Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC).

PURPOSE: To determine the cost-effectiveness of annual renal imaging surveillance (RIS) in hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC is associated with a 21% risk to age 70 years of RCC. Presentations with advanced renal cell cancer (RCC) are associated with poor outcomes whereas RIS detects early-stage RCC; however, evidence for the cost-effectiveness of RIS is lacking. METHODS: We developed a decision-analytic model to compare, at different age starting points (11 years, 18 years, 40 years, 60 years), the costs and benefits of lifetime contrast-enhanced renal MRI surveillance (CERMRIS) vs no surveillance in HLRCC. Benefits were measured in life-years gained (LYG), quality-adjusted life years (QALYs) and costs in British Pounds Sterling (GBP). Net monetary benefit (NMB) was calculated using a cost-effectiveness threshold of £20 000/QALY. One-way sensitivity and probabilistic analyses were also performed. RESULTS: In the base-case 11-year age cohort, surveillance was cost-effective (Incremental_NMB=£3522 (95% CI -£2747 to £7652); Incremental_LYG=1.25 (95% CI 0.30 to 1.86); Incremental_QALYs=0.29 (95% CI 0.07 to 0.43)] at an additional mean discounted cost of £2185/patient (95% CI £430 to £4144). Surveillance was also cost-effective in other age cohorts and dominated a no surveillance strategy in the 40 year cohort [Incremental_NMB=£12 655 (95% CIs -£709 to £21 134); Incremental_LYG=1.52 (95% CI 0.30 to 2.26); Incremental_QALYs=0.58 (95% CI 0.12 to 0.87) with a cost saving of £965/patient (95% CI -£4202 to £2652). CONCLUSION: Annual CERMRI in HLRCC is cost-effective across age groups modelled.

Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.

BACKGROUND: Germline variants in fumarate hydratase (FH) are associated with autosomal dominant (AD) hereditary leiomyomatosis and renal cell cancer (HLRCC) and autosomal recessive (AR) fumarase deficiency (FMRD). The prevalence and cancer penetrance across different FH variants remain unclear. METHODS: A database containing 120,061 records from individuals undergoing cancer germline testing was obtained. FH variants were classified into 3 categories: AD HLRCC variants, AR FMRD variants, and variants of unknown significance (VUSs). Individuals with variants from these categories were compared with those with negative genetic testing. RESULTS: FH variants were detected in 1.3% of individuals (AD HLRCC, 0.3%; AR FMRD, 0.4%; VUS, 0.6%). The rate of AD HLRCC variants discovered among reportedly asymptomatic individuals without a clear indication for HLRCC testing was 1 in 2668 (0.04%). In comparison with those with negative genetic testing, the renal cell carcinoma (RCC) prevalence was elevated with AD HLRCC variants (17.0% vs 4.5%; P < .01) and VUSs (6.4% vs 4.5%; P = .02) but not with AR FMRD variants. CONCLUSIONS: The prevalence of HLRCC discovered incidentally on germline testing is similar to recent population carrier estimates, and this suggests that this is a relatively common cancer syndrome. Compared with those with negative genetic testing, those with VUSs had an elevated risk of RCC, whereas those with AR FMRD variants did not.

Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.

BACKGROUND: Hereditary leiomyomatosis and renal cancer (HLRCC) is a cancer syndrome associated with a germline mutation in fumarate hydratase (FH). The syndrome is associated with cutaneous and uterine leiomyomas, and some patients develop a lethal form of kidney cancer. This study provides estimates for the FH carrier frequency and kidney cancer penetrance. METHODS: Data sets containing sequencing data for the FH gene were used: the 1000 Genomes Project (1000GP) and the Exome Aggregation Consortium (ExAC). Alterations in the FH gene were characterized on the basis of different variant risk tiers: 1) ClinVar annotated variants, 2) loss-of-function alterations, and 3) highly impactful missense alterations. The cumulative incidence of FH alterations overall and by different world populations was evaluated in 1000GP and ExAC. A lifetime penetrance of HLRCC kidney cancer risk was generated with 3 estimates of the annual incidence. RESULTS: The overall allele frequencies of tier 1 to 3 FH alterations in the ExAC and 1000GP data sets were 2.54 × 10-3 (1 in 393) and 1.20 × 10-3 (1 in 835), respectively. There were differences in the allele frequencies of FH alterations between world populations. Based on various estimates of the percentage of kidney cancers with FH alterations, the lifetime kidney cancer penetrance for carrier estimate 3 in ExAC was 1.7% to 5.8%. CONCLUSIONS: FH alterations are common and are carried by approximately 1 in 1000 individuals according to the more conservative estimates. The lifetime kidney cancer penetrance appears lower than previously estimated. Although databases are not population cohorts, they provide a useful quantitative estimate of rare variants with low penetrance.

Non-malignant Sequelae after Unconfined Power Morcellation.

STUDY OBJECTIVE: To identify the incidence of repeat surgery and subsequent findings after the performance of unconfined uterine power morcellation. DESIGN: A retrospective descriptive study (Canadian Task Force classification II-2). SETTING: Southern California Kaiser Permanente Medical Centers. PATIENTS: Women (N = 5154) who underwent laparoscopic supracervical hysterectomy with unconfined power morcellation. MEASUREMENTS AND MAIN RESULTS: Of the 5154 cases, 279 (5.41%) underwent subsequent reoperation with a median of 24 months after index surgery. The most common clinical complaint leading to laparoscopic supracervical hysterectomy was symptomatic leiomyoma (n = 135, 48.4%) and abnormal uterine bleeding (n = 94, 33.7%). The most common indication for reoperation was a symptomatic adnexal mass (n = 87, 31.2%) followed by pelvic pain (n = 83, 29.7%). The majority (n = 128, 60.4%) of subsequent non-urogynecologic-related reoperations resulted in benign pathology. Endometriosis was the primary pathologic diagnosis in 65 of 279 (23.3%) of the reoperative cases; this was not previously documented in 86% (n = 57/65) of these cases. The overall frequency of subsequent pathology was endometriosis (65/5154, 1.26%), disseminated leiomyomatosis (18/5154, 0.35%), and new malignancy (11/5154, 0.21%). CONCLUSION: Morcellation of nonmalignant tissue is not without consequence. Pathology confirmed endometriosis was documented for the first time in 20.4% of patients who underwent a second surgery. This finding raises the suspicion that morcellation and dispersion of the uterine specimen may be associated in the development of endometriosis.

Successful Pregnancies in Women with Diffuse Uterine Leiomyomatosis after Hysteroscopic Management Using the Hysteroscopy Endo Operative System.

STUDY OBJECTIVE: To evaluate the feasibility, effectiveness, and reproductive outcome of hysteroscopic management using the Hysteroscopy Endo Operative system (HEOS) in patients with diffuse uterine leiomyomatosis (DUL). DESIGN: Retrospective study (Canadian Task Force classification III). SETTING: Beijing Tiantan Hospital, Capital Medical University, Beijing, China. PATIENTS: Eight women of reproductive age suffering from menorrhagia and anemia or infertility diagnosed with DUL by ultrasonography and hysteroscopy. INTERVENTIONS: Hysteroscopic surgery using cold graspers combined with electric loop by the HEOS was performed to excise submucous myomas (including types 0, I, and II), leaving other intramural myomas in place. The fenestration method is used in electrical hysteroscopic myomectomy. Postoperative endometrial repair and synechiae, menstrual improvement, conception, and pregnancy were recorded. MEASUREMENTS AND MAIN RESULTS: Two patients underwent a single hysteroscopic myomectomy, whereas 6 patients underwent 2 to 3 myomectomies. No complications were observed. The mean follow-up period was 39.13 ± 17.01 months (range, 21-67). The endometrium recovered 2 to 3 months after the initial surgery, and 100% improvement in menstruation was observed. Two patients had mild synechia after the first hysteroscopic surgery. Seven patients conceived spontaneously (postoperative pregnancy rate, 87.5%), 6 of whom had a full-term pregnancy. One patient suffered a miscarriage in the second trimester (live birth rate, 75%). CONCLUSION: Hysteroscopic surgery using cold graspers combined with electric loop by the HEOS is a feasible and effective for treatment of DUL because it preserves the uterus and yields favorable reproductive outcomes. The cold surgery and fenestration method minimizes electrical and thermal damage to the endometrium surrounding the myoma, consequently reducing surgical risks.

The association between ultrasound-estimated visceral fat deposition and uterine fibroids: an observational study.

Uterine fibroids are the most common neoplasm of the genital tract in reproductive women. Obesity holds a role as risk factor for uterine fibroids, through hormonal and inflammatory mechanisms. Visceral fat is a hormonally active tissue, so an increase in visceral fat may be considered as a risk factor, through the increased production of inflammatory mediators. The aim of the study was, therefore, to evaluate the association between the presence of uterine fibroids and fat tissue distribution, and to assess the efficacy of both anthropometric and instrumental indicators, in particular the sonographic measurement of preperitoneal fat thickness (PFT) and subcutaneous fat thickness (SFT). Study group consisted of childbearing-age women with at least one uterine fibroid with a diameter ≥10 mm (n = 71), all the childbearing-age women who access to the outpatient service of our institution in the same period, without evidence of uterine fibroids, constituted the control group (n = 145). A significantly difference in BMI (p = 0.0034), PFT (p < 0.0001), and SFT (p = 0.0003) emerged. At the multivariate analysis, only PFT showed an independent significant association with the presence of uterine fibroids (p < 0.0001). The ROC curve analysis identified a cut-off value of 6.7 mm of PFT as discriminator for the presence of uterine fibroids.

Parasitic leiomyomas after laparoscopic surgery with morcellation.

Parasitic leiomyomas after laparoscopic surgery with morcellation are a rare entity, and only a few small series and single case reports have been published in recent years. This was first known as a spontaneously occuring condition, but in recent years it has been observed more frequently as an iatrogenic condition after morcellation, and may occur several years after primary surgery. We present three patients diagnosed in an eight year period, representing an incidence of 0.12% after morcellation procedures in our department. The mechanisms leading to parasitic leiomyomas are discussed, as well as how we should minimize the risk of development of this rare condition.

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.

BACKGROUND: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome characterised by predisposition to cutaneous and uterine leiomyomata and renal cell carcinoma (RCC). OBJECTIVE: To define the clinical findings, molecular genetics, and prognosis in a cohort of 69 families with a fumarate hydratase (FH) pathogenic variant and/or clinical features of HLRCC. DESIGN, SETTING, AND PARTICIPANTS: Clinical and molecular findings were obtained for 185 individuals from 69 families from four UK regional genetics clinics. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Ages at confirmed diagnoses, last dates of follow-up, and molecular results were attained for probands and relatives. To study the effect of potential ascertainment bias, phenotypes of probands and their affected relatives were compared. RESULTS AND LIMITATIONS: A germline FH variant (19 novel and 21 known, >50% missense variants) was identified in 68/69 probands and 90 relatives. Cutaneous leiomyomata occurred in 90/185 (48.6%) individuals (mean age 45.9 yr) and uterine leiomyomata in 33/107 (30.8%) females (mean age 35.0 yr). Of 185 individuals, 23 (12.4%) had a confirmed renal tumour, and histopathology where known (n = 18) was variable: seven clear cell RCCs, nine papillary RCCs (six of type 2), one collecting duct tumour, and one tumour with oncocytic cystic morphology. Mean age at symptomatic RCC diagnosis was 44.0 yr and median survival was 21.0 mo. Eighty-one individuals underwent 187 renal imaging surveillance scans; three stage 1 RCCs were detected. Mean survival of individuals diagnosed with stage 1/2 RCC was significantly longer than those diagnosed with stage 3/4 RCC (p = 0.0004). CONCLUSIONS: Management of HLRCC is challenging as RCC occurs in a minority of cases but is highly aggressive. This large multicentre series has identified novel features and evidence that renal screening in HLRCC detects early-stage RCCs. PATIENT SUMMARY: We show that hereditary leiomyomatosis and renal cell cancer is associated with a 21% lifetime risk of renal cell carcinoma (RCC; 95% confidence interval 8.2-37.1), and renal imaging screening detects early-stage RCC.

PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.

PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years. DICER1 syndrome includes risk for pleuropulmonary blastoma, cystic nephroma, ovarian sex cord-stromal tumors, and multinodular goiter and thyroid carcinoma as well as brain tumors including pineoblastoma and pituitary blastoma. Individuals with HLRCC may develop multiple cutaneous and uterine leiomyomas, and they have an elevated risk of renal cell carcinoma. For each of these syndromes, a summary of the key syndromic features is provided, the underlying genetic events are discussed, and specific screening is recommended. Clin Cancer Res; 23(12); e76-e82. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.

Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome.

OBJECTIVE: To investigate the clinical features of the multiple cutaneous and uterine leiomyomatosis (MCUL) syndrome, including the hereditary leiomyomatosis and renal cell cancer syndrome. DESIGN: A case series of patients with multiple skin leiomyomas solicited via a circular letter to dermatologists. SETTING: Research institute. PATIENTS: A total of 108 affected individuals, including 46 probands and 62 affected relatives. MAIN OUTCOME MEASURES: The proportion of probands with underlying fumarate hydratase (FH) mutations, the penetrance of FH mutations, and clinicopathologic features of MCUL. RESULTS: Forty-one (89%) of 46 probands with multiple skin leiomyomas had evidence of germline FH mutations, which were highly penetrant. All 26 male mutation carriers had skin leiomyomas. Of 67 women with FH mutations, 46 (69%) had both skin and uterine leiomyomas; 10 (15%) had only skin leiomyomas; 5 (7%) had only uterine leiomyomas; and 6 (9%) were clinically unaffected. Patients presented with skin leiomyomas at a mean age of 24 years and had a mean of 25 lesions. Forty-one individuals (89%) reported painful lesions, particularly in response to cold or trauma. Fibroids were histologically unremarkable, highly symptomatic, and associated with a high risk of early hysterectomy. One individual had a very aggressive collecting duct renal cancer. The G354R FH mutation predisposed patients to uterine fibroids without skin leiomyomas (P = .03). Many patients with skin leiomyomas had not previously presented for medical attention. Fibroids were rarely recognized as cases of MCUL. CONCLUSIONS: Highly penetrant FH mutations underlie MCUL. Increased clinical awareness is important because of the associated risk of severe uterine fibroids and, in some cases, aggressive renal cancer.

Leiomyomatosis peritonealis disseminata. A report of two cases.

Leiomyomatosis peritonealis disseminata (LPD), also known as diffuse peritoneal leiomyomatosis, is characterized by the presence of multiple, small nodules scattered over the abdominopelvic viscera and peritoneum. These nodules are composed of benign smooth muscle cells. As shown in this report of two cases, the disorder occurs mostly in women of reproductive age and rarely in postmenopausal ones. LPD is a benign condition for which conservative management is indicated.

Estrogen and progesterone expression of vessel walls with intravascular leiomyomatosis; discussion of histogenesis.

We report seven cases of intravenous leiomyomatosis. Growth beyond the uterus occurred in two of the seven cases in the broad ligament. One 21-year-old patient is one of the youngest reported cases in the literature. Five patients had total abdominal hysterectomy with removal of the adnexa and two patients underwent myomectomy. One of the myomectomy cases had abdominal hysterectomy and bilateral salpingo-oophorectomy one year later due to recurrence. The other one was disease free six months after the operation. Vessel walls harboring intravascular tumor were investigated immunohistochemically for Factor VIII, CD 34, estrogen and progesterone receptors with the hope of making the histogenesis of intravenous leiomyomatosis clear. Immunohistochemical analyses of estrogen receptors, progesterone receptors, vimentin, desmin, smooth muscle actin, CD 10 and h-caldesmon were performed on intravascular tumor cells. Endothelial and subendothelial cells expressed none to scant, very weak progesterone and estrogen receptor positivity. Intravascular tumor cells showed weak (10%) to strong (70%) progesterone receptor positivity and weak (10%) to strong (60%) estrogen receptor positivity. These results do not support the hypothesis of a vessel wall origin for intravenous leiomyomatosis.

Esophageal leiomyomatosis in children: report of a case and review of the literature.

The authors describe a case of a 5-years-old girl affected by diffuse oesophageal leiomyomatosis presenting with progressive dysphagia, cyanosis, recurrent pneumonia and retrosternal pain. She also suffered from occasional constipation due to perineal involvement by the disease and had a past history of recurrent microscopic hematuria, suggesting an association with an Alport-like syndrome. Only 24 cases of esophageal leiomyomatosis could be found in the medical literature in children aged less than 14 years, confirming the rarity of the disease. A clinical analysis of all cases reviewed from the literature is made, stressing the importance of an accurate preoperative diagnosis for the choice of proper surgical treatment to avoid recurrence.

Effect of corporal fibroids on outcome following embryo transfer in donor-oocyte recipients.

PURPOSE: To evaluate the effect of intramural or subserosal fibroids in the uterine fundus or corpus on pregnancy outcome following transfer of embryos formed from donated oocytes methods. METHODS: Leiomyomata were measured in three dimensions by transvaginal sonography. Scanning was performed in two planes (sagittal and coronal) at the level of maximal width. The location was categorized by depth in the uterus. RESULTS: There was no difference in pregnancy rates in those with or without fibroids. However, there was a significantly higher miscarriage rate in the former group. CONCLUSION: Women with fibroids are generally older. Thus conclusions about the effect on miscarriage rates are complicated by the effect of the aging oocyte on miscarriages. This study eliminated the oocyte factor by using only younger donated oocytes.

Clinical and ultrasonographic implications of uterine leiomyomatosis in pregnancy.

OBJECTIVE: To study the complications related to leiomyomatosis in pregnancy by clinical and ultrasonographic assessment. DESIGN: A retrospective study. SUBJECTS: All pregnancies admitted to the 2nd Institute of Gynecology and Obstetrics, Policlinico Umberto I, in the period between January 1992 to December 1993 were surveyed. RESULTS: Gestational age at the time of ultrasonographic neoplasm diagnosis was 25.1 +/- 13.4 weeks, 'we found no correlation between maternal age or parity affecting pregnancy outcome, Leiomyomatosis complicated pregnancy rate was 1.68%. Myomatosis was diagnosed clinically in 25 of 67 cases (37.3%). Regarding the location of the neoplasm, 59% was located in the corpus-uteri, 21% was considered a diffuse neoplasm and the 14% was located in the fundus. Threatened abortion was the most frequent complication (20%), abortion was the second (16.4%). We observed an increased abortion threat rate (p < 0.001) in those cases where the leiomyoma was in relation with the placenta. We had a surgery rate of 76% in pregnancies complicated by myomatosis, and the indication for surgery was given either primarily or exclusively by the presence of myomatous formation in 19 cases (50%). CONCLUSIONS: Our study suggests that location of the leiomyoma in relation to the placenta is a higher risk factor than its size, and that there is a higher risk for threats of abortion and abortion rates in pregnancies complicated by leiomyomatosis. We recommend that every pregnant woman with a suspected myoma should be ultrasonographically scanned.

Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC).

Hereditary leiomyomatosis-renal cell cancer (HLRCC) is an autosomal dominant disorder characterised by cutaneous leiomyomas, symptomatic uterine leiomyomas and aggressive type II papillary renal cell carcinoma. It is caused by heterozygous mutations in the fumarate hydratase (FH) gene on chromosome 1q43. We present evidence of genetic anticipation in HLRCC syndrome. A comprehensive literature review was performed to determine the potential for genetic anticipation in HLRCC syndrome. The normal random effects model was used to evaluate for genetic anticipation to ensure reduction in bias. A total of 11 FH kindreds with available multi-generational data were identified for analysis. The mean difference in age at diagnosis of RCC between the first and second generation was -18.6 years (95 % CI -26.6 to -10.6, p < 0.001). The mean difference in age at diagnosis of RCC between the first and third generation was -36.2 years (95 % CI -47.0 to -25.4, p < 0.001). No evidence of anticipation for uterine leiomyomas was observed (p = 0.349). We report preliminary evidence of genetic anticipation of RCC in HLRCC syndrome. Additional clinical validation is important to confirm this observation, which may have practical implications on counseling and timing of surveillance initiation. Exploration of the underlying mechanisms of anticipation in HLRCC would be of considerable biological interest.

Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.

Uterine leiomyomas (uterine fibroids) arise from smooth muscle tissue in the majority of women by age 45. It is common for these clonal tumors to develop from multiple locations within the uterus, leading to a variety of symptoms such as pelvic pain, abnormal uterine bleeding, and infertility. We performed whole exome sequencing on genomic DNA from five pairs of leiomyomas and corresponding normal myometrium to determine genetic variations unique to leiomyomas. Whole exome sequencing revealed that the gene encoding transcription factor MED12 (Mediator complex subunit 12) harbored heterozygous missense mutations caused by single nucleotide variants in highly conserved codon 44 of exon 2 in two of five leiomyomas. Sanger re-sequencing of MED12 among these five leiomyomas confirmed the two single nucleotide variants and detected a 42 base-pair deletion within exon 2 of MED12 in a third leiomyoma. MED12 was sequenced in an additional 143 leiomyomas and 73 normal myometrial tissues. Overall, MED12 was mutated in 100/148 (67%) of the genotyped leiomyomas: 79/148 (53%) leiomyomas exhibited heterozygous missense single nucleotide variants, 17/148 (11%) leiomyomas exhibited heterozygous in-frame deletions/insertion-deletions, 2/148 (1%) leiomyomas exhibited intronic heterozygous single nucleotide variants affecting splicing, and 2/148 (1%) leiomyomas exhibited heterozygous deletions/insertion-deletions spanning the intron 1-exon 2 boundary which affected the splice acceptor site. Mutations were not detected in MED12 in normal myometrial tissue. MED12 mutations were equally distributed among karyotypically normal and abnormal uterine leiomyomas and were identified in leiomyomas from both black and white American women. Our studies show an association between MED12 mutations and leiomyomas in ethnically and racially diverse American women.

Uterine artery embolization (UAE) for diffuse leiomyomatosis of the uterus: clinical and imaging results.

PURPOSE: The aim of the current study was to evaluate the efficacy of uterine artery embolization (UAE) in the management of diffuse uterine leiomyomatosis with mid-term follow-up. MATERIALS AND METHODS: All patients who underwent UAE between 2008 and 2010 for symptomatic fibroids were analyzed. Among 360 cases, a total of 7 patients with diffuse uterine leiomyomatosis diagnosed based on MRI were included in this retrospective study. Patient ages ranged from 29 to 38 (mean 32.7) years. The median follow-up period was 16 (range; 6-31) months. The embolic agent was non-spherical polyvinyl alcohol particles. All patients underwent follow-up MRI at 3 months after UAE. Uterine volumes were calculated using MRI. Menorrhagia symptom changes were assessed at mid-term follow-up. RESULTS: There were no technical failures to catheterize the uterine artery and no adverse events requiring therapy after UAE. Contrast-enhanced MRI showed complete necrosis of the leiomyomatous nodules in 5 patients (71%) 3 months after embolization. Two patients (28%) showed mostly leiomyomatous nodules that were necrotized, some of which were still viable. All 7 patients with menorrhagia had improvement of symptoms at the mid-term follow-up. The initial mean uterine volume was 601.30 ± 533.92 cm(3) and was decreased to a mean of 278.81 ± 202.70 cm(3) at 3 months follow-up, for a mean uterus volume reduction rate of 50.1% (p<0.05). One patient became pregnant 5 months after UAE treatment. CONCLUSION: UAE was a highly effective treatment for diffuse uterine leiomyomatosis with mid-term durability and may be a valuable alternative to hysterectomy.

Neonatal outcomes in women with sonographically identified uterine leiomyomata.

OBJECTIVE: We sought to compare perinatal outcomes between women with and without leiomyomata. STUDY DESIGN: This is a retrospective cohort study comparing neonatal outcomes in women with and without uterine leiomyomata discovered at routine second trimester obstetric ultrasonography, all of whom delivered at a single institution. Potential confounders such as maternal age, parity, race, ethnicity, medical insurance, previous uterine surgery, fetal presentation, length of labor, mode of delivery, presence of placenta previa, placental abruption, chorioamnionitis, and epidural use were controlled for using multivariable logistic regression. RESULTS: From 1993 to 2003, 15,104 women underwent routine second trimester prenatal ultrasonography, with 401 (2.7%) women identified with at least one leiomyoma. By univariate and multivariable analyses, the presence of leiomyomata was associated with statistically significant increased risks for preterm delivery at <34 weeks [adjusted odds ratio (AOR) 1.7, 95% confidence interval (CI) 1.1-2.6], <32 weeks (AOR 1.9, 95% CI 1.2-3.2), and <28 weeks (AOR 2.0, 95% CI 1.1-3.8). An association with increased risk for intrauterine fetal demise (IUFD) was also demonstrated (AOR 2.7, 95% CI 1.0-6.9). When IUFD was examined before and after 32 weeks' gestation, the finding only persisted at earlier gestational ages (<32 weeks: AOR 4.2, 95% CI 1.2-14.7 vs. >32 weeks: AOR 0.82, 95% CI 0.1-6.2). CONCLUSION: Regardless of maternal age, ethnicity, and parity, pregnant women with leiomyomata are at increased risk for preterm birth and IUFD. This did not translate to lower birth weight outcomes among term patients, suggesting that LBW is more likely due to preterm birth than growth restriction. These results may be useful for preconception and prenatal counseling of women with leiomyomata.