Cutaneous Leiomyoma: A Clinical Study of 152 Patients

<b><i>Background:</i></b> Cutaneous leiomyoma (CL) is a benign smooth muscle tumour included in painful skin tumours. Multiple CLs are cutaneous markers of hereditary leiomyomatosis and renal cell cancer (HLRCC). <b><i>Objectives:</i></b> To retrospectively review our series of patients with CLs to analyse their clinical features and the association with HLRCC. <b><i>Methods:</i></b> Cases coded as CL in the database of the pathology department between 2004 and 2019 were included in the study. Medical records were retrospectively reviewed to obtain the following data: age, sex, location, number of lesions, diameter, evolution time at diagnosis, suspected clinical diagnosis, tenderness, status of resection margins, development of recurrence, follow-up time, and association with HLRCC. <b><i>Results:</i></b> 152 patients had CLs, 89 women and 63 men, mean age 56.26, SD 16.030 years. Subtypes were piloleiomyoma in 62 patients, angioleiomyoma in 80, and genital leiomyoma in 10. All of our 11 patients with multiple lesions corresponded to piloleiomyomas, and HLRCC was confirmed in 8 of them (73%). Patients with HLRCC were younger than patients with piloleiomyomas without HLRCC (34.88 vs. 56.17 years, <i>p</i> = 0.009). Vascular and genital leiomyomyomas were solitary and were not associated with HLRCC. <b><i>Conclusion:</i></b> In patients with multiple piloleiomyomas HLRCC must be ruled out as it is confirmed in a high proportion of cases. The probability of fumarate hydratase mutation is greater in multiple piloleiomyomas involving both the trunk and upper extremities in the same patient.

When the uterine mass is not a leiomyoma

A 37-year-old nulliparous woman with abnormal uterine bleeding and a uterine mass suggestive of a leiomyoma not responding to medical therapy was submitted to two hysteroscopies with histological analysis. The first one showed a ‘leiomyoma’ and the second a ‘uterine smooth muscle tumour of uncertain malignant potential/epithelioid leiomyosarcoma, with positivity for hormonal receptors’. The patient was submitted to a total hysterectomy with bilateral salpingo-oophorectomy, and the microscopic examination of the tumour revealed a ‘uterine tumour resembling ovarian sex-cord tumours’. According to the literature, most cases are diagnosed in postmenopausal women and have a favourable prognosis. These rare tumours have uncertain malignant potential and have no established treatment protocol, but it appears that a fertility-sparing approach is possible once they are well diagnosed.

Pulmonary benign metastasising leiomyoma: a single-institution case series

Background Benign metastasising leiomyoma (BML) is a rare and often asymptomatic presentation of smooth muscle tumour of uterine origin, occurring outside the uterus. We present the first case series of pulmonary BML in a contemporary UK population. Patients were identified from prospective histopathological databases spanning from 2003 to 2019. Data was collected retrospectively from physical and electronic data sources. Results Six post-menopausal females were identified with an average age of 44±8 years (mean±SD). Fifty percent of our cohort was asymptomatic with an incidental finding of pulmonary nodules, whilst the others complained of non-specific respiratory symptoms. Five patients (88%) had multiple lesions (median 9, range 2 to 12)—with bilateral distribution, measuring an average of 11 mm (range 7 to 27) in size on cross-sectional imaging. All patients underwent diagnostic surgical pulmonary wedge resection, with no perioperative morbidity. Immunohistochemistry confirmed the presence of ‘spindle cells’, staining positive for smooth muscle actin, desmin and progesterone receptors for all patients (100%), and oestrogen receptors in five patients (87%). Four patients (67%) underwent a hysterectomy prior to diagnosis of BML and one (17%) due to the diagnosis itself. Four patients (67%) underwent oophorectomy, whilst one patient required hormonal suppression therapy. Survival was 100% at a median follow-up of 59.5 months (range 29 to 166). Conclusions BML is a rare clinical entity accounting for a small proportion of patients presenting with pulmonary nodules. Following successful tissue diagnosis, outcomes with conservative or medical management are excellent.

Disseminated Peritoneal Leiomyomatosis: A Case Report of an Incidental Finding During an Emergency Caesarean Section and a Review of the Literature

Aim: To present the case report of an incidental finding of disseminated peritoneal leiomyomatosis (DPL) found during an emergency caesarean section in a young Nigerian woman who presented with slow progress in labour and maternal exhaustion. Presentation of Case: We present the case of a 35-year-old unbooked primigravida with previous myomectomy who presented with maternal exhaustion and slow progress in labour and subsequently had an emergency lower segment caesarean section. At surgery, multiple firm to hard nodules of varying sizes were seen scattered throughout the peritoneum. Histological examination and immunohistochemical analysis of the nodules showed features consistent with disseminated peritoneal leiomyomatosis. Clinical and radiological follow-up for 1 year was uneventful. Discussion: DPL is a rare benign smooth muscle tumour that clinically and macroscopically simulates disseminated intra-abdominal or pelvic malignancy. It occurs predominantly in women of child bearing age and is mostly discovered incidentally. The occurrence of DPL in association with pregnancy and uterine leiomyomas was also corroborated in this index case as pedunculated and intramural uterine nodules were also seen during surgery. Conclusion: Disseminated peritoneal leiomyomatosis is a rare benign disease which may be misdiagnosed as disseminated or metastatic intra-abdominal malignancy. Therefore, a high index of suspicion is required for accurate diagnosis and proper management.

An oncological curiosity of a male patient with a huge leiomyoma of the terminal ileum

Leiomyoma is a smooth muscle tumour that can arise in any part of the body especially the uterus. Even though it is traditionally linked with hormonal influence, it can also develop in extrauterine organs with a slight female predominance. It is indistinguishable with gastrointestinal stromal tumour (GIST) histologically. We report a case of a 30-year-old gentleman who presented with a huge painful mass in the right iliac fossa. Computed tomography revealed a 10 × 10 cm homogeneous mass arising from the terminal ileum; he subsequently underwent an open right hemicolectomy. Histology showed a well-circumscribed lesion composed of interlacing bundles of smooth muscle fibres of the submucosa with positive smooth muscle actin and H-Caldesmon stains but negative for DOG-1 and CD117 (c-kit) stains which were consistent with leiomyoma. Despite its rarity, this hormone-related tumour needs to be considered regardless of gender. Immunohistochemistry is paramount as it is histologically identical to GIST.