: due to this reason the are identifyed as complex TEC. Clinically keratocysts are highly indistinguishable to all testicular neoplasms. Serum markers are negative too. Sonographic study (US) may guide diagnosis: they present as non-vascular, well marginated intratesticular masses with a lamellar ‘onion skin’ or ‘bull-eye’ image and avascular centre. Contrast enhanced ultrasound (CEUS) and Magnetic Resonance (MR) also provide with more informations since the absence of contrast enhancement highly suggest the benign nature of the lesions. Diagnosis only depends on histology: differentiation from coexisting enthities such as teratomas, germ cell tumors (GCT) and granulomatous disease is mandatory also in pre-pubertal forms. Microscopically, cellular atypia, mitotic activity, necrosis, hemorrhage and epythelial hyperplasia are usually missing in pre-pubertal ones totally suggesting a benign behaviour. Moreover, no case of recurrence or metastases have been to date reported in literature: partial orchiectomy or testis-sparing excision with frozen section is becoming day by day the standard treatment. CONCLUSION: Testicular keratocysts are rare lesions commonly presenting in young male and indistinguishable from other testicular lesions. Pre- and post-pubertal form represent the main variants. Biologic behaviour and clinical management is still unresolved. Pre-pubertal form are not related to IGCNIS and no cases of spreading have been reported to date: differently from post-pubertal ones they are considered benign tumors to date. Serum markers, sonographic features and MR may be helpful in making diagnosis and surgical planning. Only histology confirms the nature of the lesion and ruling out coexisting histotype. The importance of accurate diagnosis is crucial for preventing unncessary orchiectomy since testicular sparing surgery shoudl be offered

Non-urothelial bladder neoplasms: small-cell neuroendocrine cancer

BACKGROUND: Neuroendocrine tumors (NET) are uncommon neoplasms. Small cell carcinoma of the bladder (SCCB) is a rare, poorly differentiated neuroendocrine tumor. It takes origin from cells of nervous and endocrine systems whitin the bladder. Data in literature are limited and still remains under discussion the best therapeutic approach. Treatment may be multimodal. Prognosis remains poor. Here we report the case of old male affected by SCCB. While opportunely describing it, we also reviewed the literature. CASE REPORT: A 85 years old male presented to us for asymtomatic gross hematuria recently occurred. Bladder ultrasound (US) revealed a 4 cm mass on left wall highly suspicious for neoplasm. Total body contrast-enhanced CT confirmed the lesion; no signs of local infiltration, hydronephrosis or visceral-lyph nodes secundarisms were described. A trans urethral resection of the bladder (TURB) was offered. RESULTS: Pathology report revealed a high-grade T1G3 urothelial carcinoma (30% of specimen) associated to small-cell neuroendocrine variant (70% of specimen): microscopic muscle involvement was excuded. In order to better characterize the neuroendocrine differentiation, immunohistochemistry was mandatory: cytokeratin AE1-3, synaptophysin and Ki-67 were used as molecular markers (Fig. 1). Urothelial histotype resulted positive for cytokeratine but negative for synaptophysin while the neuroendocrine variant was positive for both of them. Ki-67, a molecular marker adopted as expression of proliferation rate, was 90% totally suggesting an aggressive mixed bladder neoplasm. The patient was classed as a highest-risk. Radical cystectomy with extended lymp nodes dissection was offered. DISCUSSION AND CONCLUSIONS: Non-urothelial bladder cancers are uncommon neoplasms: they include neuroendocrine tumor (NET), squamous cell carcinoma (SCC), adenocarcinoma, micropapillary (MCP), plasmocitoid (PUC) and sarcoma. Two forms of bladder NET have been described in literature: small- and a large-cell. Small-cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine tumor accounting for 0,5-1,0% of all bladder neoplasms3 and characterized by a highly aggressive course. Patients affected are considered at highest-risk of metastatic spreading and poor prognosis. Risk factors are not completely known. SCCB commonly arises from cells of the endocrine and nervous systems differently expressed whitin the human bladder. Neuroendocrine lesions are histologically graded according to markers of cellular proliferation (Ki-67 index) rather than cellular polymorphism2: whenever urothelial hystotipe coexists, the WHO 2004 grading system is used to classify the urothelial variant. On immunoistochemistry, SCCB is reactive for neuroendocrine markers such as synaptophysin, chromogranin and periodically for CK7 and CK20. TNM system is currently used to staging these neoplasms. Clinical presentation is variable depending from location, staging and visceral-lymph nodes involvement. Radical cistectomy represents the gold standard. A multimodal treatment may be also offered differently combining surgery with chemoterapic regimens. The prognosis remains poor

Prepubertal intratesticular keratocyst. Case report and literature review

BACKGROUND: Testicular epidermoid cysts (TEC), also known as keratocysts, are rare lesions accounting for 1% of all testicular masses4,9,11. Most of them are incidentally discovered and radically treated5,8,9. Clinically they present as firm palpable mass highly undistinguishable from other testicular cancers. Scrotal sonography (US), contrast enhanced ultrasound (CEUS) or magnetic resonance (MR) describe the lesion1,2,8 but diagnosis depends on histology. Although no cases of metastases have been reported to date in literature7 ,the real understanding of biological behaviour and clinical management is unresolved2,3. We report the case of a young patient affected by testicular keratocyst who underwent to surgical enucleation. By describing this case we also reviewed literature about histologic features of pre-pubertal form and the feasibility and safety of this procedure. CASE REPORT: A 16 y.o. caucasian male presented for a firm mass recently discovered on self examination. Anamnesis was uneventfull for genital infections or trauma: no familiarity for testicular cancer was reported. The right testis presented with a palpable painless mass in the middle portion of the testis, entirely covered by normal parenchima. Inguinal and supraclavicular lymph nodes were negative and serum markers (AFP, bHCG, PLAP and LDH) too. Scrotal sonography (US) reported a well circumscribed 2 centimetres mass within the right testis with intervening septa and coexisting solid areas: intralesional calcifications were not described. Intralesional vascularity was ruled out on ecodoppler. MR was negative for secundarisms; furthermore the exam did not reveal any intralesional contrast enhancement, totally suggesting a bening lesion. Testicular biopsy was offered. RESULTS: Frozen section was suggestive for mature keratocyst and surgical enucleation was offered. The lesion presented macroscopically as a 20 x 22 x 25 millimetres mass highly indishinguable from any malignant neoplasms. And totally covered by normal testicular parenchima. On microscopic evaluation the lesion was composed by horny material well delimited by a cystic wall (Fig.1) of squamous epithelium. No association with Intratubular Germ Cell Neoplasms (IGCN) was found nor cellular atypia or mitotic activity. Definely it was classed as pre-pubertal mature intratesticular epidermoid cyst. DISCUSSION: TEC are benign tumors which arise from ectoderm, endoderm or mesoderm tissues4,9,11. They account for around 1-2% of all testicular masses4,9,11 and tipically present in mid-adulthood. Caucasian males are more involved. The etiology is still debated2,3 (Cakiroglu B.; Cook). Two main form of TEC have been described in literature: pre-and post-pubertal. Pre-pubertal TEC have been historically considered as benign lesions since no association with germ cell neoplasm in situ (GCNIS) have been reported nor cases of metastasic spread. Histology often rules out unfavorable prognostic features such coexisting lesions or association with germ cell neoplasms. Due to this reason, they have been names “simple testicular epidermoid cyst”. Clinically, they are as highly indistinguishable to all testicular cancers and often presenting as a firm, painless palpable mass within the testis: the right testis seems to be more involved than left (Kenan). Serum markers are always negative too7 (Kenan). US may guide diagnosis since these lesion show typical radiographic features: a well marginated intratesticular masses with a lamellar ‘onion skin’ or ‘bull-eye’ pattern and avascular centre1,2,8 might always suggest testicular keratocyst (Cakiroglu; Muoka; Anheuser). CEUS also provides with more informations ruling out intralesional vascularity. MR imaging better describes the tumor, rules out secundarism or local infiltration and evaluates the absence of contrast enhancement which further suggest a benign nature. Although these features can guide clinical orientation, diagnosis only depends on histology: differentiation from coexisting enthities such as pure teratomas, germ cell tumors (GCT) or granulomatous disease is mandatory also in pre-pubertal forms. Uncommon features such as cellular atypia, mitotic activity, necrosis, hemorrhage and epythelial hyperplasia need to be missing also in these forms5,6,11 (Umar; Dockerty; Ewen). Partial orchiectomy or testis-sparing excision with frozen section is becoming day by day the standard treatment2 (Carikoglu et al); however, as the final pathology report describes a teratomatous lesion or malignant features, further radical orchiectomy is required. In our case the patient underwent contrast enhanced MR at 6 and 12 month which ruled out any visceral or lymph nodes metastases. Ultrasound of the testis excluded local recurrence. CONCLUSION: Testicular keratocysts are rare lesions commonly presenting in young male and clinically indistinguishable from other testicular lesion. Pre- and post-pubertal form represent the two main variants. Biologic behaviour and clinical management is still unresolved. Pre-pubertal variants are not related to IGCNIS or unfavorable histologic features; no cases of spreading have been reported to date and they are considered benign tumors. Serum markers, CEUS and MR may be helpful in making diagnosis and surgical planning. Only histology confirms the nature of the lesion ruling out coexisting histotypes. The importance of accurate diagnosis is crucial for preventing unncessary orchiectomy: testicular sparing surgery should be offered