Sex cord-stromal tumor with annular tubules of the ovary – a case report

Sex cord-stromal tumors with annular tubules (SCTAT) of the ovary are rare. They have two clinicalpresentation forms: the syndromic form which is associated with Peutz-Jeghers syndrome and thenon-syndromic form which is frequently seen in the second or third decades. We describe a 25-year-old patient who underwent exploratory laparotomy. Macroscopically large ovarian mass was24.5×24×8 cm in diameter, encapsulated, congested, and lobulated. On the cut section, it wasgreyish with small cystic and hemorrhagic areas. Microscopically, the tumor mass is composed ofmany simple and complex tubular structures that have eosinophilic PAS-positive hyaline globules inthe center and are surrounded by peripheral palisading of the cells. Finally, the tumor was diagnosedas non-syndromic ovarian SCTAT.

CYLD-mutant cylindroma-like basaloid carcinoma of the anus: a genetically and morphologically distinct class of HPV-related anal carcinoma

Rare reports of anal carcinoma (AC) describe histologic resemblance to cutaneous cylindroma, but mutations in the tumor suppressor CYLD, the gene responsible for familial and sporadic cylindromas, have not been systematically investigated in AC. Here, we investigate CYLD-mutant AC, focusing on molecular correlates of distinct histopathology. Comprehensive genomic profiling (hybrid-capture-based DNA sequencing) was performed on 574 ACs, of which 75 unique cases (13%) harbored a CYLD mutation. Clinical data, pathology reports, and histopathology were reviewed for each CYLD-mutant case. The spectrum of CYLD mutations included truncating (n = 50; 67%), homozygous deletion (n = 10; 13%), missense (n = 16; 21%), and splice-site (n = 3; 4%) events. Compared with CYLD-wildtype AC (n = 499), CYLD-mutant ACs were significantly enriched for females (88% vs. 67%, p = 0.0001), slightly younger (median age 59 vs. 61 years, p = 0.047), and included near-universal detection of high-risk HPV sequences (97% vs. 88%, p = 0.014), predominantly HPV16 (96%). The CYLD-mutant cohort also showed significantly lower tumor mutational burden (TMB; median 2.6 vs. 5.2 mut/Mb, p < 0.00001) and less frequent alterations in PIK3CA (13% vs. 31%, p = 0.0015). On histopathologic examination, 73% of CYLD-mutant AC (55/75 cases) showed a striking cylindroma-like histomorphology, composed of aggregates of basaloid cells surrounded by thickened basement membranes and containing characteristic hyaline globules, while only 8% of CYLD-wildtype tumors (n = 34/409) contained cylindroma-like hyaline globules (p < 0.0001). CYLD-mutant carcinomas with cylindroma-like histomorphology (n = 55) showed significantly lower TMB compared with CYLD-mutant cases showing basaloid histology without the distinctive hyaline globules (n = 14) (median 1.7 vs. 4.4 mut/Mb, p = 0.0058). Only five CYLD-mutant cases (7%) showed nonbasaloid conventional squamous cell carcinoma histology (median TMB = 5.2 mut/Mb), and a single CYLD-mutant case showed transitional cell carcinoma-like histology. Within our cohort of ACs, CYLD mutations characterize a surprisingly large subset (13%), with distinct clinical and genomic features and, predominantly, a striking cylindroma-like histopathology, representing a genotype-phenotype correlation which may assist in classification of AC.

Back-to-basics of hemangiosarcoma of face and scalp: a case report

Introduction: Hemangiosarcoma is a rare vascular malignant neoplasm. Diagnosis is based on both clinical and histopathological features. Case Presentation: An 85-years-old white man presented with a 1-year history of progressive lesions on face and scalp. Physical examination revealed violaceous infiltrative plaques, with ulceration and bleeding, on the face and scalp, associated to numerous violaceous satellites papules. Histopathological examination revealed a neoplastic proliferation represented by slit-like anastomosing vascular channels that dissociated collagen fibers in the dermis, lined by atypical endothelium with moderately hyperchromatic and pleomorphic nuclei. Diagnostic conclusion was cutaneous angiosarcoma. Conclusions: Cutaneous angiosarcoma most often affects males (2:1), mostly Caucasian patients over 70 years old. It may originate from blood or lymphatic vessels. The most common form affects the face and scalp. There are varying degrees of cellular atypia, anastomosing slit-like channels, dissociation of collagen fibers, occasional hyaline globules and areas of hemorrhage. Immunohistochemistry confirmed blood vascular origin with diffuse positivity for CD34 and focally diffuse for factor VIII. We emphasize the need of clinicopathological correlation for early recognition and treatment.