Herein we evaluated a series of 21 embryonal rhabdomyosarcomas of the uterine corpus (ucERMS), a rare neoplasm, to characterize their morphology, genomics, and behavior. Patients ranged from 27 to 73 (median 52) years and tumors from 4 to 15 (median 9) cm, with extrauterine disease noted in two. Follow-up (median 16 months) was available for 14/21 patients; nine were alive and well, four died of disease, and one died from other causes. Most tumors (16/21) showed predominantly classic morphology, comprised of alternating hyper-and hypocellular areas of primitive small cells and differentiating rhabdomyoblasts in a loose myxoid/edematous stroma. A cambium layer was noted in all; seven had heterologous elements (six with fetal-type cartilage) and eight displayed focal anaplasia. The remaining five neoplasms showed only a minor component (< 20%) of classic morphology, with anaplasia noted in four and tumor cell necrosis in three.The most frequent mutations detected were in DICER1 (14/21), TP53 (7/20), PI3K/AKT/mTOR pathway (7/20), and KRAS/NRAS (5/20). Copy number alterations were present in 10/19 tumors. Overall, 8/14 DICER1-associated ucERMS showed concurrent loss of function and hotspot mutations in DICER1, which is a feature more likely to be seen in tumors associated with DICER1 syndrome. Germline data was available for two patients, both DICER1 wild-type (one with concurrent loss of function and hotspot alterations).DICER1-associated ucERMS were more likely to show a classic histological appearance including heterologous elements than DICER1-independent tumors. No differences in survival were noted between the two groups, but both patients with extrauterine disease at diagnosis and two with recurrences died from disease. As no patients had a known personal or family history of DICER1 syndrome, we favor most DICER1-associated ucERMS to be sporadic.
We report 3 cases of primary extraovarian unclassifiable malignant sex cord-stromal tumors. In all cases, the tumors involved the pelvis, peritoneum, and/or omentum and the morphologic features were essentially those of a poorly differentiated malignant neoplasm. A diagnosis of sex cord-stromal tumor was made on the basis of expression of several markers of ovarian sex cord-stromal tumors and exclusion of other neoplasms. In 1 case, an elevated serum testosterone was present at tumor progression. In reporting these cases, we draw attention to the problems in establishing a diagnosis that can be attributed to the extreme rarity of sex cord-stromal tumors in an extraovarian location and the rarity of unclassifiable malignant sex cord-stromal tumors in general, resulting in pathologists not considering this diagnosis. We review sex cord-stromal tumors occurring in an extraovarian location.
We report 2 ovarian serous cystadenofibromas with signet ring cells within the stromal component. The signet ring-stromal cells were widespread in 1 case and focal in the other. Immunohistochemically, they were negative with cytokeratin and other epithelial markers and positive with mesenchymal markers. The occurrence of signet ring-stromal cells in ovarian serous cystadenofibromas is an unusual pseudoneoplastic phenomenon, which has not been reported previously, although signet ring cells may occur within a variety of ovarian stromal neoplasms, including fibromas, sclerosing stromal tumors, and signet ring-stromal tumors. In reporting these cases, we review ovarian stromal neoplasms and other lesions with signet ring cells.
Both RCPath and CAP criteria to define CRM have similar prognostic value. A novel three-tier classification of CRM status provides more detailed prognostication.
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