-
Critical Reviews in Oncology/hematology Aug 2023Lynch syndrome (LS) is a genetic predisposition leading to colorectal and non-colorectal tumors such as endometrial, upper urinary tract, small intestine, ovarian,... (Review)
Review
Lynch syndrome (LS) is a genetic predisposition leading to colorectal and non-colorectal tumors such as endometrial, upper urinary tract, small intestine, ovarian, gastric, biliary duct cancers and glioblastoma. Though not classically associated with LS, growing literature suggests that sarcomas might develop in patients with LS. This systematic review of literature identified 44 studies (N = 95) of LS patients who developed sarcomas. It seems that most sarcomas developed in patients with a germline mutation of MSH2 (57 %) exhibit a dMMR (81 %) or MSI (77 %) phenotype, as in other LS-tumors. Although undifferentiated pleomorphic sarcoma (UPS), leiomyosarcoma, and liposarcoma remain the most represented histologic subtype, a higher proportion of rhabdomyosarcoma (10 %, especially pleomorphic rhabdomyosarcoma) is reported. Further studies are required to better characterize this sub-population.
Topics: Humans; Colorectal Neoplasms, Hereditary Nonpolyposis; Colorectal Neoplasms; Genetic Predisposition to Disease; Germ-Line Mutation; Sarcoma; Rhabdomyosarcoma; DNA Mismatch Repair; Microsatellite Instability
PubMed: 37301271
DOI: 10.1016/j.critrevonc.2023.104055 -
International Journal of Gynaecology... Nov 2023The effect of FIGO (the International Federation of Gynecology & Obstetrics) type 3 myomas on in vitro fertilization (IVF) is uncertain. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The effect of FIGO (the International Federation of Gynecology & Obstetrics) type 3 myomas on in vitro fertilization (IVF) is uncertain.
OBJECTIVES
To evaluate whether FIGO type 3 myomas affect IVF outcomes, through a systematic review and meta-analysis (CRD42022379700).
SEARCH STRATEGY
Electronic databases were searched until November 15, 2022.
SELECTION CRITERIA
Studies evaluating the effects of FIGO type 3 myomas on IVF outcome.
DATA COLLECTION AND ANALYSIS
Pooled results were expressed as odds ratios (OR) with 95% confidence intervals (CI). Heterogeneity was assessed using Higgins I . Sources of heterogeneity were explored with sensitivity and subgroup analyses.
MAIN RESULTS
In total, 1020 patients were included: 324 with FIGO type 3 myomas and 696 controls (without myomas). A pooled data analysis showed a significantly lower live birth rate (OR 2.16, 95% CI 1.55-3.01, I = 0%, P < 0.00001), clinical pregnancy rate (OR 2.06, 95% CI 1.52-2.81, I = 0%, P < 0.00001), and implantation rate (OR 1.77, 95% CI 1.35-2.32, I = 0%, P < 0.00001) in women with untreated myomas compared with controls. The number and size of fibroids correlated with a worsening of IVF outcomes.
CONCLUSIONS
FIGO type 3 myomas are significantly associated with a lower implantation rate, cumulative pregnancy rate, and live birth rate. Furthermore, their deleterious effect on the outcome of IVF increases further with increasing size and number. Nevertheless, no firm conclusions could be drawn about the potential benefits of surgery for FIGO type 3 uterine fibroids on IVF outcomes.
Topics: Pregnancy; Humans; Female; Infertility, Female; Fertilization in Vitro; Leiomyoma; Pregnancy Rate; Live Birth; Myoma
PubMed: 37183601
DOI: 10.1002/ijgo.14838 -
International Journal of Molecular... Apr 2023Uterine fibroids are the most common benign tumors in women, with abnormal uterine bleeding (AUB) as the main reported symptom. Additionally, an association between... (Review)
Review
Uterine fibroids are the most common benign tumors in women, with abnormal uterine bleeding (AUB) as the main reported symptom. Additionally, an association between fibroids and infertility has been established, especially if the fibroid protrudes in the uterine cavity. Hormonal therapy is associated with side-effects and as well as hysterectomy, which is incompatible with a desire to conceive. To improve treatment, it is essential to unravel the etiology of fibroid-related symptoms. We aim to evaluate endometrial angiogenesis in women with fibroids, with and without AUB, and the influence of pharmaceutical therapies in these patients. Furthermore, we explore the possible role of altered angiogenesis in patients with fibroids and infertility. We performed a systematic review according to PRISMA-guidelines (PROSPERO: CRD42020169061), and included 15 eligible studies. Endometrial expression of vascular endothelial growth factor (VEGF) and adrenomedullin was increased in patients with fibroids. This suggests aberrant angiogenesis, potentially involving disturbed vessel maturation, resulting in immature and fragile vessels. Treatment with gonadotropin-releasing hormone agonist, ulipristal acetate, and continuous oral contraception pills reduced several angiogenic parameters, including VEGF. If infertile and fertile patients with fibroids were compared, a significant decreased expression of the bone morphogenetic protein/Smad-protein pathway was found, possibly caused by the increased expression of transforming growth factor-beta. For future therapeutic development, these different angiogenic pathways could be of interest as possible targets to treat fibroid-related symptoms.
Topics: Humans; Female; Vascular Endothelial Growth Factor A; Uterine Neoplasms; Leiomyoma; Infertility; Uterine Hemorrhage
PubMed: 37108180
DOI: 10.3390/ijms24087011 -
American Journal of Rhinology & Allergy Sep 2023Leiomyomas are benign smooth muscle tumors that are rarely diagnosed in the nasal cavity and paranasal sinuses. (Review)
Review
BACKGROUND
Leiomyomas are benign smooth muscle tumors that are rarely diagnosed in the nasal cavity and paranasal sinuses.
OBJECTIVE
This systematic review summarizes the histopathologic and clinical tumor characteristics, surgical management, and follow-up of sinonasal leiomyomas.
METHODS
A systematic review of the literature on sinonasal leiomyoma was performed by applying the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Studies that met the inclusion criteria were assessed for level of evidence. Patient demographics, clinical and pathological tumor characteristics, primary intervention, and results of follow-up were evaluated.
RESULTS
Forty studies including 84 patients with sinonasal leiomyoma were identified. The tumor was most often located in the nasal cavity (47/84, 56%) originating from the inferior turbinate (32/84, 38%). Patients mostly presented with symptoms originating from an intranasal mass, including recurrent epistaxis (41/84, 49%), nasal obstruction (43/84, 51.2%), and localized facial or head pain (25/84, 29.8%). Surgery was performed in all cases. An endoscopic approach was most frequently chosen. Recurrence occurred only twice (2.4%). Morbidity was noted in 2 cases (2.4%) following postoperative bleeding and 1 (1.2%) case following a CSF leak.
CONCLUSION
Sinonasal leiomyomas are neoplasms of the smooth muscle manifesting clinically with recurrent epistaxis and nasal obstruction. Management goal is total resection with clear margins to avoid local recurrence.
Topics: Humans; Paranasal Sinus Neoplasms; Nasal Obstruction; Epistaxis; Follow-Up Studies; Leiomyoma; Nose Neoplasms
PubMed: 37093753
DOI: 10.1177/19458924231170464 -
Pediatric and Developmental Pathology :... 2023Rhabdomyosarcoma with rearrangement is a newly introduced spindle cell neoplasm showing predilection for craniofacial bones exhibiting highly aggressive nature and poor... (Meta-Analysis)
Meta-Analysis
Rhabdomyosarcoma with rearrangement is a newly introduced spindle cell neoplasm showing predilection for craniofacial bones exhibiting highly aggressive nature and poor prognosis. Therefore, an attempt was made to delineate the entity for improved understanding and treatment outcomes through comprehensive analysis of the clinicopathological and molecular characteristics. An electronic search was carried out using MEDLINE by PubMed, Scopus, Google scholar, Cochrane library, and EMBASE databases. Original articles and case reports involving intraosseous rhabdomyosarcoma arising in head and neck region with fusion were included. Data were compiled and risk of bias was analyzed using JBI tool. Thirteen eligible articles were included for the quantitative analysis, which revealed 33 cases with fusion. Majority of the affected individuals were females (58%) with mandible being the common site. Most of the patients died within few months after diagnosis demonstrating a low mean survival rate (30 months). Odds ratio, overall survival and disease-free survival were calculated and analyzed statistically concluding that intraosseous rhabdomyosarcomas harboring fusion are found to be novel and dreadful neoplasms. The predilection for young age with poor prognosis exhibited by these lesions demand early diagnosis and specific treatment planning to curtail mortality.
Topics: Female; Humans; Male; Transcription Factors; Rhabdomyosarcoma; Neck; Treatment Outcome; Bone and Bones; DNA-Binding Proteins
PubMed: 37082926
DOI: 10.1177/10935266231165636 -
Cancer Medicine Jul 2023Uterine leiomyosarcoma (uLMS) is an aggressive mesenchymal neoplasm associated with a poor prognosis. Systemic chemotherapy is the standard therapy for patients with... (Meta-Analysis)
Meta-Analysis Review
Uterine leiomyosarcoma (uLMS) is an aggressive mesenchymal neoplasm associated with a poor prognosis. Systemic chemotherapy is the standard therapy for patients with uLMS. However, it is unclear which treatment regimen results in the most favorable clinical outcome. We performed a meta-analysis and meta-regression analysis to assess the efficiency of different treatments received by patients with advanced, metastatic, and relapsing uLMS by evaluating the objective response rate (ORR) and disease control rate (DCR) as primary endpoints. The frequentist random effects meta-analysis model was used to compare the outcomes of different treatment regimens for advanced uLMS. A meta-regression analysis was performed to estimate the association between the study-specific hazard ratios and specific demographic variables. A meta-analysis of 51 reports including 1664 patients was conducted. Among patients who received adjuvant chemotherapy (916 patients; 55%), gemcitabine and docetaxel were the most frequently used drugs. First-line monotherapy with alkylating agents (pooled ORR = 0.48; 95% confidence interval [CI]: 0.44-0.52) and second-line monotherapy with protein kinase inhibitors (pooled ORR = 0.45; 95% CI: 0.39-0.52) resulted in favorable prognoses. The combinations of anthracycline plus alkylating therapy (pooled DCR = 0.74; 95% CI: 0.67-0.79) and of gemcitabine plus docetaxel (pooled DCR = 0.70; 95% CI: 0.63-0.75) showed the greatest benefits when used as first-line and second-line chemotherapies, respectively. Subgroup meta-analysis results revealed that dual-regimen therapies comprising anthracycline plus alkylating therapy and gemcitabine plus docetaxel are practical therapeutic choices for International Federation of Gynecology and Obstetrics stages III-IVb with distant metastases when assessed by computed tomography (p = 0.001). Furthermore, neoadjuvant chemotherapy and local radiotherapy resulted in favorable outcomes for patients with earlier stages of distant relapsed uLMS (p < 0.001). Our findings provide a basis for designing new therapeutic strategies and can potentially guide clinical practice toward better prognoses for uLMS patients with advanced, metastatic, and relapsing disease.
Topics: Female; Humans; Leiomyosarcoma; Docetaxel; Antineoplastic Combined Chemotherapy Protocols; Neoplasm Recurrence, Local; Gemcitabine; Uterine Neoplasms; Proportional Hazards Models; Anthracyclines
PubMed: 37081717
DOI: 10.1002/cam4.5930 -
Diagnostic Pathology Mar 2023Epithelioid and spindle rhabdomyosarcoma (ES-RMS) with TFCP2 rearrangement is a recently discovered rare variant of rhabdomyosarcoma composed of epithelioid and spindle...
BACKGROUND
Epithelioid and spindle rhabdomyosarcoma (ES-RMS) with TFCP2 rearrangement is a recently discovered rare variant of rhabdomyosarcoma composed of epithelioid and spindle cells, because it shows extraordinarily adverse prognosis and is easily misdiagnosed as other epithelioid or spindle cell tumors.
METHODS
A rare case of ES-RMS with TFCP2 rearrangement was presented and English literatures in Pubmed online up to 01 July 2022 were gathered by two authors for a systematic review according to the inclusion and exclusion criteria.
CASE PRESENTATION/RESULTS
We report a case of ES-RMS in an early 30s-years-old female, the neoplastic cells are remarkably immunoreactive with CK(AE1/AE3), and partially with ALK protein. Unexpectedly, the tumor shows TFCP2 rearrangement with coexistence of increased copy numbers of EWSR1 and ROS1 gene and MET gene mutation. Besides, Next-generation sequencing for genetic mutational profiling revealed frequent MET exon14 mutations in chromosome 7, most of which are C > T nonsynonymous SNV, and exon42 of ROS1 in chromosome 6 showed frequent G > T mutation up to 57.54%. In addition, neither MyoD1 mutation nor gene fusions were detected. Moreover, the patient shows high tumor mutational burden (TMB) up to 14.11 counts/Mb. Finally, as many cases of ES-RMS including our case had local progression or metastasis, we find, similar to epithelioid rhabdomyosarcoma (median survival time is 10 month), ES-RMS shows a more aggressive behavior and adverse prognosis (median survival time is 17 month) than spindle cell/sclerosing rhabdomyosarcoma (median survival time is 65 month) according previous studies.
CONCLUSIONS
ES-RMS with TFCP2 rearrangement is a rare malignant tumor and easily confused with other epithelioid or spindle cell tumors, it may harbor additional gene alteration in addition to TFCP2 rearrangement, such as MET mutation, increased copy numbers of EWSR1 and ROS1 gene, high TMB. Most importantly, it may show very poor outcome with extensive metastasis.
Topics: Humans; Female; Adult; Abdominal Wall; Protein-Tyrosine Kinases; Proto-Oncogene Proteins; Transcription Factors; Rhabdomyosarcoma; Prognosis; Biomarkers, Tumor; DNA-Binding Proteins
PubMed: 36998041
DOI: 10.1186/s13000-023-01330-y -
British Journal of Cancer Jun 2023Costello syndrome (CS) is a cancer-predisposition disorder caused by germline pathogenic variants in HRAS. We conducted a systematic review using case reports and case... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Costello syndrome (CS) is a cancer-predisposition disorder caused by germline pathogenic variants in HRAS. We conducted a systematic review using case reports and case series to characterise cancer risk in CS.
METHODS
We conducted a systematic review to identify CS cases to create a retrospective cohort. We tested genotype-phenotype correlations and calculated cumulative incidence and hazard rates (HR) for cancer and cancer-free death, standardised incidence rates (SIR) and survival after cancer.
RESULTS
This study includes 234 publications reporting 621 patients from 35 countries. Over nine percent had cancer, including rhabdomyosarcoma, bladder, and neuroblastoma. The rate of cancer and death associated with p.Gly12Ser were lower when compared to all other variants (P < 0.05). Higher mortality for p.Gly12Cys, p.Gly12Asp, p.Gly12Val and p.Gly60Val and higher malignancy rate for p.Gly12Ala were confirmed (P < 0.05). Cumulative incidence by age 20 was 13% (cancer) and 11% (cancer-free death). HR (death) was 3-4% until age 3. Statistically significant SIRs were found for rhabdomyosarcoma (SIR = 1240), bladder (SIR = 1971), and neuroblastoma (SIR = 60). Survival after cancer appeared reduced.
CONCLUSIONS
This is the largest investigation of cancer in CS to date. The high incidence and SIR values found to highlight the need for rigorous surveillance and evidence-based guidelines for this high-risk population.
Topics: Humans; Costello Syndrome; Retrospective Studies; Genotype; Rhabdomyosarcoma; Neuroblastoma
PubMed: 36966234
DOI: 10.1038/s41416-023-02229-7 -
International Journal of Environmental... Mar 2023Novel treatment options for uterine fibroids, such as uterine artery embolization (UAE), ultrasound-guided and magnetic resonance-guided high-intensity focused... (Meta-Analysis)
Meta-Analysis Review
Novel treatment options for uterine fibroids, such as uterine artery embolization (UAE), ultrasound-guided and magnetic resonance-guided high-intensity focused ultrasound (USgHIFU and MRgHIFU), and transcervical radiofrequency ablation (TFA) methods, are widely used in clinical practice. This systematic review and meta-analysis (CRD42022297312) aims to assess and compare reproductive and obstetric outcomes in women who underwent these minimally invasive approaches for uterine fibroids. The search was performed in PubMed, Google Scholar, ScienceDirect, Cochrane Library, Scopus, Web of Science and Embase. Risk of bias was assessed using the Newcastle-Ottawa Scale (NOS) and Cochrane guidelines. The articles were selected to meet the following eligibility criteria: (1) research article, (2) human subject research, and (3) the study of pregnancy outcomes after the treatment of uterine fibroids by either one of three methods-UAE, HIFU, and TFA. The analysis of 25 eligible original articles shows a similar rate of live births for UAE, USgHIFU, MRgHIFU, and TFA (70.8%, 73.5%, 70%, and 75%, respectively). The number of pregnancies varied considerably among these studies, as well as the mean age of pregnant women. However, the results of pregnancy outcomes for TFA are insufficient to draw firm conclusions, since only 24 women became pregnant in these studies, resulting in three live births. The miscarriage rate was highest in the UAE group (19.2%). USgHIFU was associated with a higher rate of placental abnormalities compared to UAE (2.8% vs. 1.6%). The pooled estimate of pregnancies was 17.31% to 44.52% after UAE, 18.69% to 78.53% after HIFU, and 2.09% to 7.63% after TFA. The available evidence confirmed that these minimally invasive uterine-sparing treatment options for uterine fibroids are a good approach for patients wishing to preserve their fertility, with comparable reproductive and obstetric outcomes among the different techniques.
Topics: Female; Humans; Pregnancy; Uterine Neoplasms; Uterine Artery Embolization; Treatment Outcome; Placenta; Leiomyoma
PubMed: 36901489
DOI: 10.3390/ijerph20054480 -
Obstetrics and Gynecology Apr 2023To evaluate the risk of recurrence and reintervention after uterine-sparing treatment options for symptomatic adenomyosis, including adenomyomectomy, uterine artery... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To evaluate the risk of recurrence and reintervention after uterine-sparing treatment options for symptomatic adenomyosis, including adenomyomectomy, uterine artery embolization (UAE), and image-guided thermal ablation.
DATA SOURCES
We searched electronic databases such as Web of Science, MEDLINE, Cochrane Library, EMBASE, ClinicalTrials.gov , and Google Scholar from January 2000 to January 2022. The search was conducted using the following search terms: "adenomyosis," "recurrence," "reintervention," "relapse," and "recur."
METHODS OF STUDY SELECTION
All studies that described the risk of recurrence or reintervention after uterine-sparing interventions for symptomatic adenomyosis were reviewed and screened according to the eligibility criteria. Recurrence was defined as the reappearance of symptoms (painful menses or heavy menstrual bleeding) after significant or complete remission, or the reappearance of adenomyotic lesions confirmed by ultrasonography or magnetic resonance imaging.
TABULATION, INTEGRATION, AND RESULTS
The outcome measures were presented as the frequency with percentage and pooled with 95% CI. A total of 42 studies (single-arm retrospective and prospective studies) that represented 5,877 patients were included. The recurrence rates after adenomyomectomy, UAE, and image-guided thermal ablation were 12.6% (95% CI 8.9-16.4%), 29.5% (95% CI 17.4-41.5%), and 10.0% (95% CI 5.6-14.4%), respectively. The reintervention rates were 2.6% (95% CI 0.9-4.3%), 12.8% (95% CI 7.2-18.4%), and 8.2% (95% CI 4.6-11.9%) after adenomyomectomy, UAE, and image-guided thermal ablation, respectively. Subgroup analysis and sensitivity analysis were performed, and the heterogeneity was reduced in several analyses.
CONCLUSION
Uterine-sparing techniques were successful in treating adenomyosis with low reintervention rates. Uterine artery embolization had higher recurrence and reintervention rates than other techniques; however, patients treated with UAE had larger uteri and larger adenomyosis, indicating that selection bias may influence these results. More randomized controlled trials with a larger population are needed in the future.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO, CRD42021261289.
Topics: Female; Humans; Adenomyosis; Uterine Neoplasms; Leiomyoma; Retrospective Studies; Prospective Studies; Neoplasm Recurrence, Local; Uterus; Uterine Artery Embolization; Treatment Outcome
PubMed: 36897132
DOI: 10.1097/AOG.0000000000005080