Search

Diffuse oesophageal leiomyomatosis is a rare benign disease in the paediatric population. This report highlights a recent clinical case, together with a narrative review of current world literature.An early middle childhood girl with recurrent lower respiratory tract infections for 2 years was noted to have a retrocardiac lesion on chest X-ray, later confirmed to be an oesophageal mass on CT imaging. She underwent an Ivor-Lewis oesophagogastrectomy and a Heineke-Mikulicz pyloroplasty. Pathology examination revealed type I diffuse oesophageal leiomyomatosis. Alport syndrome was later confirmed following an episode of postoperative haematuria, which was corroborated by electron microscopy examination following renal biopsy.With an oesophageal mass lesion and Alport syndrome, oesophageal leiomyomatosis should be suspected in any patient with a clinical history of dysphagia and/or respiratory symptoms. Endoscopic ultrasound-guided tissue biopsy is valuable for diagnosis of all suspected lesions. Surgical resection is mandatory to effect cure., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal-dominant disorder that results from a germline pathogenic variant in the fumarate hydratase (FH) gene on chromosome 1, characterised by renal cell carcinoma (RCC), cutaneous leiomyoma and uterine leiomyoma. Leiomyosarcomas are reported in less than 1% of those with HLRCC. We report a case of a man in his 30s who had a long-standing plaque excised from the left upper arm after undergoing a radical nephrectomy for a fumarate-deficient RCC, with histological exam revealing a grade 1 leiomyosarcoma. Genetic testing confirmed a heterozygous pathogenic variant in the FH gene. This is a rare case of leiomyosarcoma associated with HLRCC, and our patient remains under surveillance with interval abdominal imaging and skin examination. Leiomyosarcomas are difficult to distinguish clinically from their benign counterpart; therefore, histopathological examination is paramount with a low threshold for excision., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Disseminated peritoneal leiomyomatosis (DPL) is a rare and benign clinical entity. It is also known as leiomyomatosis peritonealis disseminata (LPD). Here, we report and discuss a case of a primiparous woman in her early 40s who presented with heavy, prolonged, painful menses and heaviness in her lower abdomen. She underwent a laparoscopic myomectomy for a fibroid uterus, 12 months ago for similar complaints. On workup, she was diagnosed with DPL. We performed a total abdominal hysterectomy with bilateral salpingectomy, low anterior resection with stapled colorectal anastomosis and excision of peritoneal tumour deposits in consortium with the gastrosurgery team. Her postoperative period was uneventful, and the patient was discharged on postop day 6. Her histopathology report was consistent with leiomyoma; the follow-up period was uneventful., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Reed's syndrome (RS) is a rare autosomal-dominant disorder characterised by multiple cutaneous and uterine leiomyomas, with a strong tendency for renal cell carcinoma (RCC) development. A woman in her 50s, who had previously undergone total abdominal hysterectomy due to multiple uterine leiomyomas, presented with painful nodules on her trunk and right arm for the past 6 years. These nodules were confirmed as leiomyomas through histopathology. Diagnosis of RS was established through clinicopathological correlation and positive family history, particularly her mother's. Early-onset uterine leiomyomas in patients with a similar family history should raise suspicion for RS, necessitating vigilant long-term follow-up. RCC detection requires mandatory renal imaging. Screening family members and providing genetic counselling are crucial., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Intravascular leiomyomatosis (IVL) is a rare benign smooth muscle neoplasm growing within the pelvic venous system, often with caval and intracardiac extension. It frequently coexists with uterine leiomyomas or occurs in women with a history of myomectomy or hysterectomy. IVL is often asymptomatic until intracardiac extension occurs, and carries a risk of sudden death, necessitating timely diagnosis and management. We present a case of IVL diagnosed on hysterectomy specimen with extension to the inferior vena cava found on follow-up imaging. The patient underwent complete resection with multidisciplinary involvement of Gynaecological Oncology and Vascular Surgery and remains disease free following 12 months of follow-up., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Leiomyomas are common benign uterine smooth muscle tumours. Rarer subsets may demonstrate aggressive extrauterine growth which mimic metastatic disease. We discuss the case of a female patient in her 40s, with a long-standing atrophic right kidney, presenting with a 17 cm uterine mass demonstrating bilateral para-aortic and pelvic sidewall spread. Although biopsies favoured the diagnosis of a benign tumour, a leiomyosarcoma could not be excluded. The surgical complexity of the case was compounded by a tumour residing close to the only functioning kidney and engulfment of the inferior mesenteric artery. The surgical procedures indicated were a radical hysterectomy, the laterally extended endopelvic resection procedure to achieve clear margins in the pelvic sidewall and a left hemicolectomy. In the absence of formal guidelines, we present this challenging case to provide clarity into the histological assessment and surgical management of rare leiomyomas, as well as an overview of the current literature., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

We report the case of a woman in her 60s with intravascular leiomyomatosis. She suffered from numerous non-specific symptoms including weight loss, anaemia and sudden swelling of the left lower extremity. CT imaging showed the presence of an enlarged left ovary and a thrombus extending from the left ovarian venous plexus intruding into the right atrium of the heart. Cancer antigen 125 was 20 U/mL. Pelvic transvaginal ultrasound examination identified two normal ovaries and a mass adjacent to the left ovary. A second opinion on the CT scan was requested at a oncogynaecological multidisciplinary team meeting, where the radiologist of the team identified an intervascular leiomyomatosis. After further investigation, surgical treatment was planned and completed in collaboration with the departments of cardiothoracic and vascular surgery. The patient recovered fully., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Intravascular tumour extension can occur in many different types of cancer. Those with the highest tendency include renal cell carcinoma, adrenal cortical carcinoma and hepatocellular carcinoma. Inferior vena cava (IVC) tumour thrombus in gynaecological malignancy is rarely reported. We present a report on a female patient with extensive IVC tumour thrombus (intravenous leiomyomatosis) with concurrent intrauterine leiomyomatosis. She underwent a single-stage procedure, involving laparotomy and a sternotomy to remove her pelvic tumour, as well as the intracaval and intracardiac thrombus. The clinical presentation and management of this rare tumour will be detailed in this case report., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Intravascular leiomyomatosis is a rare, benign tumour of myometrial smooth muscle. Despite being non-invasive, these tumours can proliferate aggressively within vascular structures including pelvic vessels, the vena cava and the heart. We discuss a 77-year-old woman presenting with a 9 cm uterine mass extending into the right adnexa and ovarian vein. Following hysteroscopic biopsy, palliative radical surgical resection was performed for suspected stage IV leiomyosarcoma. Tumour extension into the pelvic sidewall and obturator fossa indicated a modified laterally extended endopelvic resection combined with skeletonisation and preservation of the pelvic neurovasculature, ultimately providing a curative procedure with minimal functional neurological morbidity. We present this unusual case to assist in the development of a consensus for optimal case management where formal guidelines are not yet available. We summarise current understanding of intravascular leiomyomatosis and highlight the value of advanced surgical techniques using knowledge of complex ontogenetic and pelvic neuroanatomy in its management., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Intravenous leiomyomatosis is extremely rare. This case describes a 42-year-old woman who presented with abdominal distension, cyclical bloating and urinary retention. Preoperative imaging showed a multilobulated uterine mass. Following multidisciplinary team discussion, a complete staging surgery consisting of midline laparotomy, total hysterectomy and bilateral salpingo-oophrectomy was performed. Intraoperatively, a large multilobulated uterine mass was noted with engorgement of the infundibulopelvic ligaments due to intravascular extension of tumour. On removal of the uterus, the patient desaturated and became hypotensive. Intraoperative transoesophageal echocardiography revealed mass extending from the inferior vena cava (IVC) into the right atrium (RA). The cardiothoracic surgical team retrieved a worm-like mass extending from the IVC into the RA. Histopathological examination diagnosed a large uterine leiomyoma with intravenous leiomyomatosis. The mass from the RA was a bland spindle cell tumour which matched the uterine mass histopathologically. Intravenous leiomyomatosis is a rare variant of uterine leiomyoma. Although intracardiac extension has been described, this is the first case of intraoperative embolisation of pelvic tumour to the RA at hysterectomy., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Leiomyomatosis peritonealis disseminata (LPD) is a rare condition, characterised by the proliferation of peritoneal smooth muscle nodules. LPD is a benign disease with a low rate of malignant degeneration. We describe the case of a 46-year-old, asymptomatic, woman presenting with a mass on the left renal hilum, identified by ultrasound. A CT scan showed three nodules near the left kidney, a mass anterior to the vena cava and bilateral iliac nodules. Biopsy revealed a mesenchymal low-grade tumour. The patient underwent a left nephrectomy and excision of the other masses. The histological diagnosis revealed smooth muscle nodular proliferation with no malignant features, compatible with LPD. The differential diagnosis between LPD and metastatic leiomyosarcoma is sometimes very difficult because they are clinically very similar and even on histology the diagnosis can be tricky. Treatment is conservative in most cases, with surgical excision reserved for high-risk patients., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

A 51-year-old, otherwise well woman, presented with progressive severe dyspnoea. CT pulmonary angiogram (CTPA) demonstrated a large filling defect within the right main pulmonary artery with evidence of right heart strain. She was anticoagulated and discharged home; however, was readmitted with progression of symptoms and hypotension within 1 month. Repeat CTPA demonstrated progression of the filling defect. Formal surgical thrombectomy was performed with removal of an unusual cream-coloured, rubber-like material. Histological analysis revealed intravenous leiomyomatosis (IVL). IVL is a rare benign neoplasm, characterised by smooth muscle cell proliferation in vascular structures that can act aggressively. This case describes the workup, recognition and management of IVL., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

A 30-year-old second gravida with history of laparoscopic myomectomy and one previous caesarean section was admitted at 31 weeks and 2 days period of gestation (POG) with a diagnosis of diffuse abdominopelvic leiomyomatosis and moderate anaemia. After correction of anaemia with intravenous iron and erythropoietin, laparotomy was performed at 37 weeks POG. A healthy female baby weighing 2.9 kg was delivered by classical caesarean section followed by hysterectomy in view of multiple fibroid uterus with uncontrolled bleeding. Debulking surgery was performed, and multiple large intraperitoneal leiomyomata with encasing blood vessels were removed. There was another 15×15 cm leiomyoma arising from the diaphragm which was excised. She received 4 units of packed red blood cells and fresh frozen plasma intraoperatively. The postoperative course was uneventful, both mother and baby were healthy and discharged 7 days after surgery., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Cutaneous leiomyomasare rare tumours of smooth muscle origin associated with disorders such as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. HLRCC is an autosomal dominant syndrome caused by loss of function mutations in the fumarate hydratase gene. Sufferers of this disorder are predisposed to the development of tumours of the skin and/or uterus, with a further subset of HLRCC families at risk of renal cell carcinoma with papillary features. This syndrome is rare and carries with it a significant rate of mortality. A multidisciplinary approach to care is critical in the management of these patients and their families. The dermatologist can play a central role in this process, coordinating care between specialist medical and allied health teams., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Competing Interests: Conflicts of Interest: None declared.

We report a case of a 40-year-old woman who presented with breathlessness, palpitations and vague pelvic pain for 6 months. The dyspnoea was non-exertional and episodic. She was a non-diabetic, non-hypertensive and had no history of prior surgeries. ECG and chest radiograph were normal. Cardiac MRI and 256-slice dual-source multidetector CT evaluation revealed the presence of a uterine and left adnexal mass with intravenous extension into the inferior vena cava via the gonadal veins, and further cephalad extension into the right atrium and ventricle. The patient was referred to the cardiothoracic surgery department and underwent two-stage surgical procedures. The first stage consisted of thoracotomy and tumour removal from the right atrium and inferior vena cava. In the second stage, hysterectomy and bilateral salpingo-oophorectomy was performed. The histological analysis of the excised specimen was consistent with an intravascular leiomyoma., (2015 BMJ Publishing Group Ltd.)

Extrauterine fibroids often present a diagnostic challenge due to the unusual locations they arise from. We present a series of rare extrauterine fibroids. In recent years, these fibroids have been associated with previous morcellated hysterectomies or myomectomies. Our series of six patients were found to have extrauterine fibroids (confirmed through histology) and underwent open hysterectomy and open or laparoscopic myomectomy. Four had undergone previous laparoscopic myomectomies while the other two had no previous intra-abdominal surgeries. Postsurgical occurrence may be caused by incomplete removal of morcellated fibroid tissue. Spontaneous occurrence can be associated with congenital Müllerian system defects. Extrapolating from this hypothesis, we recommend physicians to make sure that counselling for extrauterine seeding and dissemination of unexpected malignancy is undertaken in cases of minimally invasive surgeries where morcellation is expected. Long-term tumour surveillance is thus essential in such instances., (2014 BMJ Publishing Group Ltd.)

A 37-year-old woman, gravida 2, para 1 presented in the outpatient ward with dyspnoea and tachycardia of unknown origin. The physical examination was unremarkable. Echocardiography revealed an intracardiac mass protruding through the tricuspid orifice into the right ventricle during diastole. The patient was admitted to the intensive care unit with the suspicion of vena cava thrombosis with intracardiac expansion. An abdominal sonography showed a mass in the uterus, presumed to be a benign tumour, with extension into the vena cava inferior. Owing to the extent of the mass in the right atrium and the risk for pulmonary embolism, after interdisciplinary discussion, a decision to remove the atrial mass was made. The case was managed by a two-stage procedure. Pathological examination of the intracardiac portions of the tumour revealed a benign tumour that consisted of proliferating smooth muscle fibres without abnormal mitotic activity.