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BMC Women's Health Sep 2023Intravenous leiomyomatosis (IVL) is a rare and specific type of smooth muscle tumor that is histologically benign but has a malignant biological behavior. It is commonly...
BACKGROUND
Intravenous leiomyomatosis (IVL) is a rare and specific type of smooth muscle tumor that is histologically benign but has a malignant biological behavior. It is commonly associated with a history of uterine leiomyomas.
CASE PRESENTATION
A 36-year-old woman, G1P1, presented to the hospital with left lower abdominal pain for 2 months and she has accepted hysteroscopic myomectomy about 1 year ago. Ultrasound venography, echocardiography and computed tomography venography (CTV) of inferior vena cava were performed, which revealed IVL located in left intramural myometrium walls growing along the left ovarian vein reaching the level of the lumbar 5-sacral 1 disc. Laparoscopic bilateral salpingo-oophorectomy and hysterectomyis were scheduled. The IVL in the left ovarian vein and parauterine venous plexus were detected and excised completely during surgery. IVL was diagnosed by postoperative pathology and immunohistochemistry. The patient recovered well after surgery. No surgical-related or anesthesia-related complications occurred.The 3-month follow-up CTV of inferior vena cava and echocardiography examination revealed normal.
CONCLUSIONS
The cause of IVL is unknown, this observation demonstrates that hysteroscopic myomectomy might lead to the occurrence of IVL.
Topics: Female; Humans; Adult; Leiomyomatosis; Abdominal Pain; Echocardiography; Myometrium; Pelvis
PubMed: 37697329
DOI: 10.1186/s12905-023-02618-3 -
Current Treatment Options in Oncology Mar 2022Leiomyosarcoma is one of the most common subtypes of soft tissue sarcomas accounting for approximately 20% of sarcomas. As leiomyosarcoma patients frequently develop... (Review)
Review
Leiomyosarcoma is one of the most common subtypes of soft tissue sarcomas accounting for approximately 20% of sarcomas. As leiomyosarcoma patients frequently develop metastatic disease, effective systemic therapies are needed to improve clinical outcomes. The overall activity of the currently available conventional systemic therapies and the prognosis of patients with advanced and/or metastatic disease are poor. As such, the treatment of this patient population remains challenging. As a result, there is a clear unmet medical need, and designing and performing meaningful clinical studies are of utmost importance to improve the prognosis of this patient group. Therefore, the aim of this review is to briefly summarize state-of-the-art treatments for leiomyosarcoma patients and to describe trial characteristics needed for informative clinical studies.
Topics: Humans; Leiomyosarcoma; Prognosis; Sarcoma; Soft Tissue Neoplasms
PubMed: 35275323
DOI: 10.1007/s11864-021-00928-y -
Modern Pathology : An Official Journal... Sep 2022Correctly diagnosing a rare childhood cancer such as sarcoma can be critical to assigning the correct treatment regimen. With a finite number of pathologists worldwide...
Correctly diagnosing a rare childhood cancer such as sarcoma can be critical to assigning the correct treatment regimen. With a finite number of pathologists worldwide specializing in pediatric/young adult sarcoma histopathology, access to expert differential diagnosis early in case assessment is limited for many global regions. The lack of highly-trained sarcoma pathologists is especially pronounced in low to middle-income countries, where pathology expertise may be limited despite a similar rate of sarcoma incidence. To address this issue in part, we developed a deep learning convolutional neural network (CNN)-based differential diagnosis system to act as a pre-pathologist screening tool that quantifies diagnosis likelihood amongst trained soft-tissue sarcoma subtypes based on whole histopathology tissue slides. The CNN model is trained on a cohort of 424 centrally-reviewed histopathology tissue slides of alveolar rhabdomyosarcoma, embryonal rhabdomyosarcoma and clear-cell sarcoma tumors, all initially diagnosed at the originating institution and subsequently validated by central review. This CNN model was able to accurately classify the withheld testing cohort with resulting receiver operating characteristic (ROC) area under curve (AUC) values above 0.889 for all tested sarcoma subtypes. We subsequently used the CNN model to classify an externally-sourced cohort of human alveolar and embryonal rhabdomyosarcoma samples and a cohort of 318 histopathology tissue sections from genetically engineered mouse models of rhabdomyosarcoma. Finally, we investigated the overall robustness of the trained CNN model with respect to histopathological variations such as anaplasia, and classification outcomes on histopathology slides from untrained disease models. Overall positive results from our validation studies coupled with the limited worldwide availability of sarcoma pathology expertise suggests the potential of machine learning to assist local pathologists in quickly narrowing the differential diagnosis of sarcoma subtype in children, adolescents, and young adults.
Topics: Adolescent; Animals; Child; Humans; Machine Learning; Mice; Neural Networks, Computer; Pathologists; Rhabdomyosarcoma; Rhabdomyosarcoma, Embryonal; Young Adult
PubMed: 35449398
DOI: 10.1038/s41379-022-01075-x -
Archives of Pathology & Laboratory... Aug 2022Rhabdomyosarcoma, the most common soft tissue sarcoma of children, is currently classified into the following 4 subtypes: embryonal rhabdomyosarcoma, alveolar... (Review)
Review
CONTEXT.—
Rhabdomyosarcoma, the most common soft tissue sarcoma of children, is currently classified into the following 4 subtypes: embryonal rhabdomyosarcoma, alveolar rhabdomyosarcoma, spindle cell/sclerosing rhabdomyosarcoma, and pleomorphic rhabdomyosarcoma, based on recent molecular genetic knowledge and morphologic features.
OBJECTIVE.—
To highlight the most recent advances of molecular genetic alterations, and to familiarize pathologists with most recent genotype and phenotype correlation in rhabdomyosarcoma.
DATA SOURCES.—
Data were derived from the World Health Organization Classification of Soft Tissue and Bone Tumors, fifth edition, recently published literature (PubMed), and clinical practice experience.
CONCLUSIONS.—
Current classification has been significantly impacted by genotype and phenotype correlation, especially with PAX-FOXO1 fusion-positive rhabdomyosarcoma versus fusion-negative rhabdomyosarcoma, and with the emergence of 3 distinct new subtypes of spindle cell/sclerosing rhabdomyosarcoma. Although all rhabdomyosarcomas were considered a single diagnostic entity in the past, they are now considered to be a group of histologically similar but biologically diverse entities because their clinical behavior and underlying molecular alterations dramatically differ. This review outlines recent molecular genetic developments, corresponding morphologic features, and current challenges faced by pathologists in daily practice.
Topics: Humans; Mutation; Rhabdomyosarcoma; Rhabdomyosarcoma, Embryonal; Soft Tissue Neoplasms; World Health Organization
PubMed: 35051261
DOI: 10.5858/arpa.2021-0183-RA -
Modern Pathology : An Official Journal... Sep 2020Intravenous leiomyomatosis (IVL) is an unusual uterine smooth muscle proliferation that can be associated with aggressive clinical behavior despite a histologically...
Intravenous leiomyomatosis (IVL) is an unusual uterine smooth muscle proliferation that can be associated with aggressive clinical behavior despite a histologically benign appearance. It has some overlapping molecular characteristics with both uterine leiomyoma and leiomyosarcoma based on limited genetic data. In this study, we assessed the clinical and morphological characteristics of 28 IVL and their correlation with molecular features and protein expression, using array comparative genomic hybridization (aCGH) and Cyclin D1, p16, phosphorylated-Rb, SMARCB1, SOX10, CAIX, SDHB and FH immunohistochemistry. The most common morphologies were cellular (n = 15), usual (n = 11), and vascular (n = 5; including 3 cellular IVL showing both vascular and cellular features). Among the immunohistochemical findings, the most striking was that all IVL showed differential expression of either p16 or Cyclin D1 in comparison to surrounding nonneoplastic tissue. Cytoplasmic phosphorylated-Rb was present in all but one IVL with hyalinization. SMARCB1, FH, and SDHB were retained; S0X10 and CAIX were not expressed. The most common genetic alterations involved 1p (39%), 22q (36%), 2q (29%), 1q (25%), 13q (21%), and 14q (21%). Hierarchical clustering analysis of recurrent aberrations revealed three molecular groups: Groups 1 (29%) and 2 (18%) with associated del(22q), and Group 3 (18%) with del(10q). The remaining IVL had nonspecific or no alterations by aCGH. Genomic index scores were calculated for all cases and showed no significant difference between the 14 IVL associated with aggressive clinical behavior (extrauterine extension or recurrence) and those without (median scores 5.15 vs 3.5). Among the 5 IVL associated with recurrence, 4 had a vascular morphology and 3 had alterations of 8q. Recurrent chromosome alterations detected herein overlap with those observed in the spectrum of uterine smooth muscle tumors and involve genes implicated in mesenchymal tumors at different sites with distinct morphological features.
Topics: Adult; Aged; Aged, 80 and over; Comparative Genomic Hybridization; Cyclin D1; Cyclin-Dependent Kinase Inhibitor p16; Female; Humans; Leiomyomatosis; Middle Aged; Phosphorylation; Uterine Neoplasms; Uterus
PubMed: 32341498
DOI: 10.1038/s41379-020-0546-8 -
Advances in Clinical and Experimental... Oct 2023Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and represents a high-grade neoplasm of skeletal myoblast-like cells. About 40% of all... (Review)
Review
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and represents a high-grade neoplasm of skeletal myoblast-like cells. About 40% of all registered soft tissue tumors are RMSs. This paper describes our current understanding of the RMS subtypes (alveolar (ARMS), embryonic (ERMS), pleomorphic (PRMS), and spindle cell/sclerosing (s/scRMS)), diagnostic methods, molecular bases, and characteristics. We also present the currently used treatment methods and the potential use of natural substances in the treatment of this type of cancer. Natural cytotoxic substances are compounds that have been the subject of numerous studies and discussions in recent years. Since anti-cancer therapies are often limited by a low therapeutic index and cancer resistance to pharmacotherapy, it is very important to search for new, effective compounds. Additionally, compounds of a natural origin are usually readily available and have a reduced cytotoxicity. Thus, the undiscovered potential of natural anti-cancer compounds makes this field of research a very important area. The introduction of model species into research examining the use of natural cytostatic therapies for RMS will allow for further assessment of the effects of these compounds on cancerous and healthy tissues.
Topics: Child; Humans; Cytostatic Agents; Rhabdomyosarcoma; Sarcoma; Soft Tissue Neoplasms
PubMed: 36920267
DOI: 10.17219/acem/161165 -
F1000Research 2020Rhabdomyosarcoma (RMS) is a high-grade malignant neoplasm, with a morphologic appearance mimicking that of developing skeletal muscle. Over the last 30 years, patient... (Review)
Review
Rhabdomyosarcoma (RMS) is a high-grade malignant neoplasm, with a morphologic appearance mimicking that of developing skeletal muscle. Over the last 30 years, patient outcomes have improved with the incorporation of multimodal therapies, including chemotherapy, radiation therapy, and surgery. The overall cure rates exceed 70%, with patients who have low-, intermediate-, and high-risk disease experiencing long-term survival rates of >90%, 70%, and <30%, respectively. Historically, RMS was classified according to histology; however, recent advances have revealed new molecular subgroups that allow us to more accurately identify high-, intermediate-, and low-risk disease. In this review, we discuss recent advances made in understanding RMS tumor biology and propose how this understanding can drive a new classification system that can guide clinical approaches for treatment de-escalation in patients with expected favorable outcomes and escalation for those with expected poor outcomes.
Topics: Child; Combined Modality Therapy; Humans; Muscle, Skeletal; Rhabdomyosarcoma; Risk
PubMed: 32695311
DOI: 10.12688/f1000research.22451.1 -
Medicine Aug 2021Alveolar soft part sarcomas (ASPS) which has high potential ability of metastasis, is a rare and slowly growing malignant tumor, and mainly primary localized in limbs.... (Review)
Review
OBJECTIVE
Alveolar soft part sarcomas (ASPS) which has high potential ability of metastasis, is a rare and slowly growing malignant tumor, and mainly primary localized in limbs. To date, little is known about the best treatment of ASPS. This study aims to review the current management and advance of ASPS.
METHODS
WANFANG MED ONLINE, CNKI, and NCBI PUBMED were used to search literature spanning from 1963 to 2020, and all cases of ASPS about "ASPS, diagnosis, treatment, surgery, radiotherapy, chemotherapy, target therapy or immune therapy" with detailed data were included.
RESULTS
Complete surgical resection remained the standard management strategy, radiotherapy was reported to be used for the patients of micro- or macroscopical incomplete residue or the surgical margin was questionable. Chemotherapy was controversial. Some target drugs and immune checkpoint inhibitors had produced antitumor activity.
CONCLUSION
Complete surgical resection is the cure treatment for ASPS, and adjuvant chemotherapy is not recommended excepted clinical trials. For the patients with micro- or macroscopical incomplete residue, radiotherapy should be appreciated. Furthermore, for recurrence, distant metastasis, and refractory of ASPS, combination therapy, especially combination with multiple target agents and/or immune checkpoint inhibitors may prolong survival time.
Topics: Disease Management; Humans; Medication Therapy Management; Radiotherapy; Sarcoma, Alveolar Soft Part; Surgical Procedures, Operative
PubMed: 34397835
DOI: 10.1097/MD.0000000000026805 -
European Journal of Cancer (Oxford,... Jun 2022Spindle cell rhabdomyosarcoma (RMS) is a rare variant of RMS accounting for up to 10% of cases in infants. In older children and adults, spindle cell RMS is associated...
BACKGROUND
Spindle cell rhabdomyosarcoma (RMS) is a rare variant of RMS accounting for up to 10% of cases in infants. In older children and adults, spindle cell RMS is associated with MYOD1 mutations and a poor prognosis. In infants, it is associated with recurring fusions involving NCOA2 and VGLL2. Reports in the literature suggest a favorable prognosis for this subset, however, little is known about treatment and outcome data of infants with spindle cell RMS.
METHODS
Characteristics, treatment, and outcome of an international cohort of 40 patients aged ≤ 12 months with spindle cell RMS treated from 1997 to 2018 were evaluated.
RESULTS
Localized disease (LD) was diagnosed in 39 patients. The median age at diagnosis was 2.5 months (range 0-12 months). Expert pathologic review confirmed the diagnosis of spindle cell RMS in all patients. Among 26 tumors that had molecular evaluation, 13 had rearrangements of NCOA and/or VGLL. Multimodal treatment of infants with LD included conventional (age adjusted) chemotherapy (n = 37), resection (n = 31) and radiotherapy (RT) (n = 5, brachytherapy in 3). Complete remission was achieved in 37/39 patients. Progressive disease occurred in two infants, relapsed disease in three. Microscopically complete surgical resection was associated with five-year event-free survival (EFS) and overall survival (OS) of 100%. Two patients with tumors ≤ 5 cm were treated with microscopically complete resection only and were alive 1 and 4.2 years after diagnosis. The 5-year EFS and OS for infants with LD were 86% (±11; CI 95%) and 91% (±9; CI 95%), respectively. One patient had metastatic disease (NCOA fusion positive) with primary tumor in head and neck and brain metastases. This patient died despite chemotherapy and delayed resection of the primary tumor due to respiratory failure secondary to cytomegalovirus infection 1.2 years after diagnosis.
CONCLUSION
Infants with spindle cell RMS have an excellent prognosis. Multimodal treatment including microscopically complete resection of the tumor is strongly recommended.
Topics: Adult; Child; Gene Rearrangement; Humans; Infant; Infant, Newborn; Neoplasm Recurrence, Local; Prognosis; Rhabdomyosarcoma; Rhabdomyosarcoma, Embryonal
PubMed: 35452896
DOI: 10.1016/j.ejca.2022.03.022 -
Beijing Da Xue Xue Bao. Yi Xue Ban =... Dec 2021Testicular rhabdomyosarcoma is relatively rare in testicular tumors, but the age of patient is relatively young and the degree of malignancy is high. Therefore, this...
Testicular rhabdomyosarcoma is relatively rare in testicular tumors, but the age of patient is relatively young and the degree of malignancy is high. Therefore, this article introduces 4 cases of testicular rhabdomyosarcoma who were admitted to Peking University Third Hospital from May 1994 to February 2019, and reviews the literature to improve the diagnosis and treatment of this disease. The average age of the 4 patients was 17.5 years (14-21 years), the average hospital stay was 22.0 d (17-31 d), and the average body mass index was 19.6 kg/m (14.7-25.8 kg/m). All the patients underwent routine preoperative blood and urine routine, biochemical tests, as well as serum tumor markers. Preoperative examinations also included chest radiograph, electrocardiogram, ultrasound of the scrotum and groin, and abdominal enhanced CT. Lung CT or other examinations were performed if necessary. The median serum human chorionic gonadotropin (HCG) of the 4 patients was 0.20 IU/L (0.06-0.86 IU/L) (all normal), and the median serum alpha-fetoprotein (AFP) was 1.03 g/L (0.65-1.66 g/L) (all normal). The average maximum diameter of the tumor was 10.0 cm (4.5-15.0 cm). Testicular rhabdomyosarcoma was mainly diagnosed by pathology. The main treatment was radical orchiectomy combined with retroperitoneal lymph node dissection, with or without postoperative adjuvant chemotherapy. The clinical manifestations of the patients with testicular rhabdomyosarcoma had no specific characteristics, but most patients were young at onset with mainly painless masses in the testicles, which were already large when they were found. Patients with testicular rhabdomyosarcoma have a poor prognosis, most of whom recur within two years. Because of the small number of cases of testicular rhabdomyosarcoma, there is no standard treatment currently. It is recommended that patients with testicular rhabdomyosarcoma undergo radical testicular resection combined with retroperitoneal lymph node dissection. Retroperitoneal lymph node metastasis is an important prognostic factor, and patients with postoperative adjuvant chemotherapy can still survive for a longer time. If local recurrence or limited metastasis is found after operation, local resection and salvage radiotherapy are feasible.
Topics: Adolescent; Biomarkers, Tumor; Humans; Lymph Node Excision; Male; Rhabdomyosarcoma; Scrotum; Testicular Neoplasms
PubMed: 34916701
DOI: 10.19723/j.issn.1671-167X.2021.06.028