Uterine Tumors Research Articles

Virtual reality education program for women with uterine tumors treated by high-intensity focused ultrasound

This study aimed to develop and determine the effects of a nursing education program using virtual reality (VR) for women with uterine tumors undergoing treatment with high-intensity focused ultrasound (HIFU). Various nursing education methods need to be developed alongside new treatment methods and their effects should be clinically verified. Nursing intervention using VR has recently been attempted. The study comprises a pre- and post-test design with a non-equivalent control group.We assigned 54 women to experimental (n = 26) and control (n = 28) groups. The patients were diagnosed with benign uterine tumors and were treated with HIFU at two women's hospitals in D city. Data collected from these hospitals were analyzed using descriptive statistics, a pre-test of homogeneity, independent t-tests, and repeated measures analysis of variance. In the experimental group, uncertainty (t = 4.26, p < 0.001) and anxiety (t = 4.09, p < 0.001) were significantly lower compared to the control group. However, nursing satisfaction was significantly higher in the experimental group than in the control group (t = −4.50, p < 0.001). The VR education program is an educational nursing intervention that reduces uncertainty and anxiety and improves nursing satisfaction among women with uterine tumors treated by HIFU. We suggest that future nursing research integrates and converges disciplines according to progressive treatment methods and technological advancements for patients.

SMARCA4 / BRG1 -deficient Uterine Neoplasm With Hybrid Adenosarcoma and Carcinoma Features: Expanding the Molecular-morphologic Spectrum of SMARCA4 -driven Gynecologic Malignancies.

SMARCA4 gene encodes BRG1 , a member of the SWItch/sucrose non-fermentable protein family involved in epigenetic transcriptional regulation of important cellular processes. In the uterine corpus, SMARCA4 / BRG1 deficiency is associated with a novel class of undifferentiated uterine sarcomas, characterized by younger age onset, rhabdoid histology, focal phyllodiform architecture, high-risk pathologic findings, and dismal prognosis. Herein, we report a case of a 34-year-old Asian woman with a SMARCA4 / BRG1 -deficient uterine tumor fulfilling the clinicopathologic features of an undifferentiated uterine sarcoma. However, the tumor exhibited several unique features that have not been previously emphasized, including (1) conspicuous phyllodiform architecture recapitulating conventional adenosarcoma, (2) rhabdoid tumor cells forming cords and keratin-positive cohesive epithelial islands, and (3) cooccurrence with a spatially distinct and discrete endometrial complex atypical hyperplasia from the rest of the proliferation. By immunohistochemistry, the tumor cells were diffusely positive for synaptophysin, whereas BRG1 was lost. Pertinent molecular findings included frameshift mutations in the SMARCA4 gene, mutations in histone modification and chromatin remodeling genes, including KMT2C , ARID1B , KAT6A , and NCOR1 , and mutations in Wnt signaling involving APC and CTNNB1 . Copy number gain in MDM2 and CDK4 were also identified. The tumor mutation burden was intermediate (6.8/MB) and it was microsatellite stable. On balance, our case exhibited morphologic and molecular features that overlap with (1) an undifferentiated uterine sarcoma, (2) an adenosarcoma with sarcomatous overgrowth, and (3) a mixed adenosarcoma and undifferentiated endometrial carcinoma. These hybrid features further expand the molecular-morphologic spectrum of SMARCA4 / BRG1 -deficient uterine neoplasms.

Uterine smooth muscle tumors: a multicenter, retrospective, comparative study of clinical and ultrasound features

ObjectiveTo evaluate a wide range of clinical and ultrasound characteristics of different uterine smooth muscle tumors to identify features capable of discriminating between these types.MethodsThis was a retrospective, multicenter study...

Small Animal Ovariohysterectomy and Avoidance of Associated Complications in Pet Practices Across Pakistan: A Current Perspective

Ovariohysterectomy (OVH) is a routine surgical procedure in small animal practices for sterilization and management of several uterine diseases, namely pyometra, cystic endometrial hyperplasia, uterine tumors, rupture, and torsion. Ovariohysterectomy (OVH) offers numerous clinical advantages, but post-operative complications could pose financial challenges for veterinarians due to the inherent risk of malpractice suits and clients owing to the extended recovery period for their pets. The authors reviewed about two dozen peer-reviewed English language articles from PubMed, Scopus, Web of Science, and Google Scholar databases to identify risks and avoidance strategies following OVH. These may include the ones arising from celiotomy (infection, incisional hernias, wound dehiscence, inadvertent injury to organs and adhesions) or affections, such as intraoperative hemorrhage, stump pyometra, ovarian remnant syndrome, ureteral ligation, urinary incontinence, granulomas, fistulous tracts, post-surgery weight gain, and eunuchoid syndrome. This review emphasizes prevention and management methods for each of these complications. Effective surgical techniques play a vital role in preventing hemorrhage, while meticulous resection, ligation, and omentalization of uterine stump reduce the risk of stump pyometra. Complete removal of ovarian tissue and systematic exploration prevent ovarian remnant syndrome. The use of advanced imaging methods, such as ultrasound, fluoroscopy, or CT scans, can greatly aid in identifying and preserving ureters during surgical procedures, thus minimizing the risk of ureteral complications. Strategies to address urinary incontinence, granulomas, and post-surgery weight gain might encompass the use of hormonal therapy involving estradiol analogs or the application of precise surgical techniques involving ureteral reimplantation. Innovative strategies such as auto-transplantation of ovaries are suggested for managing eunuchoid syndrome, while inadvertent prostatectomy and bowel obstruction may simply be avoided by better tissue handling and dissection. In summary, optimizing surgical protocols, incorporating CT scans, using appropriate drug therapies, and continuous education within the veterinary community are crucial for reducing complications associated with OVH.

Cavernous haemangioma and mid trimester pregnancy loss leading to severe haemorrhage and hysterectomy: a case report and review of literature.

Cavernous haemangiomas are benign vascular tumours that are known to occasionally involve the female genital tract, including the uterus. They are often underdiagnosed during pregnancy, although they can also lead to severe postpartum or antepartum haemorrhage. Describe our case of an uncommon second-trimester pregnancy loss in a woman with a diffuse cavernous haemangioma of the uterus and cervix and review the wider literature. The review was conducted using MEDLINE, Scopus and PubMed electronic databases from beginning of the database to May 2023, using the following keywords: arteriovenous malformation; cavernous haemangioma/hemangioma; uterine neoplasms; pregnancy complications; abnormal vaginal bleeding. Description of the characteristics of cavernous haemangioma during pregnancy as well as diagnostic criteria and treatment options. Twenty publications were included in the review, which included English-language case reports over a period from 1959 to 2022. No pathognomonic symptoms for cavernous haemangioma of the uterus in a pregnant woman were noted. Complications including massive secondary postpartum haemorrhage, haemoperitoneum, and severe thrombocytopenia with anaemia after delivery were reported. Diagnosis and management during pregnancy can be challenging and requires considerable attention, with a multidisciplinary approach including gynaecologists, radiologists, and pathologists to avoid major complications. An additional case of diffuse cavernous haemangioma of the uterus and cervix is described, that adds to the little existing literature.

Uterine Inflammatory Myofibroblastic Tumor with ALK Polysomy: Challenging Case Report and Review of Literature

Abstract Introduction/Objective Inflammatory myofibroblastic tumor (IMT) is a distinct neoplastic process with specific molecular alterations. Given its low likelihood of local recurrence and metastasis, it is currently regarded as a neoplasm with intermediate biological potential. IMTs of the uterus variably express CD10 and smooth muscle markers, which present a diagnostic challenge and make it difficult to distinguish from mesenchymal neoplasms of smooth muscle and endometrial stromal origin. Methods/Case Report We present a case of a 46-year-old woman who underwent a hysterectomy due to abnormal menstrual bleeding. Grossly, a 5.0 cm tan, firm, well-circumscribed subendometrial nodule was identified at the fundus, which had a fleshy, soft-cut surface with no hemorrhage or necrosis. Microscopically, the nodule is composed of somewhat tightly packed spindle cells arranged in a fascicular pattern, with little-to-no myxoid stroma and dense lymphoplasmacytic infiltrate forming scattered aggregates. Immunohistochemical stains show lesional spindle cells are positive for SMA, desmin, and vimentin with patchy staining for ER while negative for S100, CD10, ALK-1, STAT6, and CD34. CD68 highlights scattered histiocytes in the background. Ki-67 highlights background lymphoid cells. RNA next-generation sequencing detected no fusions involving ROS1, PDGFR-β, or ETV6, which were previously described in a subset of ALK-negative IMTs. The FISH assay did not reveal rearrangements of the ALK or ROS1. However, extra intact ALK fusion signals were observed, suggesting polysomy for the ALK region. Results (if a Case Study enter NA) NA Conclusion To our knowledge, this is the first report of a uterine IMT with ALK polysomy. The significance of additional ALK copies in our case is not clear but highlights the need for further molecular studies investigating genetic alterations in ALK-negative IMTs. Detecting these rearrangements may be of diagnostic value and help guide future targeted therapies.

Two Cases of Mixed Mullerian Adenosarcoma and Endometrioid Adenocarcinoma of the Uterus

Abstract Introduction/Objective Endometrioid adenocarcinoma (EA) arising in close spatial association with Mullerian adenosarcoma (MA) is a recently described entity that should be distinguished from carcinosarcoma. Methods/Case Report We describe two cases of mixed MA and EA of the uterus that presented in our institution in the last 10 years. Both patients were in their 8th decade, showed low grade EA, low stage uterine tumor (pT1bN0), with MA with sarcomatous overgrowth. Clinically, they presented with post-menopausal bleeding and both with history of a first degree relative with colon cancer at the age of 41 and 25, respectively. In case 1, the MA measured 13 cm with rhabdomyosarcoma. Case 2 had a 6 cm polypoid mass protruding from the cervical os. In case 1, the patient had laparoscopic total abdominal hysterectomy with bilateral salpingoophorectomy (TAH-BSO) and bilateral sentinel node biopsies. The patient was disease-free for 6 months, after which she presented with abdominal recurrence by CT scan. She was treated with chemotherapy (Adriamycin and Doxorubicin) but passed away 15 months after surgery. Case 2 presented recently and has been asymptomatic and disease free 2 months after laparoscopic TAH-BSO and bilateral sentinel node biopsies. Both cases showed preservation of DNA mismatch repair protein expression. Results (if a Case Study enter NA) NA Conclusion Twenty two out of 23 cases of this entity were described in the largest series by Hallani et al in the literature. It was suggested that the prognosis of these “mixed” tumors appears to be driven by the sarcomatous component, with only 2 deaths in the series due to MA with rhabdomyosarcoma or sarcomatous overgrowth. When MA with sarcomatous overgrowth was compared with carcinosarcoma by Krivak et al., MA with sarcomatous overgrowth had worse prognosis than carcinosarcoma. More cases of mixed MA and EA are needed for us to determine whether MA with sarcomatous overgrowth in this entity should be treated differently.

Highly malignant endometrial stromal sarcoma in a cat

An 11-year-old female Persian cat underwent ovariohysterectomy due to dilation of the uterine cavity with irregular thickening of the wall. Macroscopically, the middle and distal regions of the left uterine horn were swollen and the uterine wall was irregularly thickened due to the development of multiple coalescent, variably sized nodules. Microscopically, the nodules had originated in the endometrium and were composed of round to polygonal neoplastic cells arranged in dense sheets or ill-defined fascicles. The neoplastic cells had locally invaded the myometrium and reached the subserosa, with lymphovascular invasion. Immunohistochemically, the neoplastic cell population was partially positive for CD10, an established marker of endometrial stromal sarcoma (ESS) in humans, with focal and diffuse nuclear immunopositivity for oestrogen and progesterone receptors and immunonegativity for desmin and α-smooth muscle actin. Based on these findings, the uterine tumour was diagnosed as ESS and was considered to correspond morphologically to high-grade ESS in humans.

Investigating the influence of primary uterine tumor site on pelvic and para-aortic lymph node metastatic pattern and evaluating the risk factors for lymph node metastases in endometrial carcinoma: A retrospective study.

To assess the metastatic pattern in pelvic and para-aortic lymph nodes in relation with the primary uterine tumor site and to evaluate risk factors for lymph node metastases. 212 patients with endometrial cancer who underwent surgical treatment from December 2014 to December 2019 were selected. The clinical and pathological data were retrospectively analyzed. The factors and uterine primary tumor site related to lymph node metastasis were analyzed by univariate and multivariate analysis. Among the 212 patients with endometrial cancer, 17 cases had lymph node metastasis, and thus the metastasis rate was 8.02%. Univariate analysis revealed that lymph node metastasis was significantly correlated with Federation of Gynecology and Obstetrics stage, depth of myometrial invasion, tumor size, pathological grade, and lymphovascular space invasion (P < .05) and was not correlated with age, pathological type, and cervical involvement (P > .05). Primary uterine tumor site (fundus, horns, body or lower uterine segment) with or without cervical involvement was associated with different lymph nodes' metastatic sites. The lymph node metastatic pathways of endometrial cancer mainly include obturator lymph nodes and para-aortic lymph nodes, and skip metastasis may occur; endometrial carcinoma may jump and metastasize to para-aortic lymph nodes, specially when the lesion is located in the uterine fundus and uterine horns (cornua of uterus); there is a significant correlation between the location of lymph node metastasis and the location of primary uterine malignant tumor.

Clinicopathological features and molecular genetic changes in 17 cases of uterine tumor resembling ovarian sex cord tumor

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare mesenchymal neoplasm that was recently reported to exhibit recurrent NCOA1-3rearrangement with the most frequent partners ESR1 and GREB1. In this study, the clinicopathological characteristics of 17 UTROSCT cases were summarized; among them, the fusion genes of 12 cases were retrospectively analyzed by targeted RNA sequencing. The mean age of our cohort was 47 years (19–67 y). Although the majority of UTROSCTs had clear boundaries on gross examination, microscopic infiltration into the myometrium was observed in 82.4 % of cases. The tumor cells showed diffuse, trabecular, nested, reticular, pseudopapillary, hollow and solid tubular patterns, expressing sex cord, epithelial, and myogenic markers. Six fusion genes, including ESR1::NCOA3 (n = 4), ESR1::NCOA2 (n = 2), ESR1::CITED2 (n = 2), GREB1::NCOA2 (n = 2), GREB1::NCOA1 (n = 1), and GREB1::NCOA3 (n = 1), were identified. The fusion genes of the three cases with recurrence and metastasis were GREB1::NCOA2, ESR1::NCOA3, and ESR1::CITED2. All 3 cases of recurrent tumors showed infiltrative growth, with moderate to severe dysplasia of tumor cells and different degrees of rhabdomyoid differentiation. This is the first report of the ESR1::CITED2 fusion genes in UTROSCT, and one of the two patients had recurrence and metastasis. Compared with UTROSCT withESR1 rearrangement, UTROSCT with GREB1 rearrangement was more common in elderly patientsand was more likely to present with intramural masses, less sex cord differentiation, poor prognosis, and relapse and metastasis.

Uterine Tumours Resembling Ovarian Sex-Cord Tumors: A Case Report and Review of the Literature.

Uterine tumors resembling ovarian sex-cord tumors (UTROSCT) are thought to develop from pluripotent uterine mesenchymal cells or endometrial stromal cells with secondary sex-cord differentiation. The patient was a 73-year-old postmenopausal woman who had abnormal vaginal bleeding, and she underwent a laparoscopic hysterectomy with bilateral salpingo-oophorectomy. The diagnosis was a case of UTROSCT. A scoping review of the UTROSCT case report present in the literature has been conducted, and 63 articles were found, of which 45 were considered for the 66 clinical cases examined. At the time of diagnosis, six metastatic localizations were found in 59 patients undergoing demolitive surgery (10.2%). Recurrences were diagnosed in 13/59 (22%) patients with multiple locations. A molecular study was performed in 18/66 cases (27.3%) and genetic alterations were found in 10/18 (55.6%) patients. UTROSCTs are considered rare uterine tumors, typically with a favorable prognosis, and are generally considered to have a good prognosis. But, from the review done, they may already manifest themselves at advanced stages, with the possibility of recurrences even at a distance. It would, therefore, be important to be able to define the most aggressive forms and, perhaps, molecular investigation with sequencing could help identify patients most at risk.

Exploring uterine fibroids and its treatment in current scenario

Uterine Fibroids (leiomyoma) are made of muscle cells and other grow tissues grow in and around of the wall of the uterus. Uterine fibroids benign tumors in women reproduction age worldwide. Many are discovered incidentally on clinically examination. Approximately 30% of women with uterine fibroids will present with severe symptoms, which can include abdominal uterine bleeding, anemia, pelvic pain and constipation. Infertility and recurrent miscarriage may also be symptoms of fibroids, depending on their location and size, especially for sub mucous and intramural myelomas distorting the uterine cavity. Current option for symptomatic fibroid treatment includes expectant medical and surgical management radiology procedures. Ultrasound can be done, when a patient is symptomatic of uterine fibroids. Fibroids are generally classified by their location; intramural fibroids, subserosal fibroids, submucosal fibroids. The cause of uterine fibroids is unknown, But research and clinical experience proposes that genetics, hormonal imbalance, other growth factor and extracellular matrix accumulation could be the contributing factors .Although uterine fibroids are usually not dangerous, they can cause discomfort and lead to complication such as, drop in red blood cell (anemia) which causes fatigue from heavy bleeding. Our aim is to highlight the new treatments and advancements in treating uterine fibroids. Later we have also highlighted the future advancements and innovations that are used in developed countries for same.

A nematode model to evaluate microdeletion phenotype expression.

Microdeletion syndromes are genetic diseases caused by multilocus chromosomal deletions too small to be detected by karyotyping. They are typified by complex pleiotropic developmental phenotypes that depend both on the extent of the deletion and variations in genetic background. Microdeletion alleles cause a wide array of consequences involving multiple pathways. How simultaneous haploinsufficiency of numerous adjacent genes leads to complex and variable pleiotropic phenotypes is not well understood. CRISPR/Cas9 genome editing has been shown to induce microdeletion-like alleles at a meaningful rate. Here, we describe a microdeletion allele in Caenorhabditis elegans recovered during a CRISPR/Cas9 genome editing experiment. We mapped the allele to chromosome V, balanced it with a reciprocal translocation crossover suppressor, and precisely defined the breakpoint junction. The allele simultaneously removes 32 protein-coding genes, yet animals homozygous for this mutation are viable as adults. Homozygous animals display a complex phenotype including maternal effect lethality, producing polynucleated embryos that grow into uterine tumors, vulva morphogenesis defects, body wall distensions, uncoordinated movement, and a shortened life span typified by death by bursting. Our work provides an opportunity to explore the complexity and penetrance of microdeletion phenotypes in a simple genetic model system.

Changes in Pelvic Floor Symptoms After Procedural Interventions for Uterine Leiomyomas, A Systematic Review

(Abstracted from Obstet Gynecol 2023;142:319–329) Uterine leiomyomas are the most prevalent benign uterine tumors with a cumulative incidence of 70% to 80% by age 50 years. Up to 70% of women with leiomyomas are asymptomatic and require no treatment, but among symptomatic women, heavy or prolonged menstrual bleeding, bulk-related symptoms, dysmenorrhea, sexual dysfunction, and adverse pregnancy outcomes are common.

Dedifferentiated Endometrial Carcinoma: A Rare Aggressive Neoplasm-Clinical, Morphological and Immunohistochemical Features

Dedifferentiated endometrioid adenocarcinoma is characterised by the coexistence of an undifferentiated carcinoma and a low-grade endometrioid adenocarcinoma. The low-grade component in this subtype of endometrial carcinoma is Grade 1 or 2 according to the Federation of Gynaecology and Obstetrics (FIGO) grading system. The coexistence of low-grade endometrial carcinoma and solid undifferentiated carcinoma can cause diagnostic problems on histological examination. In fact, this combination can often be mistaken for a more common Grade 2 or Grade 3 endometrial carcinoma. Therefore, this subtype of uterine carcinoma can often go under-recognised. An accurate diagnosis of dedifferentiated endometrial carcinoma is mandatory because of its poorer prognosis compared to Grade 3 endometrial carcinoma, with a solid undifferentiated component that can amount to as much as 20% of the entire tumour. The aim of this review is to provide clinical, immunohistochemical, and molecular data to aid with making an accurate histological diagnosis and to establish whether there are any findings which could have an impact on the prognosis or therapeutic implications of this rare and aggressive uterine neoplasm.

Uterine giant cell tumor of soft tissue: A case report.

Giant cell tumor of soft tissue (GCT-ST) is a rare primary soft tissue tumor. GCT-ST mainly occurs in the trunk and extremities. There is no standard treatment for GCT-ST. This paper reports a rare case of primary uterine GCT-ST. A 48-year-old female patient underwent a transabdominal subhysterectomy for uterine leiomyoma. Postoperative pathological examination showed GCT-ST with unclear tissue boundary (10.0 × 6.0 × 5.0 cm). A small amount of GCT-ST tissue could be seen on the local edge of the leiomyoma. Residual tumor tissue was found around the uterine cavity. The patient reported persistent lower abdominal distension pain 3 months after the operation. Pelvic and abdominal imaging showed a huge tumor and multiple pelvic and abdominal organ metastasis. No pulmonary metastasis was found. Exploratory surgery revealed widespread metastases in the abdominal and peritoneal cavities, involving both ovaries, right tubal serous membrane, appendix serous membrane, bladder, pelvic peritoneum, and abdominal wall incision. After surgery, the patient had 6 cycles of docetaxel and carboplatin but stopped treatments due to economic reasons. The patient died 3 months later because of multiple organs failure. GCT-ST is generally benign but has unpredictable behavior. A massive recurrence with wide invasion is possible after subtotal resection.

Detection of a status of microsatellite instability in tumors of patients with endometrioid adenocarcinoma of the ovaries and/or of uterine corpus

Introduction. Multiple primary malignant neoplasms of female reproductive organs are a rare pathology. However, over the past decades, there has been an upsurge of interest in the study of this phenomenon in oncology. This is particularly the case for the diagnosis of synchronous endometrioid adenocarcinoma of the ovaries and uterine corpus, which histogenetically belong to the same germ layer and have similar histological structure. Until recently, clinicians relied only on morphological examination in these cases, but with the development of molecular genetic technologies, new diagnostic possibilities have emerged.Aim. Is the detection of the status of microsatellite instability in tumors of patients with endometrioid adenocarcinoma of the ovaries and/or uterine corpus.Materials and Methods. A pilot retrospective molecular genetic study (n = 48) was conducted to determine the status of microsatellite instability (MSI) in the tumors of the ovaries and/or uterine corpus: it involved 33 patients with solitary endometrioid ovarian cancer and 15 patients with synchronous endometrioid adenocarcinoma of the ovaries and uterine corpus. Microsatellite instability status was detected using PCR method with subsequent fragment analysis performed on ABI PRISM 3500 genetic analyzer (8 capillaries, Applied Biosystems). DNA was isolated from paraffin blocks of surgical specimens using DNAsorb B extraction kit (AmpliSens, Russia), according to the manufacturer’s manual. DNA concentration was estimated fluorometrically using Qubit 2.0 (Life Technologies, USA). The obtained data were analyzed using GeneMapper program (Thermo Fisher, USA). In case of polymorphism of two and more markers high-level microsatellite instability (MSI-H) was observed.Results. The incidence of MSI-H in solitary endometrioid ovarian cancer (n = 33) was 12,1 % (4 cases), while in synchronous ovarian and uterine corpus tumors (n = 15) MSI-H incidence made up 20 % (n = 3). Herewith, there have been only cases of a combination of endometrioid histotypes of ovarian and endometrial cancer with identical status of microsatellite instability. Thus, the incidence of MSI-H in synchronous endometrioid adenocarcinoma of the ovaries and uterine corpus (20 %) is comparable to that in solitary endometrial cancer.Conclusion. Our pilot study became a significant complement to the previously published materials, as it allowed to confirm the clonal origin of tumors in patients with endometrioid adenocarcinoma of the ovaries and uterine corpus, that can affect the stratification of treatment strategy for this category of patients.

Hyaline and Cystic Degeneration of Uterine Leiomyomas: CT and MR Imaging with Histopathological Sample Analyses.

Leiomyomas are the most common solid benign uterine neoplasms; they are usually asymptomatic and are identified incidentally. Yet, responsive to stimulation by estrogens, leiomyomas may expand, potentially outgrowing their blood supply to undergo hemorrhage, fibrosis, calcification, and atrophy. These pathologic mechanisms commonly lead to leiomyomas degeneration, i.e., red, hyaline, cystic, or myxoid. Magnetic resonance (MR) imaging is the most accurate imaging technique for the characterization of leiomyomas. In cases of degeneration, variable features on T2-weighted and contrast-enhanced images can be found. With no recent radiologic pathologic correlation literature available on this matter, herewith, we provide computed tomography (CT)/MR imaging along with histopathological specimens of two young women who were diagnosed with hyaline or hyaline and cyst degeneration of uterine leiomyomas at our university hospital. We report on the imaging features of uterine leiomyomas using CT and MR imaging and discuss the available literature on imaging signs that may be suggestive of hyaline or cyst degeneration using either of the imaging examination methods.

The efficacy of medical management of leiomyoma-associated heavy menstrual bleeding: a mini review

Leiomyomas, or fibroids, are benign uterine tumors that are commonly associated with abnormal uterine bleeding-L particularly heavy menstrual bleeding (HMB). Treatment options include expectant, medical, image-guided, and surgical. Medical management of HMB is the preferred first-line treatment and includes nonsteroidal anti-inflammatory drugs, contraceptive hormones, tranexamic acid, levonorgestrel intrauterine system, gonadotropin-releasing hormone (GnRH) antagonists and antagonists, selective progesterone receptor modulators, selective estrogen receptor modulators, and aromatase inhibitors. Although alternatives such as vitamins and supplements have been suggested, there is currently a lack of robust evidence of their efficacy. Many of these therapies treat the symptoms rather than the underlying pathology. Progestin-based therapies are the most commonly utilized, although research supporting their effectiveness in the treatment of HMB is modest. Although GnRH agonists and antagonists, which are federal drug administration-approved therapies, provide substantial improvement in abnormal uterine bleeding-L with HMB, the effects typically last for the duration of therapy. Patients may also face financial barriers to GnRH analog therapy. Future studies are required to delineate the nonhormonal treatment options and the long-term management of leiomyoma-associated HMB.

FRI686 Phenotypic Profiling And Molecular Mechanisms In Hyperparathyroidism-jaw Tumor Syndrome

Abstract Disclosure: R. Tora: None. J. Welch: None. J. Sun: None. S.K. Agarwal: None. D.A. Bell: None. M. Merino: None. L.S. Weinstein: None. W.F. Simonds: None. S. Jha: None. Background: Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome is a heritable form of primary hyperparathyroidism (PHPT) that is associated with tumors in the parathyroid, jaw, kidney, and uterus. We previously presented on the clinical characteristics of primary hyperparathyroidism in our cohort. Methods: We now expand on the report through review of uterine tumors, immunohistochemical staining for parafibromin, sequencing of parathyroid and kidney tumor tissue, and RNA-seq of parathyroid tumors. Results: We identified 68 patients (36 males, 32 females) from 29 kindreds with HPT-JT with median age at last follow-up of 39 [29-53] years. Of these, 7 patients were unaffected (2 males, 5 females). Among females, 12/32 (38%) developed uterine tumors with multiple adenomyomatous polyps, an unusual form of endometrial polyps seen in 10/24 tumors (42%). Given that these types of lesions are very rare in the general population, it is likely that such epithelial-mesenchymal uterine proliferations are a characteristic feature of HPT-JT syndrome.Solid kidney tumors were seen in 4/61 patients (7%). Three had surgery for the tumors - 2/3 were female and had mixed epithelial stromal tumor, while the third patient, a 6-year old male, had metastatic Wilm’s tumor as his initial disease-related manifestation. Among these, two had a germline CDC73 variant at the p.M1 residue while the third patient had the germline variant p.L95P; however, sequencing of his tumor tissue showed a “second hit” at the p.M1 residue resulting in loss of heterozygosity in the tumor. The fourth patient, a female with p.Y55S variant, is being conservatively managed with no kidney surgery yet. All three women with kidney tumors also had a history of uterine tumors. Parafibromin staining of 19 available CDC73 related parathyroid tumors (13 adenomas and 6 carcinoma) did not correlate with histology or genotype. Pathway analysis of 21 parathyroid tumors (8 HPT-JT-related adenomas, 6 HPT-JT-related carcinomas and 7 sporadic parathyroid carcinoma with wild-type CDC73) showed a significant association of HPT-JT-related parathyroid carcinoma with growth, transmembrane receptor protein tyrosine kinase signaling and mesodermal commitment pathways. Conclusion: Multiple, recurrent atypical adenomyomatous uterine polyps appear to be characteristic of HPT-JT syndrome. Our findings support germline testing at a young age in first-degree relatives of patients with HPT-JT given onset of manifestations as early as 6 years. Variants at M1 residue appear to predispose to genitourinary tumors. At present, there are no therapeutic approaches to compensate for CDC73 inactivation. Future research to identify standards of care and therapeutics targets are warranted for this rare disease. Presentation: Friday, June 16, 2023