Uterine Tumor Resembling Ovarian Sex Cord Tumor With Aggressive Histologic Features Harboring a GREB1-NCOA2 Fusion: Case Report With a Brief Review

Yin, Xiaolin; Wang, Min; He, Huiying; Ru, Guoqing; Zhao, Ming

doi:10.1097/pgp.0000000000000849

Cited by 10 publications

(5 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The mean tumor size was 5.4 cm, 1–15 which is quite similar to the 2 largest series (6.1 cm and 5.1 cm, respectively). As the largest cohort to date, the age of 7 GREB1::NCOA2 patients in our study was younger than 5 previously reported patients 7,8,11,13,40 (33 y–56 y, mean 48 y vs. 51 y–74 y, mean 60 y, P =0.049). Five GREB1 :: NCOA1 patients were significantly younger than the 6 reported cases (50 y vs. 68 y, P =0.001) 8,11,41 .…”

Section: Discussioncontrasting

confidence: 49%

Uterine Tumor Resembling Ovarian Sex Cord Tumors: 23 Cases Indicating Molecular Heterogeneity With Variable Biological Behavior

Yao

et al. 2023

American Journal of Surgical Pathology

View full text Add to dashboard Cite

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare mesenchymal neoplasm that mainly harbors NCOA1-3 rearrangements with partner genes ESR1 or GREB1. Here, we explored 23 UTROSCTs by targeted RNA sequencing. The association between molecular diversity and clinicopathologic features was investigated. The mean age of our cohort was 43 years (23–65 y). Only 15 patients (65%) were originally diagnosed with UTROSCTs. Mitotic figures ranged from 1 to 7/10 high power fields, of primary tumors and increased from 1 to 9/10 high power fields in recurrent tumors. Five types of gene fusions were identified in these patients, including GREB1::NCOA2 (n=7), GREB1::NCOA1 (n=5), ESR1::NCOA2 (n=3), ESR1::NCOA3 (n=7), and GTF2A1::NCOA2 (n=1). To our knowledge, our group included the largest cohort of tumors with GREB1::NCOA2 fusions. Recurrences were most common in patients with GREB1::NCOA2 fusion (57%), followed by 40% (GREB1::NCOA1), 33% (ESR1::NCOA2), and 14% (ESR1::NCOA3). The recurrent patient who harbored an ESR1::NCOA2 fusion was characterized by extensive rhabdoid features. Both of the recurrent patients who harbored GREB1::NCOA1 and ESR1::NCOA3 had the largest tumor sizes in their own gene alteration groups, and another recurrent GREB1::NCOA1 patient had extrauterine involvement. The GREB1-rearranged patients were of older age, larger tumor size, and higher stage than non-GREB1-rearranged patients (P=0.004, 0.028, and 0.016, respectively). In addition, the GREB1-rearranged tumors presented more commonly as intramural masses rather than non-GREB1-rearranged tumors presenting as polypoid/submucosal masses (P=0.021). Microscopically, nested and whorled patterns were frequently seen in GREB1-rearranged patients (P=0.006). Of note, estrogen receptor expression was weaker than progesterone receptor in all 12 GREB1-rearranged tumors, whereas the similar staining intensity of estrogen receptor and progesterone receptor was observed in all 11 non-GREB1-rearranged tumors (P<0.0001). This study demonstrated that UTROSCTs were present at a younger age in the Chinese population. The genetic heterogeneity of UTROSCTs was correlated with variable recurrence rate. Tumors with GREB1::NCOA2 fusions are more likely to recur compared with those with other genetic alterations.

show abstract

Section: Discussioncontrasting

confidence: 49%

Uterine Tumor Resembling Ovarian Sex Cord Tumors: 23 Cases Indicating Molecular Heterogeneity With Variable Biological Behavior

Yao

et al. 2023

American Journal of Surgical Pathology

View full text Add to dashboard Cite

show abstract

“…We assume that the future of UTROSCT diagnosis and treatment-including the decision to preserve the uterus or not-will be the molecular-genetic testing, as it has become common in other gynecologic malignancies, e.g., endometrial carcinoma [148,149]. This hypothesis is supported by numerous recent studies [86,105,109,[123][124][125][126][128][129][130][131][132] that identified factors associated with aggressive clinical behavior and recurrence. In UTROSCT, GREB1 or ESR1 often fuse with members of the p160 steroid receptor coactivator family, which includes NCOA1, NCOA2, and NCOA3.…”

Section: Discussionmentioning

confidence: 93%

“…Regarding prognosis, GREB1-rearranged tumors tended to occur in significantly older women than UTROSCT with ESR1 fusions; moreover, GREB1-rearranged tumors tended to be larger and more mitotically active and behave more aggressively [105]. Recently, Yin et al [86] described novel fusion genes involving ESR1 and GREB1 as the 5 ′ partner and NCOA1-3 as the 3 ′ partner. Genotype and phenotype correlation has suggested that GREB1-rearranged UTROSCTs may have a higher tendency to behave aggressively.…”

Section: Risk Factors and Prognostic Factorsmentioning

confidence: 99%

Uterine Tumors Resembling Ovarian Sex Cord Tumors (UTROSCTs): A Scoping Review of 511 Cases, Including 2 New Cases

Watrowski,

Palumbo,

Guerra

et al. 2024

Medicina

View full text Add to dashboard Cite

Uterine Tumors Resembling Ovarian Sex Cord Tumors (UTROSCTs) are rare uterine mesenchymal neoplasms with uncertain biological potential. These tumors, which affect both premenopausal and postmenopausal women, usually have a benign clinical course. Nevertheless, local recurrences and distant metastases have been described. By analyzing 511 cases retrieved from individual reports and cases series, we provide here the most comprehensive overview of UTROSCT cases available in the literature, supplemented by two new cases of UTROSCTs. Case 1 was an asymptomatic 31-year-old woman who underwent a laparoscopic resection of a presumed leiomyoma. Case 2 was a 58-year-old postmenopausal woman with abnormal vaginal bleeding who underwent an outpatient hysteroscopic biopsy of a suspicious endometrial area. In both cases, immunohistochemical positivity for Calretinin and Inhibin was noted, typical for a sex cord differentiation. In both cases, total laparoscopic hysterectomy with bilateral salpingo-oophorectomy was performed. In light of the available literature, no pathognomonic clinical or imaging finding can be attributed to UTROSCT. Patients usually present with abnormal uterine bleeding or pelvic discomfort, but 20% of them are asymptomatic. In most cases, a simple hysterectomy appears to be the appropriate treatment, but for women who wish to become pregnant, uterus-preserving approaches should be discussed after excluding risk factors. Age, tumor size, lymphovascular space invasion, nuclear atypia, and cervical involvement are not reliable prognostic factors in UTROSCT. The current research suggests that aggressive cases (with extrauterine spread or recurrence) can be identified based on a distinct genetic and immunohistochemical phenotype. For instance, UTROSCTs characterized by GREB1::NCOA1-3 fusions and PD-L1 molecule expression appear to be predisposed to more aggressive behaviors and recurrence, with GREB1::NCOA2 being the most common gene fusion in recurrent tumors. Hence, redefining the criteria for UTROSCTs may allow a better selection of women suitable for fertility-sparing treatments or requiring more aggressive treatments in the future.

show abstract

“…More recently, some molecular biology studies have revealed that UTROSCTs with GREB1::NCOA1-3 fusions [51,58] and PD-L1 molecule expression appear to be predisposed to more aggressive behavior and recurrences, GREB1::NCOA2 being the most common gene fusion in recurrent tumors [61]. As well as, recently Yin et al observed a case of UTROSC with aggressive histologic features harboring a GREB1-NCOA2 fusion, such as increased mitotic figures (up to 3/10 high power fields), geographic necrosis, and LVI [99].…”

Section: Discussionmentioning

confidence: 99%

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT): A Rare Polyphenotypic Neoplasm

Giordano,

Guareschi,

Thai

2024

Preprint

View full text Add to dashboard Cite

Uterine Tumor Resembling Ovarian Sex Cord Stromal Tumor (UTROSCT) is a rare uterine mesenchymal neoplasm, which resembles ovarian sex cord tumors of the ovary. Although, in general, UTROSCT exhibits benign behavior with a favorable prognosis, this neoplasm is nonetheless classified as being of an uncertain ma-lignant potential, given its low rate of recurrence and the fact that it rarely pro-duces metastases (lymph nodes, epiploic appendix, omentum, small bowel, subcutaneous, lungs). Its histogenesis too is uncertain. Typically, UTROSCT oc-curs in peri-menopausal or menopausal women but can sometimes be observed in young women. Usually, this neoplasm can be found in the uterine corpus as a nodular intramural lesion, less frequently submucosal, subserosal or poly-poid/intracavitary. UTROSCT can cause abnormal bleeding, pelvic pain, enlarged uterus, mass sensation, but sometimes it is found purely by chance. This neo-plasm can be considered polyphenotypic on morphological, immunohistochem-ical, and genetic analyses. Generally, on microscopic examination, UTROSCT shows a predominant pattern of the cords, nests, and trabeculae typical of sex cord tumors of the ovary while, immunohistochemically, it is characterized by a co-expression of epithelial, smooth muscle, and sex cord markers. The aim of this review is to report clinical and pathological data and genetic alterations to estab-lish its impact on the prognosis and management of patients affected by this rare entity.

show abstract

Uterine Tumor Resembling Ovarian Sex Cord Tumor With Aggressive Histologic Features Harboring a GREB1-NCOA2 Fusion: Case Report With a Brief Review

Cited by 10 publications

References 19 publications

Uterine Tumor Resembling Ovarian Sex Cord Tumors: 23 Cases Indicating Molecular Heterogeneity With Variable Biological Behavior

Uterine Tumor Resembling Ovarian Sex Cord Tumors: 23 Cases Indicating Molecular Heterogeneity With Variable Biological Behavior

Uterine Tumors Resembling Ovarian Sex Cord Tumors (UTROSCTs): A Scoping Review of 511 Cases, Including 2 New Cases

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT): A Rare Polyphenotypic Neoplasm

Contact Info

Product

Resources

About