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Uterine leiomyoma invading internal iliac vein and consequently disseminating into the right atrium is an extremely rare condition, and surgical strategy is controversial. Here, we reported a specific case with successful surgical resection through one-stage total hysterectomy, bilateral oophorectomy, and the intracardiovascular lesion. This procedure would be an optimal choice for uterine leiomyoma invading inferior vena cava and spreading to right atrium., (© 2024. The Author(s).)

Background: Intravenous leiomyomatosis (IVL), pulmonary benign metastatic leiomyomatosis (PBML), and leiomyomatosis peritonealis disseminata (LPD) are leiomyomas with special growth patterns and high postoperative recurrence rates. We report the safety and efficacy of a pilot study of sirolimus in the treatment of recurrent IVL, PBML, and recurrent LPD., Methods: This was a pilot study to evaluate the safety and efficacy of sirolimus in the treatment of leiomyomatosis (ClinicalTrials.gov identifier NCT03500367) conducted in China. Patients received oral sirolimus 2 mg once a day for a maximum of 60 months or until disease progression, intolerable toxicity, withdrawal of consent, or investigator decision to stop. The primary end point of this study was the objective response rate. Secondary end points included safety and tolerability, disease control rate, and progression-free survival., Results: A total of 15 patients with leiomyomatosis were included in the study, including five with recurrent IVL, eight with PBML and two with recurrent LPD. The median follow-up time was 15 months (range 6-54 months), nine patients (60%) had treatment-related adverse events (including all levels), and two patients had treatment-related grade 3 or 4 adverse events. The objective response rate was 20.0% (95% CI, 7.1-45.2%), and the disease control rate was 86.7% (95% CI, 62.1-96.3%). Partial response was achieved in three patients. The median response time in the three partial response patients was 33 months (range 29-36 months), and the sustained remission time of these three patients reached 0, 18, and 25 months, respectively., Conclusions: Sirolimus was safe and effective in the treatment of recurrent IVL, PBML, and recurrent LPD., Trial Registration: ClinicalTrials.gov identifier NCT03500367. Registered on 18 April 2018., (© 2024. The Author(s).)

To date, over 200 families with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and over 600 families with Birt-Hogg-Dubé (BHD) syndrome have been reported, with low incidence. Here, we describe a patient with suspected rare HLRCC complicated by BHD syndrome. The proband (II1) had characteristic cutaneous leiomyoma-like protrusions on the neck and back, a left renal mass and multiple right renal, liver and bilateral lung cysts. Three family members (I1, II2, II3) had a history of renal cancer and several of the aforementioned clinical features. Two family members (II1, II3) diagnosed with fumarate hydratase (FH)-deficient papillary RCC via pathological biopsy carried two heterozygous variants: FH (NM_000143.3) missense mutation c.1189G>A (p.Gly397Arg) and FLCN (NM_144997.5) frameshift mutation c.1579_1580insA (p.Arg527Glnfs*75). No family member carrying a single variant had renal tumours. In HEK293T cells transfected with mutant vectors, mRNA and protein expression after FLCN p.Arg527Glnfs*75 and FH p.Gly397Arg mutations were significantly lower than those in wild-type (WT) cells. Cell immunofluorescence showed altered protein localisation and reduced protein expression after FLCN p.Arg527Glnfs*75 mutation. The FH WT was uniformly distributed in the cytoplasm, whereas FH protein expression was reduced after the p.Gly397Arg mutation and scattered sporadically with altered cell localisation. Patients with two variants may have a significantly increased penetrance of RCC., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

BACKGROUND Intravenous leiomyomatosis (IVL) is a rare benign smooth muscle tumor originating in the uterus or in the uterine vessels. It is characterized by continuous intraluminal growth that may extend through iliac veins and inferior vena cava (IVC) to right chambers of the heart and pulmonary vasculature, leading to life-threatening complications. This case report describes an uncommon cause of non-thrombotic pulmonary embolism in young woman caused by extensive IVL. CASE REPORT A 39-year-old woman was admitted after multiple syncopal episodes. She was initially found to have a bilateral pulmonary embolism and large right atrial mass believed to be a thrombus. After an unsuccessful attempt to remove the thrombus with AngioVac (AngioDynamics, Latham, NY), subsequent sternotomy revealed a large pedunculated mass extending to the infra-hepatic IVC. Further abdominal imaging showed multiple uterine masses, with the largest about 17 cm, infiltrating the parauterine vessels and extending through the right iliac vein and inferior vena cava up to the right atrium. Pathology examination of the atrial mass revealed benign leiomyoma consistent with further pathology findings after hysterectomy. The pulmonary embolism was believed to be caused by tumor tissue, and anticoagulation was abandoned. Pulmonary nodule raised a suspicion of benign pulmonary metastases, but, fortunately, remained stable during follow-up and the patient had a successful recovery. CONCLUSIONS Available information about IVL is scarce. This tumor, although benign and rare, should be included in the differential diagnosis of cardiac tumors and non-thrombotic pulmonary emboli in women with predisposing risk factors, as potential complications are life-threatening.

Background: Fibroids are the most common benign tumours of the female genital tract and are associated with numerous clinical problems including a possible negative impact on fertility. In women requesting preservation of fertility, fibroids can be surgically removed (myomectomy) by laparotomy, laparoscopically or hysteroscopically depending on the size, site and type of fibroid. Myomectomy is however a procedure that is not without risk and can result in serious complications. It is therefore essential to determine whether such a procedure can result in an improvement in fertility and, if so, to then determine the ideal surgical approach., Objectives: To examine the effect of myomectomy on fertility outcomes and to compare different surgical approaches., Search Methods: We searched the Cochrane Gynaecology and Fertility Group (CGFG) Specialised Register, CENTRAL, MEDLINE, Embase, PsycINFO, CINAHL, Epistemonikos database, World Health Organization (WHO) International Clinical Trials Registry Platform search portal, Database of Abstracts of Reviews of Effects (DARE), LILACS, conference abstracts on the ISI Web of Knowledge, OpenSigle for grey literature from Europe, and reference list of relevant papers. The final search was in February 2019., Selection Criteria: Randomised controlled trials (RCTs) examining the effect of myomectomy compared to no intervention or where different surgical approaches are compared regarding the effect on fertility outcomes in a group of infertile women suffering from uterine fibroids., Data Collection and Analysis: Data collection and analysis were conducted in accordance with the procedure suggested in the Cochrane Handbook for Systematic Reviews of Interventions., Main Results: This review included four RCTs with 442 participants. The evidence was very low-quality with the main limitations being due to serious imprecision, inconsistency and indirectness. Myomectomy versus no intervention One study examined the effect of myomectomy compared to no intervention on reproductive outcomes. We are uncertain whether myomectomy improves clinical pregnancy rate for intramural (odds ratio (OR) 1.88, 95% confidence interval (CI) 0.57 to 6.14; 45 participants; one study; very low-quality evidence), submucous (OR 2.04, 95% CI 0.62 to 6.66; 52 participants; one study; very low-quality evidence), intramural/subserous (OR 2.00, 95% CI 0.40 to 10.09; 31 participants; one study; very low-quality evidence) or intramural/submucous fibroids (OR 3.24, 95% CI 0.72 to 14.57; 42 participants; one study; very low-quality evidence). Similarly, we are uncertain whether myomectomy reduces miscarriage rate for intramural fibroids (OR 1.33, 95% CI 0.26 to 6.78; 45 participants; one study; very low-quality evidence), submucous fibroids (OR 1.27, 95% CI 0.27 to 5.97; 52 participants; one study; very low-quality evidence), intramural/subserous fibroids (OR 0.80, 95% CI 0.10 to 6.54; 31 participants; one study; very low-quality evidence) or intramural/submucous fibroids (OR 2.00, 95% CI 0.32 to 12.33; 42 participants; one study; very low-quality evidence). This study did not report on live birth, preterm delivery, ongoing pregnancy or caesarean section rate. Laparoscopic myomectomy versus myomectomy by laparotomy or mini-laparotomy Two studies compared laparoscopic myomectomy to myomectomy at laparotomy or mini-laparotomy. We are uncertain whether laparoscopic myomectomy compared to laparotomy or mini-laparotomy improves live birth rate (OR 0.80, 95% CI 0.42 to 1.50; 177 participants; two studies; I 2 = 0%; very low-quality evidence), preterm delivery rate (OR 0.70, 95% CI 0.11 to 4.29; participants = 177; two studies; I 2 = 0%, very low-quality evidence), clinical pregnancy rate (OR 0.96, 95% CI 0.52 to 1.78; 177 participants; two studies; I 2 = 0%, very low-quality evidence), ongoing pregnancy rate (OR 1.61, 95% CI 0.26 to 10.04; 115 participants; one study; very low-quality evidence), miscarriage rate (OR 1.25, 95% CI 0.40 to 3.89; participants = 177; two studies; I 2 = 0%, very low-quality evidence), or caesarean section rate (OR 0.69, 95% CI 0.34 to 1.39; participants = 177; two studies; I 2 = 21%, very low-quality evidence). Monopolar resectoscope versus bipolar resectoscope One study evaluated the use of two electrosurgical systems during hysteroscopic myomectomy. We are uncertain whether bipolar resectoscope use compared to monopolar resectoscope use improves live birth/ongoing pregnancy rate (OR 0.86, 95% CI 0.30 to 2.50; 68 participants; one study, very low-quality evidence), clinical pregnancy rate (OR 0.88, 95% CI 0.33 to 2.36; 68 participants; one study; very low-quality evidence), or miscarriage rate (OR 1.00, 95% CI 0.19 to 5.34; participants = 68; one study; very low-quality evidence). This study did not report on preterm delivery or caesarean section rate., Authors' Conclusions: There is limited evidence to determine the role of myomectomy for infertility in women with fibroids as only one trial compared myomectomy with no myomectomy. If the decision is made to have a myomectomy, the current evidence does not indicate a superior method (laparoscopy, laparotomy or different electrosurgical systems) to improve rates of live birth, preterm delivery, clinical pregnancy, ongoing pregnancy, miscarriage, or caesarean section. Furthermore, the existing evidence needs to be viewed with caution due to the small number of events, minimal number of studies and very low-quality evidence., (Copyright © 2020 The Cochrane Collaboration. Published by John Wiley & Sons, Ltd.)

There has been growing concern surrounding the use of unconfined power morcellation in laparoscopic surgeries for uterine leiomyoma due to its associated risks and long-term clinical sequelae, including parasitic leiomyomas and disseminated peritoneal leiomyomatosis (DPL). We present a case of DPL resulting from previous laparoscopic morcellation and a review of the existing literature. DPL is a potentially devastating consequence of unconfined laparoscopic morcellation in the surgical management of uterine fibroids. A multidisciplinary approach is recommended in the management of DPL, especially in cases of multivisceral involvement. Clinical caution ought to be exercised when using power morcellators; when unavoidable, confined laparoscopic morcellation offers a promising mitigation and should be adopted if practicable., (Copyright: © Singapore Medical Association.)

Uterine intravenous leiomyomatosis is an uncommon tumor, usually arising from the uterus, with nodular masses which extend intravascularly over variable distances and may reach the inferior vena cava, right atrium, and pulmonary arteries. Early diagnosis and surgical intervention are crucial as intracardiac leiomyomatosis not only causes cardiac symptoms but may result in pulmonary embolism and sudden death. Complete tumor resection is key in disease management, thus rendering cardiac-extending uterine intravenous leiomyomatosis one of the most challenging conditions for surgical treatment. The use of interventional radiology procedures can facilitate the surgical approach. We report the case of a massive pelvic recurrence of uterine leiomyomatosis with intracardiac extension and pulmonary embolism, analyzing management and surgical outcomes, highlighting the role of interventional radiology during the therapeutic pathway. Nonetheless, there are currently very few data available concerning the use of interventional radiology procedures in the therapeutic strategy of uterine intravenous leiomyomatosis with intracardiac extension.

Objective: To describe laparoscopic management of a case of leyomiomatosis peritonealis disseminata associated with ovarian endometriosis., Design: Surgical video article., Setting: Academic hospital., Patient: We present a case of a 30-year-old woman referred to our clinic for abdominal and pelvic pain and dyspareunia. A hysteroscopic myomectomy was reported as previous surgical history. At ultrasound examination, a left ovarian cyst of 4 cm suspected for typical endometrioma and a mild hydroureteronephrosis of left kidney were revealed. The patient was scheduled for laparoscopic surgery., Interventions: During laparoscopy, multiple nodules were found simulating widespread metastases involving colon, small bowel, omentum, right diaphragmatic dome, gastric surface, vesico-uterine area and abdominal peritoneum. Several biopsies and a peritoneal washing were performed, suspecting a peritoneal carcinomatosis. The histological frozen section examination revealed a possible benign disease, requiring further immunohistochemical study that diagnosed leiomyomatosis peritonealis. A second laparoscopy was then performed after one month. Enucleation of the left ovarian endometriotic cyst with classic stripping technique was performed. The left ureter was compressed by a fibrotic nodule of 5 cm that was isolated and removed. Operating time was 80 minutes. The postoperative course was uneventful and the patient was discharged on postoperative day 2., Main Outcome Measures: Description of a case of leiomyomatosis peritonealis disseminata in a patient with no previous history of intra-abdominal morcellation., Results: The removal of the left ovarian endometriotic cyst and the periureteral nodule was successfully performed. The patient reported good health conditions without hydroureteronephrosis at six months follow up visit., Conclusions: Leiomyomatosis peritonealis disseminata is a rare clinical disorder characterized by proliferation of nodules, consisted by smooth muscle cells. The association of this condition with endometriosis has been described in other studies. Despite several medical therapies have been proposed (chemotherapy, aromatase inhibitor, gonadotropin-releasing hormone agonist), surgical excision remains a good option, frequently performed for symptoms palliation. Laparoscopic approach might be considered the procedure of choice in case of symptomatic women with leiomyomatosis peritonealis disseminata., (Copyright © 2019 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Rationale: Pulmonary embolism is a potentially devastating medical condition. Although deep-vein thrombosis is the most common etiology, a nonthrombotic pulmonary embolism is not uncommon., Patient Concerns: A 45-year-old woman was admitted to our hospital for progressive effort dyspnea for 3 weeks., Diagnosis: Echocardiography revealed a mobile mass extending from the right atrium to the bilateral proximal pulmonary artery. As the mass was no response to thrombotic therapy, intravenous leiomyomatosis was suspected. Computed tomography (CT) revealed a hypo-attenuated tumor extending from the ovarian vein to the pulmonary artery., Interventions: A 1-stage operation for the surgical removal of the tumor, right salpingo-oophorectomy and subtotal hysterectomy were performed. Surgical specimen was identified as uterine leiomyomatosis without malignant transformation., Outcomes: The patient was followed- up for 2 years and subsequent CT did not reveal any notable lesions., Lessons: Nonthrombotic pulmonary embolism is a potentially life-threatening complication. This case indicated intravenous leiomyomatosis should be considered in the differential diagnosis for certain cases. Complete surgical excision was the only curative treatment.

Background: Pulmonary lymphangioleimyomatosis (PLAM) is a rare disease involving lung. PLAM primarily affects young women, a characteristic it shares with systemic lupus erythematosus (SLE). Estrogen has long been assumed to play an important role both in PLAM and SLE. We report a menopausal woman, who was found to have PLAM 1 year after she was diagnosed with SLE. Her chest radiograph was normal in the early phase of SLE., Case Presentation: A 52-year-old Chinese woman was referred to our hospital in August 2014 because of swelling in both legs. She also reported a malar rash and intermittent generalized arthralgia. Laboratory examination showed leukopenia. Her serum albumin level was 23 g/L; 24-h urinary protein excretion was 5.3 g. She tested positive for anti-Smith (Sm) antibody and anti-SS-A antibody. Renal biopsy indicated Class V + IV(G)-A lupus nephritis (LN). The condition of SLE and LN improved on a regime of tapering prednisolone and intermittent intravenous cyclophosphamide therapy until 1 year later when she developed exertional dyspnea accompanied with frequent cough. Thoracic computed tomography revealed numerous well-defined cysts and the diagnosis of PLAM was confirmed by lung biopsy. In the follow-up period, the patient continued to be on prednisolone and mycophenolate mofetil for the treatment of SLE, but only agreed to receive symptomatic treatment for PLAM. One year after the diagnosis of PLAM, during which time the SLE was stable, she died of respiratory failure and cor pulmonale., Conclusion: We report a patient with coexisting SLE and PLAM, who was treated with immunosuppressive therapy. SLE was stable but PLAM was not improved. Although the coexistence of SLE and PLAM might be a coincidence, the occurrence of these two diseases in a menopausal woman may warrant further mechanistic exploration.

Alport syndrome-diffuse leiomyomatosis (AS-DL, OMIM: 308940) is a rare variant of the X-linked Alport syndrome that shows overgrowth of visceral smooth muscles in the gastrointestinal, respiratory and female reproductive tracts in addition to renal symptoms. AS-DL results from deletions that encompass the 5' ends of the COL4A5 and COL4A6 genes, but deletion breakpoints between COL4A5 and COL4A6 have been determined in only four cases. Here, we characterize deletion breakpoints in five AS-DL patients and show a contiguous COL4A6/COL4A5 deletion in each case. We also demonstrate that eight out of nine deletion alleles involved sequences homologous between COL4A5 and COL4A6. Most breakpoints took place in recognizable transposed elements, including long and short interspersed repeats, DNA transposons and long-terminal repeat retrotransposons. Because deletions involved the bidirectional promoter region in each case, we suggest that the occurrence of leiomyomatosis in AS-DL requires inactivation of both genes. Altogether, our study highlights the importance of homologous recombination involving multiple transposed elements for the development of this continuous gene syndrome and other atypical loss-of-function phenotypes.

Background: Intravenous leiomyomatosis (IVL) extending to inferior vena cava and heart is one of the most challenging conditions for surgical treatment. We explored the use of computerized tomography angiography (CTA) in preoperative assessment for this disease., Methods: A cohort of 31 patients with IVL extending to inferior vena cava and heart were reviewed from the year 2002 to 2014, focusing on the preoperative CTA imaging characteristics and the surgical procedures in clinical treatment., Results: All patients were diagnosed correctly combining the clinical medical history and CTA imaging. Thirteen patients had tumors confined within the inferior vena cava, and 18 patients had tumors intruding into the right heart. Furthermore, 15 tumors were located in the right atrium alone, and 3 tumors involved both the right atrium and the right ventricle. All patients had simple or multiple soft tissue masses from the pelvis, with 22 tumors extending into inferior vena cava through the iliac veins and 9 tumors through the ovarian veins. Three patients had tumors invading into lung and underwent tumor thrombus resection in the pulmonary artery. Patients received either one-stage surgery or two-stage surgery dependent on patient general condition and tumor status. All operations were successfully performed by multidisciplinary cooperation, including gynecology, cardiac surgery, and vascular surgery, without severe surgical-related complications or deaths., Conclusions: CTA imaging can present location, size, and full-scale extension pathway of IVL lesions, and can be used as first-line imaging technique in preoperative assessment, having great significance in making surgical plan and obtaining successful outcome.

Introduction: Leiomyomatosis peritonealis disseminata is a very rare benign condition of the peritoneal cavity that may mimic peritoneal carcinomatosis or metastatic leiomyosarcomas. It mainly develops in association with pregnancy, but is also rarely associated with endometriosis., Case Presentation: A 31-year-old Asian woman presented to our hospital with abdominal pain in the right lower quadrant. Her abdominopelvic computed tomography scan showed a 1.2cm-sized nodule at the appendiceal tip, but no other abnormal findings. We suspected acute appendicitis and performed an exploratory laparoscopy. Her appendix was enlarged at the tip portion. Also noted were blood-colored fluid collections in her pelvic cavity and bilateral ovarian cysts. Additionally, several small whitish firm solid nodules, ranging from 0.5 to 1.0cm in size, were present on her pelvic peritoneum. Her histological examination confirmed that the endometriosis of her appendix coexisted with leiomyomatosis peritonealis disseminata., Conclusions: We report a case involving a 31-year-old woman with acute symptoms of endometriosis of the appendix associated with leiomyomatosis peritonealis disseminata. Appendiceal endometriosis with leiomyomatosis peritonealis disseminata presenting as acute appendicitis is extremely rare. To the best of our knowledge, this is the first such case reported in the literature.

Abnormal uterine bleeding is a common gynecological disease and represents one of the most frequent reasons for hospital admission to a specialist unit, often requiring further surgical treatment. Following the so-called PALM-COEIN system we will attempt to further clarify the surgical treatments available today. The first group (PALM) is characterized by structural lesions, which may be more appropriately treated by means of surgical management. Although hysterectomy remains the definitive and decisive choice, there are many alternative techniques available. These minimally invasive procedures offer the opportunity for a more conservative approach. Precise and accurate counseling facilitates better patient selection, based on the patient's desires, age and disease type, allowing treatment to be individually tailored to each woman.

Objective: To report a case of acute abdomen secondary to torsion of uterine remnant leiomyoma and ipsilateral adnexa in a woman with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and known history of bilateral uterine remnant leiomyomas., Design: Case report., Setting: Tertiary care center., Patient(s): A 40-year-old nulligravid woman with MRKH syndrome and a known history of bilateral uterine remnant leiomyomas with a surgical abdomen., Surgery: right salpingo-oopherectomy, excision of right and left hemiuteri with pedunculated leiomyomas, and left salpingectomy., Main Outcome Measure(s): Definitive therapy with preservation of premenopausal state., Result(s): First known case of acute surgical presentation secondary to torsion of uterine remnant leiomyoma and ipsilateral adnexa in a woman with MRKH syndrome and bilateral voluminous uterine remnant leiomyomas without any plan for elective surgical intervention., Conclusion(s): Elective surgical removal of uterine remnant leiomyoma for women with MRKH syndrome can prevent the complication of torsion as well as prevent ovarian resection in premenopausal women. Torsion should be considered in the differential diagnosis in a woman with MRKH syndrome and known history of leiomyomas who presents with acute abdomen., (Published by Elsevier Inc.)

Study Question: What are the characteristics of the pregnancy outcomes in women undergoing robot-assisted laparoscopic myomectomy (RALM) for symptomatic leiomyomata uteri?, Summary Answer: Despite a high prevalence of women with advanced maternal age, obesity and multiple pregnancy in our cohort, the outcomes are comparable with those reported in the literature for laparoscopic myomectomy., What Is Known Already: Reproductive outcomes after traditional laparoscopic myomectomy are well documented. However, reproductive outcomes following robotic myomectomy are not well studied. This paper describes the pregnancy outcomes for a large cohort of women after robotic myomectomy., Study Design, Size, Duration: This is a retrospective cohort of women who became pregnant after robot-assisted myomectomy at three centers. Of the 872 women who underwent robotic myomectomy during the period October 2005-November 2010, 107 subsequently conceived resulting in 127 pregnancies and 92 deliveries through 2011., Participants/material, Setting, Methods: Women of reproductive age with fibroids who wanted a minimally invasive treatment option and desired uterine preservation were recruited. We conducted a multicentre study with three centers, two in a private practice and one in an academic setting. Pregnancy outcomes and their relationship to myoma characteristics were analyzed., Main Results and Role of Chance: Mean ± SD age at myomectomy was 34.8 ± 4.5 years and 57.4% [95% confidence interval (CI) 48.0, 66.3] of women were overweight or obese. The mean number of myomas removed was 3.9 ± 3.2 with a mean size of 7.5 ± 3.0 cm and mean weight of 191.7 ± 144.8 g. Entry of the myoma into the endometrial cavity occurred in 20.6% (95% CI 15.0, 27.7) of patients. The mean time to conception was 12.9 ± 11.5 months. Assisted reproduction techniques were employed in 39.4% (95% CI 32.6, 46.7) of these women. Seven twin pregnancies and two triplet pregnancies occurred, for a multiple pregnancy birth rate of 9.8% (95% CI 5.0, 17.8). Spontaneous abortions occurred in 18.9% (95% CI 13.0, 26.6). Preterm delivery prior to 35 weeks of gestational age occurred in 17.4% (95% CI 10.9, 26.5). One uterine rupture (1.1%; 95% CI 0.3, 4.7) was documented. Pelvic adhesions were discovered in 11.4% (95% CI 7.0, 18.0) of patients delivered by Cesarean section. Higher preterm delivery rates were significantly associated with a greater number of myomas removed and anterior location of the largest incision (compared with all other sites) in logistic regression analyses (P = 0.01). None of the myoma characteristics were related to spontaneous abortion., Bias, Confounding and Other Reasons for Caution: Given the retrospective nature of the data collection, some pregnancies may not have been captured. In addition, owing to the high prevalence of infertility patients in this cohort, the data cannot be used to counsel women who are undergoing RALM about fertility rates after surgery., Generalizability to Other Populations: Prospective studies are needed to determine if the results shown in our cohort are generalizable to all women seeking a minimally invasive option for the conservative treatment of symptomatic fibroids with pregnancy as a desired outcome., Study Funding/competing Interest(s): There was no funding source for this study.

Intravenous leiomyomatosis is a rare condition that has been described as being associated with venous occlusion by direct intravascular tumor extension, typically from a pelvic organ. We report an exceedingly rare case of intravenous leiomyomatosis extending into the inferior vena cava, leading to pulmonary embolism, hepatic venous outflow obstruction, and an acute Budd-Chiari syndrome. This is the second reported patient with intravenous leiomyomatosis with Budd-Chiari syndrome and, to our knowledge, the first reported patient who survived with surgery. Correlative images, illustrating computed tomography and magnetic resonance imaging findings characteristic of intravenous leiomyomatosis with secondary Budd-Chiari syndrome, are presented and discussed., (Published by Mosby, Inc.)

Background: Stereotactic body radiation therapy (SBRT) administered via a helical tomotherapy (HT) system is an effective modality for treating lung cancer and metastatic liver tumors. Whether SBRT delivered via HT is a feasible alternative to brachytherapy in treatment of locally advanced cervical cancer in patients with unusual anatomic configurations of the uterus has never been studied., Case Presentation: A 46-year-old woman presented with an 8-month history of abnormal vaginal bleeding. Biopsy revealed squamous cell carcinoma of the cervix. Magnetic resonance imaging (MRI) showed a cervical tumor with direct invasion of the right parametrium, bilateral hydronephrosis, and multiple uterine myomas. International Federation of Gynecology and Obstetrics (FIGO) stage IIIB cervical cancer was diagnosed. Concurrent chemoradiation therapy (CCRT) followed by SBRT delivered via HT was administered instead of brachytherapy because of the presence of multiple uterine myomas with bleeding tendency. Total abdominal hysterectomy was performed after 6 weeks of treatment because of the presence of multiple uterine myomas. Neither pelvic MRI nor results of histopathologic examination at X-month follow-up showed evidence of tumor recurrence. Only grade 1 nausea and vomiting during treatment were noted. Lower gastrointestinal bleeding was noted at 14-month follow-up. No fistula formation and no evidence of haematological, gastrointestinal or genitourinary toxicities were noted on the most recent follow-up., Conclusions: CCRT followed by SBRT appears to be an effective and safe modality for treatment of cervical cancer. Larger-scale studies are warranted.

Objective: To report a novel association between a cancer predisposition syndrome (hereditary leiomyomatosis and renal cell carcinoma [HLRCC]) and male infertility., Design: Case report., Setting: University medical center adult genetics clinic., Patient(s): A 31-year-old male of Chinese ancestry referred for evaluation of immotile sperm., Intervention(s): Physical examination, family history assessment, genetic testing, and cancer screening., Main Outcome Measure(s): Genetic testing results., Result(s): Physical exam: cutaneous leiomyomata on the upper back and left arm. Family history: the patient has a sister with uterine leiomyomata. Genetic testing revealed a mutation in the fumarate hydratase gene, which codes for an enzyme (fumarase) that has previously been implicated in sperm number and motility. More recently, heterozygous mutations in this gene have been associated with HLRCC. However, male infertility is not a recognized manifestation of this condition., Conclusion(s): A comprehensive medical (including family) history and physical examination are important when evaluating male infertility. Genetics consultation enabled our patient and his family to begin appropriate cancer screening and provided reproductive options, including prenatal/preimplantation diagnosis. Further studies of the relationship between fumarase, HLRCC, and male infertility are needed to provide accurate counseling to families and to better understand genotype-phenotype correlations., (Copyright 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Objectives: Fibroids are common, hormone-dependent, benign uterine tumors. They can cause significant morbidity and the symptoms depend largely on their size. The aim of this study was to describe the natural history of fibroids and identify factors that may influence their growth., Methods: This was a retrospective longitudinal study of premenopausal women who were diagnosed with uterine fibroids on ultrasound examination. All women underwent at least two transvaginal ultrasound scans, which were all performed by a single operator. Fibroids were measured in three perpendicular planes and the mean diameter was calculated. The size and position of every individual fibroid was assessed and recorded on a computerized database. The volume of each fibroid was calculated using the formula for a sphere., Results: A total of 122 women were included in the study. Their median age at the initial examination was 40 (range, 27-45) years. Seventy-two (59.0%) were nulliparous and 74 (60.7%) had multiple fibroids. The median interval between the initial and final examination was 21.5 (range, 8-90) months. The median fibroid volume increased by 35.2% per year. Small fibroids (< 20 mm mean diameter) grew significantly faster than larger fibroids (P = 0.007). The median increase in size was significantly higher in cases of intramural fibroids (53.2 (interquartile range (IQR), 11.2-217)%) than in subserous fibroids (25.1 (IQR, 1.1-87.1)%) and submucous fibroids (22.8 (IQR, - 11.7 to 48.3)%) (P = 0.012). Multivariate analysis retained only fibroid size at presentation as an independent predictor of fibroid growth., Conclusion: The growth of fibroids in premenopausal women is influenced by the tumor's size at presentation.

Case Report: A 42-year-old female presented with long-standing symptoms suggestive of gastroesophageal reflux disease improved after proton pump inhibitor treatment. An upper endoscopy revealed an intrathoracic position of the stomach (type 4 hiatal hernia) with no mucosal abnormality. Barium swallow demonstrated gastric herniation with gastric volvulus without stenosis. A computed tomographic scan confirmed the intrathoracic location of the stomach associated with thickening and edema of the gastric wall due to gastric volvulus, but no evidence of malignancy. The patient was scheduled for laparoscopic gastric repositioning with anterior hemifundoplication. Due to the incidental intraoperative finding of a large distal esophageal tumor (frozen section: esophageal leiomyomatosis), the operation was converted to conventional distal esophagectomy and proximal gastrectomy with reconstruction using a Merendino procedure. Final histology revealed extensive circumferential leiomyomatosis of the distal esophagus with a diameter of 10 cm. Esophageal leiomyomatosis is an extremely rare pathological finding with <100 cases reported in the literature., Conclusion: Any surgeon performing laparoscopic fundoplication has to be ready to deal with such unexpected findings, ie, converting the procedure and doing reconstruction with minimal morbidity. The Merendino procedure is a well-established reconstructive surgical option in cases of tumor formation at the gastroesophageal region with fewer postoperative morbidities like reflux symptoms.

The genetic basis for the hereditary leiomyomatosis and renal cell cancer syndrome is germ-line inactivating mutation in the gene for the Krebs/tricarboxylic acid cycle enzyme, fumarate hydratase (FH), the enzyme that converts fumarate to malate. These individuals are predisposed to development of leiomyomas of the skin and uterus as well as highly aggressive kidney cancers. Inhibition of FH should result in significant decrease in oxidative phosphorylation necessitating that glycolysis followed by fermentation of pyruvate to lactate will be required to provide adequate ATP as well as to regenerate NAD+. Moreover, FH deficiency is known to up-regulate expression of hypoxia-inducible factor (HIF)-1alpha by enhancing the stability of HIF transcript. This leads to activation of various HIF-regulated genes including vascular endothelial growth factor and glucose transporter GLUT1 and increased expression of several glycolytic enzymes. Because lactate dehydrogenase-A (LDH-A), also a HIF-1alpha target, promotes fermentative glycolysis (conversion of pyruvate to lactate), a step essential for regenerating NAD+, we asked whether FH-deficient cells would be exquisitely sensitive to LDH-A blockade. Here, we report that hereditary leiomyomatosis and renal cell cancer tumors indeed overexpress LDH-A, that LDH-A inhibition results in increased apoptosis in a cell with FH deficiency and that this effect is reactive oxygen species mediated, and that LDH-A knockdown in the background of FH knockdown results in significant reduction in tumor growth in a xenograft mouse model.

Whereas uterine leiomyoma is a common woman disease, intravenous leiomyomatosis with intracaval and intracardiac complications is a rare condition. The initial presentation is dependent upon the severity of the intracardiac involvement, although complete surgery is the best treatment. The case of a 39-year-old woman is described here, with an initial presentation of dyspnea and right heart failure. Leiomyomatosis originating from the uterus and extending to the inferior vena cava and right atrium was diagnosed from various preoperative studies. The patient was resuscitated because of respiratory failure and severe right heart failure. However, she was operated successfully through a two-stage approach and remained well postoperatively. This case illustrates an intriguing presentation of intravenous leiomyomatosis and a curative surgical intervention even in critical condition.

Background: Women who undergo uterine artery embolization (UAE) and subsequently have heavy vaginal bleeding require assessment to establish the cause. Endometrial sampling in such women should not necessarily carry more than the usual risk., Cases: Two women who had undergone UAE presented with recurrence of heavy vaginal bleeding. In order to rule out possible endometrial malignancy, we performed an endometrial biopsy. Both patients had large and necrotic intramural myomas adjacent to the endometrium. They developed septic uterus shortly after endometrial biopsy and each required a hysterectomy. The postoperative course in the first case was complicated by deep vein thrombosis and enterovaginal fistula., Conclusion: Because of the high risk of infection, women with a history of UAE and necrotic myoma adjacent to the endometrium should not undergo endometrial biopsy. We recommend evaluation of the relation of myomas to the endometrium.

A 48-yr-old female Asian elephant with a history of pododermatitis developed recurrent hematuria beginning in 2002. Transrectal ultrasonography and endoscopic examination in 2004 identified the uterus as the source of hematuria and excluded hemorrhagic cystitis. Treatment with Desloreline implants, antibiotics, and homeopathic drugs led to an improved general condition of the elephant. In July 2005, the elephant was suddenly found dead. During necropsy, the severely enlarged uterus contained about 250 L of purulent fluid, and histopathology revealed ulcerative suppurative endometritis with high numbers of Streptococcus equi ssp. zooepidemicus and Escherichia coli identified on aerobic culture. Additional findings at necropsy included: multifocal severe pododermatitis, uterine leiomyoma, and numerous large calcified areas of abdominal fat necrosis. Microbiologic culture of the pododermatitis lesion revealed the presence of Streptococcus agalactiae, Streptococcus equi ssp. zooepidemicus, Staphylococcus sp., Corynebacterium sp., and Entercoccus sp.

Esophageal leiomyomatosis is a rare hamartomatous disorder with varied presentation. In the literature, it is described mostly in children, and is associated with Alport's syndrome. A case of leiomyomatosis that presented as achalasia not associated with Alport's syndrome is described in a 35-year-old woman with a 16-year history of dysphagia. Barium swallow showed a smooth narrowing at the lower end of the esophagus with a longer than usual stricture length. Endoscopy showed a dilated esophagus with a submucosal nodule in the region of the cardia. A computed tomography scan revealed circumferential thickening of the esophagus involving the gastroesophageal junction, with fat planes maintained with the adjacent structure. Endoscopic ultrasound demonstrated a lesion arising from the muscularis propria. The manometry findings were suggestive of achalasia. She underwent transhiatal esophagectomy with gastric pull-up. Leiomyomatosis should be considered as a cause of psuedoachalasia in patients with symptoms suggestive of achalasia and atypical barium findings. Attempts should be made to confirm the diagnosis preoperatively using computed tomography and/or endoscopic ultrasound. Esophagectomy is the treatment of choice.

Objective: To describe a successful pregnancy after a change in configuration of the endometrial cavity after magnetic resonance imaging-guided focused ultrasound surgery (MRgFUS) for leiomyomas., Design: Case report., Setting: University hospital., Patient: A 40-year-old woman with known leiomyomas and a history of secondary infertility., Intervention: Magnetic resonance imaging-guided focused ultrasound surgery treatment of two intramural myomas, one with a significant submucosal component., Main Outcome Measure: Change in conformation of the uterine cavity., Result(s): A viable intrauterine pregnancy, with full-term uneventful labor and vaginal delivery., Conclusion(s): Magnetic resonance imaging-guided focused ultrasound surgery changed the configuration of the endometrial cavity, and a subsequent pregnancy resulted in a term delivery.

Disseminated peritoneal leiomyomatosis (DPL) is an exceedingly rare condition that simulates metastatic tumour and mostly occurs in women of reproductive age group subjected to an altered hormonal milieu, usually pregnancy. Here we report a case of a pregnant 28 year female with DPL, spontaneously regressing after pregnancy.

Background: Leiomyomatosis peritonealis disseminata (LPD) is a rare disease in which multiple smooth muscle or smooth muscle-like nodules develop subperitoneally in any part of the abdominal cavity. No reports of multiple congenital malformations associated with LPD have been found in the English literature., Case Presentation: A 27 year-old patient referred to our gynaecology unit for pelvic pain, amenorrhoea, stress incontinence, chronic constipation and recurrent intestinal and urinary infections. Multiple congenital malformations had previously been diagnosed. Most of these had required surgical treatment in her early life: anorectal malformation with rectovestibular fistula, ectopic right ureteral orifice, megadolichoureter and hemisacrum. An ultrasound scan and computed tomography performed in our department showed an irregular, polylobate, complex 20 cm mass originating from the right pelvis that reached the right hypochondrium and the epigastrium. The patient underwent laparotomy. The three largest abdominal-pelvic masses and multiple independent nodules within the peritoneum were progressively removed. The histological diagnosis was of LPD., Conclusion: The case we report is distinctive in that a rare acquired disease, LPD, coexists with multiple congenital malformations recalling a particular subgroup of caudal regression syndrome: the Currarino syndrome.

Metastatic leiomyomatosis is a rare but potentially life-threatening tumor of smooth muscle cells. Leiomyomas originate predominantly in the uterus and can spread to the lung and, rarely, the heart. We present a case of a 36-year-old woman with known pelvic leiomyomatosis with metastasis to the tricuspid valve. Tricuspid valve replacement was complicated by retroperitoneal hemorrhage from residual pelvic tumor. This potentially catastrophic occurrence should be considered when undertaking resection of intracardiac leiomyomatosis.

A 37-yr-old female Asian elephant (Elephas maximus) presented with anorexia, restlessness, and dark-colored urine. Urinalyses showed hematuria, leukocyturia, isosthenuria, proteinuria, granular casts, and no calcium oxalate crystals. Bloodwork revealed azotemia. Urine culture revealed a pure growth of Streptococcus zooepidemicus resistant to sulfamethoxazole-trimethoprim but susceptible to cephalosporins. A presumptive diagnosis of pyelonephritis was made based on bloodwork, urinalysis, and urine culture. The animal was treated with intravenous ceftiofur, and intravenous and per rectum fluids were given for hydration. The elephant's attitude and appetite returned to normal, the abnormal blood parameters resolved, and urinary calcium oxalate crystals reappeared after treatment, supporting presumptive diagnosis. Follow-up ultrasonography revealed an abnormal outline of both kidneys with parenchymal hyperechogenicity and multiple uterine leiomyomas.

We report the first known case of right endometrial cyst and multiple uterine leiomyomata complicated by an ovarian granulosa cell tumour of adult type. A 42 year old woman had an adult type left granulosa cell tumour. Laparoscopy 13 years earlier had revealed a small endometrial implant on the peritoneum, without uterine leiomyomata or bilateral ovarian tumours. Findings in this case suggest that the aetiology of endometriosis and uterine leiomyomata are related to the presence of an oestrogen-secreting neoplasm and that the presence of a state of hyperoestrogenaemia due to granulosa cell tumour over several years might have stimulated the development of endometriosis and leiomyomata.

Diffuse esophageal leiomyomatosis (DL), a benign smooth-muscle-cell tumor, is characterized by abnormal cell proliferation. DL is sometimes associated with X-linked Alport syndrome (AS), an inherited nephropathy caused by COL4A5 gene mutations. COL4A5 is tightly linked, in a head-to-head fashion, to the functionally related and coordinately regulated COL4A6 gene. No X-linked AS cases are due to COL4A6 mutations, but all DL/AS cases are always associated with deletions spanning the 5' regions of the COL4A5/COL4A6 cluster. Unlike the COL4A5 breakpoints, those of COL4A6 are clustered within intron 2 of the gene. We identified a DL/AS deletion and the first characterization of the breakpoint sequences. We show that a deletion eliminates the first coding exon of COL4A5 and the first two coding exons of COL4A6. The breakpoints share the same sequence, which, in turn, is closely homologous to the consensus sequences of topoisomerases I and II. Additional DNA evidence suggested that the male patient is a somatic mosaic for the mutation. Immunohistochemical analysis using alpha-chain-specific monoclonal antibodies supported this conclusion, since it revealed the absence of the alpha5(IV) and alpha6(IV) collagen chains in most but not all of the basement membranes of the smooth-muscle-cell tumor. We also documented a similar segmental staining pattern in the glomerular basement membranes of the patient's kidney. This study is particularly relevant to the understanding of DL pathogenesis and its etiology.