Evaluation of molecular analysis in challenging ovarian sex cord-stromal tumours: a review of 50 cases.

Molecular profiling was performed in 50 problematic ovarian sex cord-stromal tumours (SCSTs) most of which were seen in consultation. Following analysis, 17 were classified as adult granulosa cell tumour (AGCT), 16 of which showed a FOXL2 sequence variant (mutation); the initial favoured diagnosis in five of the cases was benign thecoma/fibrothecoma. Thirteen tumours ultimately classified as cellular fibroma or thecoma were FOXL2 sequence variant negative which was helpful in excluding AGCT. All six Sertoli-Leydig cell tumours (SLCTs) demonstrated DICER1 'hot spot' sequence variants, and one case each of AGCT and SLCT showed high grade histological transformation associated with a concurrent TP53 sequence variant. All eight unclassified SCSTs were negative for FOXL2 mutations and the six tested cases were DICER1 wild type; however, three tumours demonstrated MET, CTNNB1 or TP53 sequence variants. Four cases were classified as juvenile granulosa cell tumour, and one of these harboured a GNAS sequence variant. The single gynandroblastoma and microcystic stromal tumours in the series demonstrated FOXL2 and CTNNB1 alterations, respectively. In summary, molecular analysis aids in accurate classification of challenging ovarian SCSTs and sometimes leads to revision of the favoured provisional diagnosis. TP53 sequence variants may be associated with dedifferentiation in both SLCTs and AGCTs.

The pathogenesis of ovarian myxoma: a neoplasm sometimes arising from other ovarian stromal tumors.

Ovarian myxoma is a rare distinctive benign ovarian stromal neoplasm that occurs predominantly in young women and is hormonally inactive. Although typically classified as an ovarian stromal tumor, its exact pathogenesis remains uncertain. We report 4 cases of ovarian myxoma, 3 of which were associated with another type or other types of ovarian stromal tumor and 1 occurred as a pure myxoma. In 2 cases, the myxoma arose from a sclerosing stromal tumor, and the third, most likely arose from a luteinized theca cell tumor (LTCT). Myxoid transformation of the connective tissue of the parent neoplasm appears to be a precursor of ovarian myxoma in some instances. We believe that the occurrence of trisomy 12 or other genetic abnormalities may play a role in this transformation. Whether or not associated with another type of ovarian stromal tumor, ovarian myxoma can be suspected macroscopically by its cystic gelatinous appearance and sharp circumscription. The most important differential diagnosis is a low-grade sarcoma with myxomatous features. We believe that myxomas arising from different anatomic sites likely are genetically, histologically, and biologically distinct. For purposes of classification, they should be considered as separate tumor types.

[Comparision of sonographic findings and pathological features in ovarian thecoma].

OBJECTIVE: To compare the sonographic findings with pathological features of ovarian thecoma, and to analyze the relationship between them. METHODS: The sonograms of 45 ovarian thecoma cases were reviewed retrospectively and categorized into three subtypes as sound attenuation pattern, homogeneous hypoechoic pattern and solid and cystic mixed pattern. The pathological findings were classified as theca cell-predominant, fibroblast-predominant and mixed thecoma according to the cellular composition of the tumors. Hyaline degeneration and luteinization of the tumors were recorded. The pathologic findings of each subtype based on sonography were compared. RESULTS: Of the 45 patients, there were 34 (75.6%) solid ovarian lesions, 15 (33.3%) of those showed a sound-attenuation pattern with an anterior hypoechoic zone and posterior acoustic attenuation in sonography, the other 19 (42.2%) cases had homogeneous hypoechoic pattern with no posterior acoustic attenuation, and the remaining 11 (24.4%) cases presented as a solid and cystic mixed pattern. There were no significant differences in pathological cellular composition among the three sonographic subtypes. Five solid tumors containing hyaline degeneration and one with luteinization were found to have posterior acoustic attenuation. The solid and cystic mixed thecomas showed cystic degeneration and hemorrhage. CONCLUSION: Solid ovarian thecomas usually have typical sonographic features, which may be associated with degeneration but not with cellular composition within the tumor.

Recent advances in the pathology and classification of ovarian sex cord-stromal tumors.

In recent years, our knowledge of ovarian sex cord-stromal tumors has increased, and their classification has evolved. In this review, recent advances in the classification and pathology of ovarian sex cord-stromal tumors are discussed, and the controversy regarding the classification of sex cord tumor with annular tubules is addressed. The current classification is built on those of the past, and future classifications should improve on what is now in place incorporating new knowledge from more sophisticated clinicopathologic studies and advanced molecular techniques. This review emphasizes articles written in the 21st century as well as those that have significantly advanced our knowledge of sex cord-stromal tumors in past decades. The tumors in this group occur over a wide age range and are often unilateral. In difficult cases, immunocytochemistry provides improved diagnostic accuracy. The most useful immunohistochemical marker for their identification is alpha-inhibin, which is positive in most neoplasms in the sex cord-stromal group. The article concludes with a section discussing the pathogenesis of sex cord-stromal tumors.

Calcified thecomas in young women. A report of four cases.

Four young women, all of whom were less than 30 years of age and had a variety of menstrual irregularities, had ovarian thecomas that were remarkable because of the presence of extensive calcification. The calcification was visible on x-ray examination of the abdomen in one case and was appreciated grossly in all four. Microscopic examination revealed that the calcification was the most striking microscopic feature in all the cases; in one case it was psammomatous. One tumor also exhibited extensive adipose metaplasia. Only two other extensively calcified thecomas have been reported in detail in the literature; one of them also occurred in a young woman. Extensively calcified thecomas appear to occur in younger women more often than thecomas that are not calcified or minimally calcified, and enter into the differential diagnosis in a patient with adnexal calcification on x-ray examination of the abdomen.