Retroperitoneal Leiomyosarcoma Research Articles

Leiomyosarcoma of the abdomen and retroperitoneum; a systematic review.

Intraabdominal and retroperitoneal leiomyosarcomas are rare cancers, which cause significant morbidity and mortality. Symptoms, treatment and follow up differs from other cancers, and proper diagnosis and treatment of intraabdominal and retroperitoneal leiomyosarcomas is of utmost importance. We performed a systematic review to collect and summarize available evidence for diagnosis and treatment for these tumours. We performed a systematic literature search of Pubmed from the earliest entry possible, until January 2021. Our search phrase was (((((colon) OR (rectum)) OR (intestine)) OR (abdomen)) OR (retroperitoneum)) AND (leiomyosarcoma). All hits were evaluated by two of the authors. Our predefined search identified 1983 hits, we selected 218 hits and retrieved full-text copies of these. 144 studies were included in the review. This review summarizes the current knowledge and evidence on non-uterine abdominal and retroperitoneal leiomyosarcomas. The review has revealed a lack of high-quality evidence, and randomized clinical trials. There is a great need for more substantial and high-quality research in the area of leiomyosarcomas of the abdomen and retroperitoneum. PROSPERO, identifier, CRD42023480527.

Retroperitoneal leiomyosarcoma; Demographics, clinicopathological, survival analysis, role of adjuvant radiation and genomic analysis.

e23327 Background: Retroperitoneal leiomyosarcoma (RPL) is an exceedingly rare malignancy and is the second most common subtype of leiomyosarcomas. Most of the information concerning this rare disease is limited to case studies and few literature studies. The study's objectives were to assess the demographics, pathological factors, survival outcomes, genomic landscape and potential for targeted therapy. Methods: Data of retroperitoneal leiomyosarcoma were obtained from the Surveillance, Epidemiology, and End Results (SEER) database, with cases diagnosed between 2000 and 2020 used for this study and the Cancer Genome Atlas containing sequencing information for 27 cases of RPL. Results: A total of 1406 cases were extracted with mean age of diagnosis of 62.1 years. Of these, RPL had a higher incidence in women (71.5%), more cases affected Whites (58.7%). Histologically, in patients with known grading, most patients’ i.e. 62.35% were grade 3, G3 (poorly differentiated). Nearly all (99.9%) patients presented with a tumor size ≥4.1 cm. Local lymph nodes metastasis were positive in 76.0% of cases when lymph node status was reported. In known cases of distant metastases, the most common site was liver (8.9%). The main treatment modality was surgery only (26.7%, hazard ratio, HR 1.17, p-value < 0.001), followed by the standard of care (surgery and radiation) (18.4%, HR 1.03, p-value < 0.001), and radiation only (18.4%). Five-year overall survival was 40% and 5-year cause-specific survival was 64%. The highest 5-year survival was observed in patients undergoing surgery and radiation (57%), and in combination therapy (chemotherapy, surgery, and radiation) the 5-year survival was 39%. Genetic analysis found the most common mutations included TP53 (51.9%), RB1 (25.9%), and ATRX (14.8%). When accounting for deep deletions and rearrangements, total frequency of the alterations was higher such that TP53 (63.0%), RB1 (51.9%), and ATRX (18.5%). Potentially actionable alterations were rare but included activating alterations in FGFR1, PIK3CA and ESR1, as well as deep deletions of BRCA1. Conclusions: Retroperitoneal leiomyosarcoma is a very rare tumor where surgery and radiation has been the conventional therapy. Our study indicates there are genetic alterations in the majority of retroperitoneal leiomyosarcoma. To further understand the pathogenesis and survival factors, patients with RPL should be enrolled into national and international registries.

Association of mutational status with metastatic pattern, race, ethnicity, and overall survival (OS) in leiomyosarcoma (LMS).

e23553 Background: LMS, one of the most common soft tissue sarcomas, can arise from the uterus, retroperitoneum, vessels, or extremities. It is unclear if the metastatic pattern and potentially the mutational status differs among the different types of LMS. We investigated the association between sites of metastases, mutations, race, ethnicity, and OS in different LMS types. Methods: This single-center retrospective study evaluated patients with biopsy-proven LMS that underwent genomic testing between January 2009 and May 2023. Association between genomic profile, sites of metastases, types of LMS (extremity, retroperitoneal, uterine, vascular), self-reported race and ethnicity was performed using Fisher’s exact test. Survival curves for self-reported race and ethnicity, mutations, sites of metastases, and types of LMS were estimated using the Kaplan-Meier method and compared with a log-rank test. Cox proportional hazard regression models were used to examine the association between OS with types of LMS, self-reported race and ethnicity, mutational status, and sites of metastases. Results: The study included 110 subjects (F/M:81/29; median age 57 years, 99/110 with metastatic disease). 27/110 (25%) subjects self-reported as Hispanic, and 27/110 (25%) as Black. The most common type of LMS was uterine (50/110, 45%), followed by retroperitoneal (27/110, 25%), extremities (23/110, 21%) and vascular (10/110, 9%). The most common mutation was TP53 (74/110, 67%), followed by RB1 (24/110, 22%). ER/PR expression was present in 25/110 subjects (23%). The lungs were the most common site of metastasis (79/99, 80%), followed by the liver (37/99, 37%), and pelvis (29/99, 29%). Peritoneal and pelvic metastases were more common in uterine LMS (p = 0.0001 and 0.002, respectively). Liver metastases were more common in retroperitoneal LMS (p = 0.03). TP53 mutation was more common in vascular LMS (p = 0.03), whereas intermediate/high tumor burden was more common in LMS arising from the extremities (p = 0.004). BRCA1/2 mutations were more common in subjects with liver (p = 0.02) and intramuscular metastases (p = 0.04). Pleural metastases (11/99, 11%) were associated with lower OS (Risk Ratio: 2.7; 95% CI: 1.13, 6.32; p = 0.02). ATRX mutation (17/110, 15%) was more common in Hispanic subjects (p = 0.005), in which it was associated with lower OS (p = 0.0007). Conclusions: The mutational status and metastatic pattern of LMS varies based on the LMS types, and potentially provides prognostic data. In our sample, OS was reduced in Hispanic subjects with ATRX mutation, and the presence of pleural metastases was also independently associated with shorter OS.

Metastatic Retroperitoneal Leiomyosarcoma: Case Report

Introduction: Leiomyosarcomas (LMS) are rare malignant neoplasms originating in smooth muscle, more common in women in their fifth and sixth decades of life. Inherent characteristics of the retroperitoneum allow LMS in this location to reach substantial proportions and present symptoms only in more advanced stages. Case report: A 37-year-old woman sought medical attention in July 2020 due to the growth of a painful, fixed mass in the left hemiabdomen that appeared six months earlier. The patient denied urinary or gastrointestinal alterations but reported an 8 kg weight loss in the last month. Computed tomography identified a lobulated, heterogeneous formation in the left flank measuring 8.5 cm, along with hepatic and pulmonary nodules. Subsequently, surgical resection of the lesion, nephroureterectomy, and hepatic biopsy were performed, confirming the diagnosis of LMS through anatomopathological and immunohistochemical analysis. After unsuccessful adjuvant chemotherapy, she progressed to multiple metastases and is currently undergoing palliative treatment. Conclusion: Detecting and diagnosing retroperitoneal LMS are challenging. Awareness of their aggressiveness, especially in young patients, is crucial to ensure personalized and early interventions, thereby improving the prognosis.

Deep learning radiomics-based prediction model of metachronous distant metastasis following curative resection for retroperitoneal leiomyosarcoma: a bicentric study

BackgroundCombining conventional radiomics models with deep learning features can result in superior performance in predicting the prognosis of patients with tumors; however, this approach has never been evaluated for the prediction of metachronous distant metastasis (MDM) among patients with retroperitoneal leiomyosarcoma (RLS). Thus, the purpose of this study was to develop and validate a preoperative contrast-enhanced computed tomography (CECT)-based deep learning radiomics model for predicting the occurrence of MDM in patients with RLS undergoing complete surgical resection.MethodsA total of 179 patients who had undergone surgery for the treatment of histologically confirmed RLS were retrospectively recruited from two tertiary sarcoma centers. Semantic segmentation features derived from a convolutional neural network deep learning model as well as conventional hand-crafted radiomics features were extracted from preoperative three-phase CECT images to quantify the sarcoma phenotypes. A conventional radiomics signature (RS) and a deep learning radiomics signature (DLRS) that incorporated hand-crafted radiomics and deep learning features were developed to predict the risk of MDM. Additionally, a deep learning radiomics nomogram (DLRN) was established to evaluate the incremental prognostic significance of the DLRS in combination with clinico-radiological predictors.ResultsThe comparison of the area under the curve (AUC) values in the external validation set, as determined by the DeLong test, demonstrated that the integrated DLRN, DLRS, and RS models all exhibited superior predictive performance compared with that of the clinical model (AUC 0.786 [95% confidence interval 0.649–0.923] vs. 0.822 [0.692–0.952] vs. 0.733 [0.573–0.892] vs. 0.511 [0.359–0.662]; both P < 0.05). The decision curve analyses graphically indicated that utilizing the DLRN for risk stratification provided greater net benefits than those achieved using the DLRS, RS and clinical models. Good alignment with the calibration curve indicated that the DLRN also exhibited good performance.ConclusionsThe novel CECT-based DLRN developed in this study demonstrated promising performance in the preoperative prediction of the risk of MDM following curative resection in patients with RLS. The DLRN, which outperformed the other three models, could provide valuable information for predicting surgical efficacy and tailoring individualized treatment plans in this patient population.Trial registration: Not applicable.

Outcomes of extracorporeal partial nephrectomy in patients with malignant tumors: a retrospective and prospective study

Aim. To establish the criteria of selection for extracorporeal partial nephrectomy (EPN) among patients with malignant tumors involving renal parenchyma.&#x0D; Materials and methods. The study included data of 34 patients undergone 36 EPNs (2 [5.8%] bilateral) for absolute indications in 32 (94.2%) and relative indications – in 2 (5.8%) cases. The median age of the patients was 49 (31–61) years, and 24 (70.6%) were males. 33 (97.1%) patients were diagnosed with renal cell carcinoma, 1 (2.9%) – with primary retroperitoneal leiomyosarcoma involving a solitary kidney. No regional metastases were detected in any patients; 2 patients were diagnosed with solitary metastases in the adrenal gland. In all patients EPN was performed (2 [5.8%] – with adrenalectomy); the surgery was completed in 35 (97.2%) patients. No additional anti-tumor treatment was administered in any patient. The median follow-up was 65.6 months.&#x0D; Results. The median surgery time was 674 (360–870) min, and the median blood loss was 2100 (500–7000) mL. The rate of postoperative complications of EPN was 82.9% (30/35), including 48.6% (17/35) of grade 1–4 and 8.6% (3/35) of grade 5 complications. Severe acute kidney injury was reported in 68.0% (25/33) of patients with completed EPN. Renal replacement therapy was required in 45.5% (15/33) of cases. The rate of postoperative autograft loss was 17.1% (7/35). One patient received intermittent hemodialysis (7 years after EPN). 5-year overall survival of 33 patients with completed EPN was 64.4%; the 5-year specific and disease-free survival of patients with renal cell carcinoma was 85.5% and 54.3%, respectively, and 5-year hemodialysis-free survival in patients discharged with autograft was 76.2%.&#x0D; Conclusion. EPN is indicated only for carefully selected patients with absolute indications for organ-preserving treatment, with massive multifocal centrally located malignant tumors in the renal parenchyma, the radical removal of which in situ is technically impossible.

A CT-based radiomics classification model for the prediction of histological type and tumour grade in retroperitoneal sarcoma (RADSARC-R): a retrospective multicohort analysis

Retroperitoneal sarcomas are tumours with a poor prognosis. Upfront characterisation of the tumour is difficult, and under-grading is common. Radiomics has the potential to non-invasively characterise the so-called radiological phenotype of tumours. We aimed to develop and independently validate a CT-based radiomics classification model for the prediction of histological type and grade in retroperitoneal leiomyosarcoma and liposarcoma. A retrospective discovery cohort was collated at our centre (Royal Marsden Hospital, London, UK) and an independent validation cohort comprising patients recruited in the phase 3 STRASS study of neoadjuvant radiotherapy in retroperitoneal sarcoma. Patients aged older than 18 years with confirmed primary leiomyosarcoma or liposarcoma proceeding to surgical resection with available contrast-enhanced CT scans were included. Using the discovery dataset, a CT-based radiomics workflow was developed, including manual delineation, sub-segmentation, feature extraction, and predictive model building. Separate probabilistic classifiers for the prediction of histological type and low versus intermediate or high grade tumour types were built and tested. Independent validation was then performed. The primary objective of the study was to develop radiomic classification models for the prediction of retroperitoneal leiomyosarcoma and liposarcoma type and histological grade. 170 patients recruited between Oct 30, 2016, and Dec 23, 2020, were eligible in the discovery cohort and 89 patients recruited between Jan 18, 2012, and April 10, 2017, were eligible in the validation cohort. In the discovery cohort, the median age was 63 years (range 27-89), with 83 (49%) female and 87 (51%) male patients. In the validation cohort, median age was 59 years (range 33-77), with 46 (52%) female and 43 (48%) male patients. The highest performing model for the prediction of histological type had an area under the receiver operator curve (AUROC) of 0·928 on validation, based on a feature set of radiomics and approximate radiomic volume fraction. The highest performing model for the prediction of histological grade had an AUROC of 0·882 on validation, based on a radiomics feature set. Our validated radiomics model can predict the histological type and grade of retroperitoneal sarcomas with excellent performance. This could have important implications for improving diagnosis and risk stratification in retroperitoneal sarcomas. Wellcome Trust, European Organisation for Research and Treatment of Cancer-Soft Tissue and Bone Sarcoma Group, the National Institutes for Health, and the National Institute for Health and Care Research Biomedical Research Centre at The Royal Marsden NHS Foundation Trust and The Institute of Cancer Research.

Inferior vena cava tumor thrombus: clinical outcomes at a canadian tertiary center.

This study reports the surgical management and outcomes of patients with malignancies affecting the IVC. This was a retrospective study that considered patients undergoing surgery for IVC thrombectomy in Calgary, Canada, from 1 January 2010 to 31 December 2021. Parameters of interest included primary malignancy, the extent of IVC involvement, surgical strategy, and medium-term outcomes. Six patients underwent surgical intervention for malignancies that affected the IVC. One patient had a retroperitoneal leiomyosarcoma, 1 had hepatocellular carcinoma with thrombus extending into the IVC and right atrium, 1 had adrenocortical carcinoma with IVC thrombus extending into the right atrium, and 3 had clear cell renal cell carcinoma with thrombus extending into the IVC. Surgical strategy for the IVC thrombectomy varied where 5 patients required the institution of cardiopulmonary bypass and underwent deep hypothermic circulatory arrest. No patient died perioperatively. One patient died 15-months post-operatively from aggressive malignancy. Different types of malignancy can affect the IVC and surgical intervention is usually indicated for these patients. Herein, we have reported the outcomes of IVC thrombectomy at our center.

The role of ablation therapy and brachytherapy in the management of metastatic leiomyosarcoma: A case report

Local therapies such as ablation therapy and brachytherapy may play a role in the management of patients with metastatic sarcomas. Here, we report a case of retroperitoneal leiomyosarcoma in a 62-year-old male, who developed local recurrence and pulmonary, hepatic, renal, peritoneal, intramuscular, and subcutaneous metastases

Nomogram predicting overall survival after surgical resection for retroperitoneal leiomyosarcoma patients.

Surgery is the best way to cure the retroperitoneal leiomyosarcoma (RLMS), and there is currently no prediction model on RLMS after surgical resection. The objective of this study was to develop a nomogram to predict the overall survival (OS) of patients with RLMS after surgical resection. Patients who underwent surgical resection from September 2010 to December 2020 were included. The nomogram was constructed based on the COX regression model, and the discrimination was assessed using the concordance index. The predicted OS and actual OS were evaluated with the assistance of calibration plots. 118 patients were included. The median OS for all patients was 47.8 (95% confidence interval (CI), 35.9-59.7) months. Most tumor were completely resected (n=106, 89.8%). The proportions of French National Federation of Comprehensive Cancer Centres (FNCLCC) classification were equal as grade 1, grade 2, and grade 3 (31.4%, 30.5%, and 38.1%, respectively). The tumor diameter of 73.7% (n=85) patients was greater than 5 cm, the lesions of 23.7% (n=28) were multifocal, and 55.1% (n=65) patients had more than one organ resected. The OS nomogram was constructed based on the number of resected organs, tumor diameter, FNCLCC grade, and multifocal lesions. The concordance index of the nomogram was 0.779 (95% CI, 0.659-0.898), the predicted OS and actual OS were in good fitness in calibration curves. The nomogram prediction model established in this study is helpful for postoperative consultation and the selection of patients for clinical trial enrollment.

A competing risk-based nomogram to predict cancer-specific survival in patients with retroperitoneal leiomyosarcoma

Considering the rarity and aggressive nature of retroperitoneal leiomyosarcoma (RLMS), several prognostic factors might contribute to the cancer-specific mortality of these patients. This study aimed to construct a competing risk-based nomogram to predict cancer-specific survival (CSS) for patients with RLMS. In total, 788 cases from the Surveillance, Epidemiology, and End Results (SEER) database (2000–2015) were included. Based on the Fine & Gray's method, independent predictors were screened to develop a nomogram for predicting 1-, 3-, and 5-year CSS. After multivariate analysis, CSS was found significantly associated with tumor characteristics (tumor grade, size, range), as well as surgery status. The nomogram showed solid prediction power and was well calibrated. Through decision curve analysis (DCA), a favorable clinical utility of the nomogram was demonstrated. Additionally, a risk stratification system was developed and distinctive survival between risk groups was observed. In summary, this nomogram showed a better performance than the AJCC 8th staging system and can assist in the clinical management of RLMS.

LAPAROSCOPIC LIVER RESECTION FOR METASTASIS OF RETROPERITONEAL LEIOMYOSARCOMA

Abstract Introduction Soft tissue leiomyosarcomas represents 0.7% of all malignant tumors. The most common location is the retroperitoneum, and the appearance of local or distant recurrences after resection is not uncommon. Pathological study is important to establish the confirmatory diagnosis and the prognosis of this type of lesion. Clinical case We present the clinical case of a patient with retroperitoneal leiomyosarcoma that was resected associated with ipsilateral nephrectomy. An 11-month follow-up revealed a hepatic lesion in segment 5, suggestive of metastasis. We decided on surgical resection of this lesion. Liver segmentectomy was performed by laparoscopic approach. The pathological study of the liver lesion showed a tumor of about 5 centimeters, compatible with leiomyosarcoma metastasis, presenting abundant mitoses (8/10), 15% necrosis in the central area and a Ki67 of 20%. Discussion Leiomyosarcoma is a very aggressive tumor. Its treatment is fundamentally based on the surgical resection of the primary and its possible metastases. The pathological study of the piece, with special emphasis on the number of mitoses, as well as the Ki- 67%, are indicators of the aggressiveness of the tumor and the prognosis. Given the low incidence of these tumors, it is recommended that the approach of these tumors be done in multidisciplinary teams and in specialized centers.

A novel nomogram model to predict the overall survival of patients with retroperitoneal leiomyosarcoma: a large cohort retrospective study

Retroperitoneal leiomyosarcomas (RLS) are the second most common type of retroperitoneal sarcoma and one of the most aggressive tumours. The lack of early warning signs and delay in regular checkups lead to a poor prognosis. This study aims to create a nomogram to predict RLS patients' overall survival (OS). Patients diagnosed with RLS in the Surveillance, Epidemiology, and End Results (SEER) database between 2000 and 2018 were enrolled in this study. First, univariable and multivariable Cox regression analyses were used to identify independent prognostic factors, followed by constructing a nomogram to predict patients' OS at 1, 3, and 5 years. Secondly, the nomogram's distinguishability and prediction accuracy were assessed using receiver operating characteristic (ROC) and calibration curves. Finally, the decision curve analysis (DCA) investigated the nomogram's clinical utility. The study included 305 RLS patients, and they were divided into two groups at random: a training set (216) and a validation set (89). The training set's multivariable Cox regression analysis revealed that surgery, tumour size, tumour grade, and tumour stage were independent prognostic factors. ROC curves demonstrated that the nomogram had a high degree of distinguishability. In the training set, area under the curve (AUC) values for 1, 3, and 5 years were 0.800, 0.806, and 0.788, respectively, while in the validation set, AUC values for 1, 3, and 5 years were 0.738, 0.780, and 0.832, respectively. As evidenced by the calibration curve, the nomogram had high prediction accuracy. Moreover, DCA revealed that the nomogram had high clinical utility. Furthermore, the risk stratification system based on the nomogram could effectively categorise patients into three mortality risk subgroups. Therefore, the developed nomogram and risk stratification system may aid in optimising the treatment decisions of RLS patients to improve treatment prognosis and maximise their healthcare outcomes.

Trabectedin in advanced retroperitoneal well differentiated/dedifferentiated liposarcoma and leiomyosarcoma (TRAVELL): Results of a phase 2 study from Italian sarcoma group (ISG).

11575 Background: To further explore the activity of T as second/further line treatment in retroperitoneal leiomyosarcoma (LMS) and well differentiated/dedifferentiated liposarcoma (LPS). The primary endpoint of the study was the growth modulation rate (GMR) defined as the ratio between the time to progression under T (TTP) and during previous chemotherapy treatment (TTP-1). The secondary end-points were objective response rate as per RECIST and PFS. Methods: This was a multicenter, single-arm Phase 2 study, conducted in 20 Italian centers. Patients with locally relapsed or metastatic disease, already treated with one or more previous systemic treatments with anthracyclines and/or ifosfamide, were enrolled. T was administered at a dose of 1.3-1.5 mg/mq with a top dose of 2.6 mg per cycle. T was administered as a 24h continuous infusion until progressive disease, major toxicity, patient’s intolerance or medical decision. As per protocol, patients were considered responders if the GMR was &gt; 1.33, non-responders if &lt; 0.75 and neither if 0.76-1.32. Eighty evaluable patients were needed to detect an odds of trabectedin response ≥ 2.5, corresponding to 71.4% of patients with a GMR &gt; 1.33 (80% power, one-sided alpha 2.5%). Results: From August 2014 to February 2019, 104 patients were registered and 91 were evaluable for the primary endpoint (32 pts with LMS and 59 with LPS). Overall, the median number of cycles received was 6.0 (q1-q3 3.0-12.0), the main reason for treatment discontinuation was disease progression in 72% of patients, followed by medical decision (8%). The median TTP was 6.0 months (6.2 and 6.0 for LMS and LPS), while the median TTP-1 was 7.5 months (8.1 and 6.4 for LMS and LPS). Thirty three patients (52% 95%CI: 36-58, p = 0.674, odds of response = 1.1) had a GMR &gt; 1.33 (LMS: 46%, 95%CI 26-67,odds = 0.85; LPS 56%, 95%CI 40-72, odds = 1.3).Overall, response rate (CR+PR) was 16% (24% for LMS and 12% for LPS). Overall, in LPS we observed 15/47 patients with GMR &lt; 0.5 and 15/47 with GMR &gt; 2. Among LMS patients, 9/26 had a GMR &lt; 0.5 and 10/26 &gt; 2. Between LPS six patients had a GMR &gt; 5. Previous treatment had been based on anthracyclines and/or ifosfamide in 85% of patients (91% in LPS population). Conclusions: While the primary end point of the study was not met, we noticed a subgroup of patients with a markedly discrepant TTP with T in comparison to previous therapy (GMR &lt; 0.5 or &gt; 2, the latter including some pts with a long TTP with T). Efforts are ongoing to assess the pathologic counterparts of such discrepancies. T seems to be selectively active in poorly understood subgroups, with a pattern of activity distinct from other available agents. Clinical trial information: 2012-005428-14.

METASTATIC LEIOMYOSARCOMA OF THE PALATAL GINGIVA MASQUERADING AS A PYOGENIC GRANULOMA

Leiomyosarcoma (LMS) is a smooth muscle neoplasm, accounting for 7% of soft-tissue and 1-4% of head-neck sarco- mas. Oral-LMS is extremely uncommon and may represent primary or metastatic disease. We describe a 46-year- old female with a medical history of "stomach cancer" who presented with a palatal mass. Upon further inquiry, it was discovered that the patient had been diagnosed with high-grade LMS of the retroperitoneum six years prior, which had been treated with radical resection and right nephrectomy followed by post-operative radiation and ad- juvant chemotherapy. She subsequently developed liver metastasis requiring modification of her chemotherapy. However, she had elected to discontinue treatment one year prior to the presentation of the oral lesion. A biopsy of the palatal mass revealed a malignant spindle-cell proliferation expanding the overlying epithelium, with brisk mitotic activity and atypical mitosis, nuclear pleomorphism, and focal areas of tumor necrosis, raising the concern for LMS. Immunohistochemical (IHC) stains for SMA were strongly positive while negative for DOG1 and CD 117. Based on the history and supportive histopathological and IHC findings, a diagnosis of metastatic LMS of the palate was given. Oral metastases of LMS are exceedingly rare and aggressive lesions that arise mostly in females in their sixth-decade. Literature review shows that metastases to the tongue, gingiva, lip, and buccal mucosa are typically associated with primary uterine tumors, while metastasis to the mandibular gingiva is documented frequently with non-uterine primaries. Clinically, lesions can present as a nonspecific painful mass. Microscopic diagnosis is often challenging due to significant overlap with other spindle-cell neoplasms, requiring careful correlation with medical history, physical examination, and ancillary studies. We herein report a rare case of a retroperitoneal LMS that metastasized to the palate. A literature review of metastatic oral-LMS and retrospective institutional analysis of oral metastases will also be presented.

Discordance of Histological Grade between Diagnostic Core-Needle Biopsy and Resection Specimen for Retroperitoneal Leiomyosarcomas

Background: Diagnostic core-needle biopsy (DCNB) allows to identify the histological subtype of soft-tissue sarcoma in retroperitoneal sarcomas (RPS) with reasonable accuracy and safety. This allows for treatment tailored to different histologic subtypes of RPS, including neoadjuvant therapy. The discrepancy between the histological grade between DCNB and the resection specimen for retroperitoneal Leiomyosarcomas (RPLMS) has been highlighted before. The histological grade on DCNB is an important tool to select patients for preoperative therapy.

Analysis of the Efficacy of Anlotinib in the Late-Line Treatment of Advanced Leiomyosarcoma: A Case Report

Primary retroperitoneal leiomyosarcoma originated from smooth muscle tissue or mesenchymal cells with the potential to differentiate into smooth muscle cells, showing aggressive growth, easy to recur and metastasize after operation, with a 5-year overall survival rate of 28% - 40%. Multidisciplinary comprehensive treatment based on surgery is an effective means of leiomyosarcoma, while radiotherapy is mainly aimed at subclinical lesions and residual lesions. There is no standard treatment for advanced retroperitoneal leiomyosarcoma. How to effectively prolong the survival time of patients is worth discussing. <i>Aim: </i>To determine the comprehensive treatment of retroperitoneal leiomyosarcoma based on surgery, and to explore the effective prolongation of the survival time of patients with advanced retroperitoneal leiomyosarcoma. <i>Case Summary: </i>A female with pelvic leiomyosarcoma survived for 70 months after surgery, postoperative radiotherapy, local ablation and chemoembolization. Finally, multiple metastases of lung and liver occurred, abdominal distension and fatigue was hospitalized. After oral administration of anlotinib 12mg q1-14d, she survived for 10 months. <i>Conclusion: </i>Leiomyosarcoma needs multidisciplinary comprehensive treatment based on surgery. Late-line anti angiogenesis therapy with arotinib can improve the quality of life of patients and effectively prolong the progression free survival of advanced patients because of its mild adverse reactions, good tolerance and Oral convenience.

Leiomiossarcoma de veia cava inferior como etiologia para dor abdominal crônica – um relato de caso

Inferior vena cava leiomyosarcomas are rare tumors that account for less than 0.7% of all retroperitoneal leiomyosarcomas. They are more common in women and cause nonspecific chronic abdominal pain. In this report, we present the case of a 53-year-old female patient complaining of chronic nonspecific periumbilical abdominal pain with initial onset 8 months previously who was diagnosed with inferior vena cava leiomyosarcoma by computed tomography angiography. The patient was treated with complete resection of the tumor and reconstruction of the inferior vena cava with interposition of a Dacron prosthetic graft. The treatment considered the gold standard consists of complete surgical excision, because these tumors are resistant to chemotherapy and radiotherapy. The prognosis of these patients is closely related to early diagnosis. Therefore, it is very important that vascular and general surgeons know that this disease is a possible differential diagnosis of chronic abdominal pains.

Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A\u2009>\u2009T: a case report

BackgroundRAD51D (RAD51 paralog D) is an intermediate cancer susceptibility gene for primary ovarian cancer, including fallopian tube and peritoneal carcinomas and breast cancer. Although gynecological non-epithelial tumors such as uterine sarcomas are associated with genomic instability, including BRCA impairment, there is no clear evidence of the relationship between RAD51D variants and the risk of sarcoma development.Case presentationA Japanese woman in her 50s underwent multiple surgical resections and several regimens of chemotherapy for tumors that originated in the retroperitoneum and recurred in the peritoneum over a clinical course of approximately 4 years. The peritoneal tumor was histologically diagnosed as a leiomyosarcoma and was genetically identified to show a splice variant of RAD51D c.904-2A > T [NM_002878] through tumor profiling performed as a part of cancer precision medicine. The confirmatory genetic test performed after genetic counseling revealed that the RAD51D splicing variant detected in her tumor was of germline origin. In silico analyses supported the possible pathogenicity of the detected splice variant of RAD51D with a predicted attenuation in mRNA transcription and truncated protein production due to frameshifting, which was attributed to a single-nucleotide alteration in the splicing acceptor site at the 3′-end of intron 9 of RAD51D. Considering her unfavorable clinical outcome, which showed a highly aggressive phenotype of leiomyosarcoma with altered RAD51D, this case provided novel evidence for the relationship of a RAD51D splicing variant with malignant tumor development or progression. We report the findings of this rare case with possible involvement of the germline variant of RAD51D c.904-2A > T as a potential predisposing factor for malignant tumors, including leiomyosarcoma.ConclusionsWe present the findings of a case of leiomyosarcoma in the peritoneum of a female patient with a novel germline splicing variant of RAD51D as potential evidence for the pathogenicity of the variant and its involvement in the risk of sarcoma etiology and/or development. To the best of our knowledge, this is the first case report describing a leiomyosarcoma carrying a germline RAD51D splicing variant and elucidating its pathogenicity on the basis of computational prediction of the impairment of normal transcription and the presumed loss of functional protein production.

Abdominal Pain and Abdominal Mass

Acute abdominal pain and abdominal mass are intimately connected; therefore, the diagnostic process for evaluating abdominal pain and abdominal masses is largely the same and has been preserved since ancient times. The primary goals in the management of patients with abdominal pain and/or abdominal mass are to establish a differential diagnosis by obtaining a clinical history, to refine the differential diagnosis with a physical examination and appropriate studies, and to determine the role of operative intervention in the treatment or refinement of the working diagnosis. This review describes the process of diagnosing abdominal pain, including taking a clinical history and performing a physical examination. Investigative studies, including laboratory tests, imaging, and pathology are reviewed. Management, including surgical treatment, is discussed. Tables describe intraperitoneal and extraperitoneal causes of acute abdominal pain, frequency of specific diagnoses in patients with acute abdominal pain, and common abdominal signs and findings noted on physical examination. Figures show abdominal pain in specific locations, a data sheet, the differential diagnosis of an abdominal mass by quadrant or region, characteristic patterns of abdominal pain, acute appendicitis with associated appendicolith, bilateral adrenal masses, adrenocortical carcinoma, retroperitoneal leiomyosarcoma, pancreatic mass, a sagittal ultrasonogram of the pancreas, ultrasonograms of the liver, a dark and well circumscribed abdominal mass, gastroesophageal junction adenocarcinoma, and percutaneous biopsy of a large abdominal mass. An algorithm outlines the assessment of acute abdominal pain and abdominal mass. This review contains 16 figures, 5 tables, and 164 references. Keywords: anatomy, swellings, inflammatory, opioid, palpatation, PET, COVID 19