Intracranial angioleiomyoma: a case series of seven patients and review of the literature.

PURPOSE: Angioleiomyoma, predominantly arising from the extremities, is a benign soft tissue tumor. Reports on its intracranial location are rare. We assessed clinical, radiological, and pathological features of intracranial angioleiomyoma (iALM) treated at our neurosurgical institution. METHODS: We consecutively enrolled all patients with neuropathologically confirmed iALM treated at a single neurosurgical institution between 2013 and 2021. Clinical and imaging data were collected, and histological tissue sections were analyzed. A review of the literature on iALM was conducted. RESULTS: Seven patients with iALM (four female) with a median age of 45 years (range: 32-76 years) were identified. In three cases, the lesion was found incidentally. In magnetic resonance imaging (MRI), all tumors were hypo- to isointense on T1-weighted, hyperintense on T2-weighted sequences, and gadolinium-enhancing. A strong FLAIR signal was seen in six patients. Surgery consisted of gross total resection in all cases without perioperative complications. Neuropathological staining was positive for smooth muscle actin (SMA) in all lesions. Mature smooth muscle cells arranged around blood vessels were typically observed. The Ki-67 index was ≤ 3%. The patients were discharged after a median of 6 days (range: 4-9 days). During a median follow-up time of 14 months (range: 4-41 months), no tumor recurrence occurred. In the current literature, 42 additional cases of iALM were identified. CONCLUSION: Intracranial angioleiomyoma is a benign soft tissue tumor treated by gross total resection. Tumor morphology and positive staining for SMA lead to the neuropathological diagnosis.

Clinical characteristics and treatment outcomes of angioleiomyoma of the female genital tract: a retrospective cohort study.

BACKGROUND: Angioleiomyoma, a benign tumour composed of smooth muscle cells and thick-walled vessels, is expected to be very rare in the female genital tract. This study aimed to describe the clinicopathological features and treatment outcomes of angioleiomyoma in the female genital tract. METHODS: We retrospectively reviewed 89 women with angioleiomyoma in the genital tract who were treated at Third Xiangya Hospital of Central South University between July 2008 and October 2023. Symptom remission rate was the primary outcome of the study. RESULTS: Angioleiomyomas accounted for 0.6% of leiomyomas of the female genital tract. The average age of the 89 women was 41.8 ± 8.7 years. Seventy women (78.7%) had a history of uterine surgery, of whom two patients had removed uterine angioleiomyoma by laparoscopic myomectomy. The angioleiomyomas of 61 (68.5%) women were located in the uterine corpus, 17 (19.1%) in the broad ligament, 10 (11.2%) in the cervix and only 1 (1.1%) in the vagina. Abnormal uterine bleeding was the main clinical manifestation of angioleiomyomas located in the uterine corpus or cervix, whereas the main clinical manifestation of angioleiomyomas in the broad ligaments was pelvic mass. Of the 89 women, 59 underwent surgery to preserve the uterus, and 30 underwent total hysterectomy or subtotal hysterectomy. The intraoperative blood loss was more than 500 ml (700-4,500 ml) in six women. The symptom remission rate was 100% after surgery. Among the 59 women with preserved uterus, 8 showed multiple uterine leiomyomas during follow-up, but it was difficult to determine whether they were angioleiomyomas. Angioleiomyomas recurred in one women who underwent total hysterectomy. CONCLUSION: Angioleiomyoma is rare in the female reproductive tract, and patients may present with diverse symptoms, which are related to the location of the tumour. Hysterectomy and myomectomy are both effective treatment methods, but the risk of intraoperative bleeding should be recognised for multiple lesions and those with large diameters. Relapse may occur in some patients.

Epidural angioleiomyoma: an extraordinary cause of compressive myelopathy-MRI findings with histopathological correlation.

BACKGROUND: Angioleiomyomas are benign mesenchymal tumors usually located in the limbs, with anecdotal reports in the spine. We present an atypical case of an epidural spine angioleiomyoma presenting with compressive myelopathy symptoms. The diagnosis was suggested based on MRI findings, and subsequently confirmed histopathologically. RESULTS: This is the first known occurrence of pure spinal epidural angioleiomyoma as a source of compressive myelopathy. The imaging presentation, especially the 'dark reticular sign' on MRI, was crucial in suggesting the diagnosis despite the atypical location CONCLUSION: This report serves to raise awareness among clinicians and radiologists about including angioleiomyoma in differential diagnoses for spinal epidural lesions with indicative MRI features. The favorable outcome after surgical intervention underscores the necessity of swift and accurate diagnosis followed by appropriate treatment for such uncommon spinal tumors.

Perianal Angioleiomyoma: A Case Report and Review of the Literature.

Angioleiomyomas are rare benign tumors, which take origin from smooth muscle fibers of the tunica media of veins. Even though angioleiomyomas can appear anywhere in the body, these masses are rarely occurred in the gastrointestinal system. This is the first reported case of perianal angioleiomyomas, where the tumor in close relation with the anal canal was investigated with endoanal ultrasonography. Local excision of such lesion is generally curative.

PDGFRB and NOTCH3 Mutations are Detectable in a Wider Range of Pericytic Tumors, Including Myopericytomas, Angioleiomyomas, Glomus Tumors, and Their Combined Tumors.

Pericytic tumors are subclassified as myopericytomas, myofibromas, angioleiomyomas, and glomus tumors according to the current World Health Organization classification. These pericytic tumors form a continuous morphologic spectrum, including those with combined morphology. However, to our knowledge, no widely accepted criteria for classifying tumors with combined morphology are available. Recent studies have identified platelet-derived growth factor receptor-beta (PDGFRB) gene mutations in a subset of myofibromas, myopericytomas, and myopericytomatoses but not in angioleiomyomas. NOTCH receptor 3 (NOTCH3) mutations have been reported in a subset of infantile myofibromatosis. To assess their potential role in classifying pericytic tumors, we investigated PDGFRB and NOTCH3 mutations in 41 pericytic tumors of variable morphology, including some combined forms. Our results show these mutations to be present in a variety of pericytic tumors, such as myopericytomas (PDGFRB, 3/11; NOTCH3, 4/11), myopericytomatoses (1/2; 1/2), myofibromas (3/6; 0/6), angioleiomyomas (2/13; 3/13), and glomus tumors (5/9; 1/9). Point mutations were identified in 3 tumors in PDGFRB exon 12 (Y562C, S574F, and G576S), 12 tumors in PDGFRB exon 14 (M655I, H657L, and N666K), and 9 tumors in NOTCH3 exon 25 (A1480S/T, D1481N, G1482S, T1490A, E1491K, G1494S, and V1512A). All PDGFRB mutations and NOTCH3 G1482S, T1490A, and G1494S mutations were classified as "deleterious/damaging" by ≥4 of 6 pathogenicity prediction tools in silico. Five-mutation-positive tumors, including 1 myopericytoma-angioleiomyoma, 2 myopericytomatoses-myofibroma, 1 myofibroma-myopericytoma and 1 angioleiomyoma-myopericytoma, were of combined morphology. Therefore, we found PDGFRB and NOTCH3 mutations to be detectable in a much wider variety of pericytic tumors than previously reported and confirmed myopericytomas, myofibromas, angioleiomyomas, and glomus tumors as members harboring PDGFRB or NOTCH3 mutations. Our results thus suggest that PDGFRB or NOTCH3 mutations are not useful for subclassifying members of the pericytic tumor family.

Uterine angioleiomyoma with disseminated intravascular coagulation: a case report.

BACKGROUND: Uterine angioleiomyoma is benign tumor that composed of smooth muscle cells and thick-walled vessels. It is a very rare condition reported to present as lower abdominal mass, accompanied by dysmenorrhea and hypermenorrhea. However, its clinical presentation is not known. CASE PRESENTATION: We report the case of a 44-year-old Japanese woman who developed severe anemia with disseminated intravascular coagulation without obvious external bleeding. The patient had a huge abdominal mass of over 20 cm in size, which was thought to be a uterine tumor. She received daily blood transfusions and her condition improved rapidly after she underwent hysterectomy. Pathological examination of the tumor revealed spindle-shaped cells with little atypia and mitosis, and numerous large vessels with smooth muscle and thrombus in the vessels. CONCLUSIONS: Uterine angioleiomyoma was identified as the cause of the coagulation abnormality. CCND2 and AR gene amplification was detected in the tumor. Uterine tumors that present with coagulopathy despite a clinical course suggestive of benign disease should undergo differential diagnosis for uterine angioleiomyoma.

Primary angioleiomyoma of right frontal cranial base with intracranial and extracranial communication.

INTRODUCTION: Primary intracranial angioleiomyoma (ALM) is quite rare and ALM of the adolescent is even rarer. To date, only three cases of adolescents have been reported. MATERIAL AND METHODS: We carefully introduced a new location of intracranial ALM in an adolescent. The clinical, pathological and imaging features of intracranial ALM were described in detail and published literature was reviewed. RESULTS: To our best knowledge, we presented the fourth primary intracranial ALM of adolescent and the first ALM of the right frontal cranial base with intracranial and extracranial communication. We not only summarize the generalities of ALM but also illustrate the difference between adult and adolescent ALM in the aspects of gender and age predominance, etiology, common location and pathologic subtype. CONCLUSIONS: We reported the first ALM of the right frontal cranial base with intracranial and extracranial communication of an adolescent with a good prognosis. We also summarize the generalities of ALM and illustrate the difference between adult and adolescent ALM. Future investigation of control study with large patient cohorts is needed for both adult and adolescent ALM to compare the difference between them.

Current Concepts of Foot and Ankle Angioleiomyoma.

Angioleiomyoma is a benign tumor, which arises from the smooth muscle. It comprises approximately 4.4% of all benign soft tissues' neoplasms and they are commonly located at the lower extremities. They are most frequently found in middle-aged women. Angioleiomyoma is usually presented as a painful solitary lesion in the subcutaneous tissue. Due to the lack of evidence in the literature, the aim of this current concepts review was to provide foot and ankle surgeons the most updated and useful information for diagnosis and management of foot or ankle's angioleiomyoma. The possible diagnosis of angioleiomyoma is rarely thought of before surgery. X-ray, US, MRI, aspiration, scintigraphy, CT and EMG make part of the diagnostic tools available and angioleiomyoma's main characteristics in each of the exams are detailed. Angioleiomyoma cannot be neglected as consequence of delay or mistreatment increases morbidity and the potential risk to malignant transformation.

Incidental superficial soft tissue epithelioid angioleiomyoma.

Epithelioid angioleiomyoma (EALM) is rare in the skin and subcutaneous tissues. To the best of our knowledge, only two previous cases of this tumor have been reported. We document here the case of an 83-year-old woman who underwent complete removal of a squamous cell carcinoma of the retromolar trigone and lymph node dissection of the neck. An incidental EALM was observed in the adipose tissue. The tumor formed a unilocular, poorly demarcated neoplasm measuring 0.3 cm, and showed cavernous angiomatous spaces with villiform growth of large epithelioid cells arranged in clusters. Besides the epithelioid cells of muscular origin, bundles of well-differentiated smooth muscle cells were observed. Epithelioid cells accounted for 70% of the total. The neoplasm originated in the wall of a medium-sized vein. Epithelioid and spindle cells were positive for alpha-smooth muscle actin, calponin, h-caldesmon, and muscle-specific actin. The endothelial cells lining the vascular spaces showed intense and diffuse positivity for CD31 and ERG. The main differential diagnosis includes metastatic carcinoma, melanoma, perivascular epithelioid cell neoplasm, myopericytoma, glomangiomyoma, epithelioid glomus tumor, and epithelioid leiomyosarcoma. This report expands the morphological spectrum of the EALM. Awareness of this uncommon morphologic variant of angioleiomyoma and the use of adequate techniques can avoid misdiagnosis.

Gene Polymorphisms of Interleukin-27 Correlate with the Susceptibility, Severity, and Clinical Outcomes of Elderly People with Guillain-Barré Syndrome.

INTRODUCTION: Guillain-Barré syndrome (GBS) is a common autoimmune disease in the peripheral nervous system. This study aimed to elucidate the role of IL-27 gene polymorphisms in elderly people with GBS. METHODS: A total of 395 healthy subjects and 422 GBS patients with an average age of 63 years old were included in this study. Peripheral blood samples were collected. The 2 single-nucleotide polymorphisms (SNPs) of IL-27, namely, rs153109 and rs785575, of GBS patients were analyzed using the PCR method and compared with those of the healthy controls. The correlations of IL-27 SNPs with disease severity, disease outcome, level of anti-GM1 antibodies, and Campylobacter jejuni infection were assessed. Serum levels of IL-27 of healthy subjects and GBS patients were analyzed using enzyme-linked immunosorbent assay. RESULTS: No significant differences in the frequencies of rs785575 SNPs between GBS and healthy subjects were observed. In analyzing rs153109 SNPs, the G allele was found to be more prevalent in the GBS patients (p = 0.012). More alleles show GG genotype in GBS patients (p = 0.023). The -964A>G allele has a higher prevalence in severely affected and anti-GM1-Ab-positive GBS patients. GBS patients with the rs153109 SNP showed a poor clinical outcome than those without rs153109 SNP (p = 0.012). GBS patients showed higher serum IL-27 levels than healthy subjects (p < 0.001). The levels of IL-27 were also higher in GBS patients with genotypes of AG and GG, and those with GG genotypes showed the highest IL-27 levels. CONCLUSION: The rs153109 SNP is more prevalent in GBS patients with the GG and G allele and is associated with severer GBS, poorer clinical outcomes, and higher IL-27 levels.