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.

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.

Angioleiomyoma of the extremities: correlation of magnetic resonance imaging with histopathological findings in 25 cases.

OBJECTIVE: To identify the characteristic magnetic resonance imaging (MRI) findings in angioleiomyoma and to clarify its relationship with histopathological findings. MATERIALS AND METHODS: We retrospectively analyzed the MRI findings and pathological subtypes in 25 patients with subcutaneous angioleiomyoma of the extremities. Based on the previous reports, MRI findings that could be characteristic of angioleiomyoma were extracted. According to the World Health Organization classification, all cases were classified into three pathological subtypes: solid, venous, and cavernous. The relationship between MRI findings and pathological subtypes was analyzed. RESULTS: The pathological subtypes were solid (n = 10), venous (n = 11), and cavernous (n = 4). The following MRI findings were observed: (a) hypo- or iso-intense linear and/or branching structures on a T2-weighted image (positive total/solid/venous/cavernous: 19/5/10/4, respectively), which we defined as "dark reticular sign"; (b) peripheral hypointense rim on a T2-weighted image (positive total/solid/venous/cavernous: 19/7/8/4, respectively); and (c) presence of any adjacent vascular structures (positive total/solid/venous/cavernous: 6/3/3/0, respectively). Chi-square test showed a significant relationship between dark reticular sign and pathological subtypes (p = 0.0426). The dark reticular sign was found more frequently in the venous and cavernous types than in the solid type. The other MRI findings did not reveal a significant relationship between pathological subtypes. CONCLUSION: We present the largest case series exploring MRI findings in angioleiomyoma. The dark reticular sign was a characteristic MRI finding of angioleiomyoma and was seen in most of the venous and cavernous types, which may facilitate preoperative diagnosis.

A rare case of lacrimal sac angioleiomyoma managed with dacryocystectomy and turbinectomy.

We report a rare case of a lacrimal sac angioleiomyoma. A 56-year-old woman complained of pain in the right medial canthal region over a period of 2 years. There were no complaints of epiphora or ocular infection, and no visible or palpable masses in the medial canthal region. Computed tomography scan revealed a solid tumor of the lacrimal sac expanding to the nasolacrimal duct and protruding under the inferior turbinate. The tumor was removed by external dacryocystectomy combined with endonasal, endoscopic anterior turbinectomy, and nasal mucosal resection. Histological and immunohistological findings were consistent with an angioleiomyoma of the venous type. There was no recurrence of the tumor at the three-year follow-up. Angioleiomyomas should be included in the differential diagnosis of lacrimal sac tumors. The definitive diagnoses rely on histology and immunohistological reactions. The treatment is complete surgical resection.

Angioleiomyoma of the nasolacrimal duct: case report and literature review.

Angioleiomyomas are benign tumors composed of smooth muscle and vascular endothelium. While infrequent in overall prevalence, they are exceptionally rare in the head and neck. Herein, we describe the case of a 65-year-old female who was found to have an angioleiomyoma of the right nasolacrimal duct. Endoscopic excision of the lesion along with medial maxillectomy and dacryocystorhinostomy was performed without complication. The current report is one of the few reported cases of angioleiomyoma of the lacrimal drainage system.

Inclusion bodies are not uncommon in angioleiomyoma.

BACKGROUND: Leiomyomas with eosinophilic intracytoplasmic inclusion bodies have been described in the urinary bladder, brain, gastrointestinal tract, uterus, and oral cavity but not in the skin. Prompted by our recent experience with a case of cutaneous angioleiomyoma with many inclusion bodies, we hypothesized that similar cases might have been previously overlooked. METHODS: We retrospectively reviewed 30 cases of angioleiomyoma and 10 cases of piloleiomyoma focusing on inclusion bodies. RESULTS: More than 18 inclusion bodies per 250 µm squared were detected in five cases of angioleiomyoma, fewer than 11 bodies in 20 cases, and none in five cases. For the case with numerous inclusion bodies throughout the specimen, special staining was needed to make a diagnosis. No inclusion bodies were found in the piloleiomyomas. CONCLUSION: Inclusion bodies are relatively common in angioleiomyomas and can occasionally be numerous. They may serve as a point of distinction from piloleiomyomas. Because the presence of multiple eosinophilic intracytoplasmic inclusions can result in a rhabdoid appearance and make diagnosis challenging, we should be aware of this feature in angioleiomyomas.

A rare case of orbital angioleiomyoma.

A 65-year old woman presented with 3-year history of painless, gradual swelling of the right upper eyelid associated with proptosis. Computed tomography (CT) and magnetic resonance imaging (MRI) of the orbit showed a well circumscribed soft tissue mass in the supero-lateral orbit. An excision biopsy of the lesion was performed via lateral orbitotomy. Histopathology examination and immunochemistry staining confirmed the diagnosis of cavernous angioleiomyoma. The tumour was excised completely. Orbital angioleiomyoma is a rare benign tumour and the lesion can cause visual morbidity, particularly when intraconal. Despite sophisticated imaging modalities, histopathological analysis is essential for diagnosis. Angioleiomyoma should be included in the differential diagnosis of well-defined orbital lesions. Complete surgical excision carries a low risk of recurrence.

Computed tomography evaluation of extensive intravenous angioleiomyoma: a case report.

BACKGROUND: Uterine angioleiomyoma is a rare variant of leiomyoma, and the main therapy is complete surgery. This study introduces the benefit of three-dimensional computed tomography reconstruction for preoperative preparation. CASE PRESENTATION: A 50-year-old woman presented because of chest distress after activity, with worsening symptoms. After examination, the final diagnosis was uterine angioleiomyoma. The tumour originated in the uterus; grew into the right iliac vein; coursed along the iliac vein, inferior vena cava, and right atrium; and finally invaded the right ventricle. To best complete the surgery, a multidisciplinary surgery was selected. Before the surgery, a three-dimensional computed tomography reconstruction model was created to assess the tumour status, and this model enabled the surgery to be completed successfully. CONCLUSION: Three-dimensional computed tomography reconstruction is of great significance for the preoperative diagnosis of uterine angioleiomyoma and the formulation of surgical treatment plans. Based on its vivid images, surgeons can perform operations more effectively and safely.

Angioleiomyoma of the lumbo-sacral region with unusual keloid-like collagen fibers.

Angioleiomyoma is a benign soft tissue tumor which usually occurs in superficial or deep soft tissues. Only rarely does this tumor occur at unusual sites, including retroperitoneum. We present a rare case of lumbo-sacral angioleiomyoma in a 54-year-old man. Apart from this unusual site, the most striking morphological feature was the presence of numerous keloid-like collagen fibers interspersed among the fascicles of the neoplastic cells. Radiological, morphological and immunohistochemical features are presented, and differential diagnosis with its potential morphological mimickers is discussed.

Angioleiomyoma of the Extremities: Findings on Ultrasonography and Magnetic Resonance Imaging.

OBJECTIVES: The purpose of this study was to describe the features of angioleiomyomas of the extremities on ultrasonography (US) and magnetic resonance imaging (MRI). METHODS: We retrospectively reviewed the US and MRI findings of 29 pathologically confirmed cases of angioleiomyomas of the extremities in 29 patients. Twenty patients underwent only US; 7 patients underwent only MRI; and 2 patients underwent US and MRI. Clinical data and histopathologic specimens were reviewed. RESULTS: There were 19 women and 10 men. The mean patient age was 48.9 years (range, 23-80 years). On US, angioleiomyomas were located primarily in the subcutaneous fat layer (n = 20 [91%]), were oval (n = 17 [77%]), had well-circumscribed margins (n = 22 [100%]), had hypoechoic protrusions on one or both ends (n = 9 [41%]), had a homogeneous echo texture (n = 17 [ 77%]), had posterior acoustic enhancement (n = 20 [91%]), and had color Doppler flow (n = 20 [91%]). On MRI, the masses showed heterogeneous enhancement (n = 7 [88%]) and enhancing structures on one or both ends (n = 4 [50%]) on contrast-enhanced T1-weighted images. CONCLUSIONS: Angioleiomyoma of the extremities is usually a well-circumscribed oval mass with a homogeneous echo texture and occasionally hypoechoic protrusions on US and shows heterogeneous enhancement with occasionally enhancing structures on one or both ends of the mass on MRI. Therefore, it should be included in the differential diagnosis of a soft tissue mass that has protruding structures from one or both ends.

Pericytes in Sarcomas and Other Mesenchymal Tumors.

Tumors of mesenchymal origin are a diverse group, with >130 distinct entities currently recognized by the World Health Organization. A subset of mesenchymal tumors grow or invade in a perivascular fashion, and their potential relationship to pericytes is a matter of ongoing interest. In fact, multiple intersections exist between pericytes and tumors of mesenchymal origin. First, pericytes are the likely cell of origin for a group of mesenchymal tumors with a common perivascular growth pattern. These primarily benign tumors grow in a perivascular fashion and diffusely express canonical pericyte markers such as CD146, smooth muscle actin (SMA), platelet-derived growth factor receptor beta (PDGFR-ß), and RGS5. These benign tumors include glomus tumor, myopericytoma, angioleiomyoma, and myofibroma. Second and as suggested by animal models, pericytes may give rise to malignant sarcomas. This is not a suggestion that all sarcomas within a certain subtype arise from pericytes, but that genetic modifications within a pericyte cell type may give rise to sarcomas. Third, mesenchymal tumors that are likely not a pericyte derivative co-opt pericyte markers in certain contexts. These include the PEComa family of tumors and liposarcoma. Fourth and finally, as "guardians" that enwrap the microvasculature, nonneoplastic pericytes may be important in sarcoma disease progression.

A giant superinfected uterine angioleiomyoma with distant septic metastases: an extremely rare presentation of a benign process and a systematic review of the literature.

PURPOSE: Uterine angioleiomyoma is a rare type of leiomyoma variant and there are few cases reported in the literature. The definitive diagnosis is usually obtained only after the histopathologic examination because there are no specific imaging criteria for this disease. The objective of this article is to review published cases about this clinical condition. METHODS: We report a case of giant angioleiomyoma superinfected by S. agalactiae with the development of latero-cervical distant metastasis in a premenopausal woman. Firstly, the case herein reported was orientated as an endometrial stroma sarcoma in the peri-operative histologic examination by frozen sections. It was treated with laparotomic total hysterectomy, bilateral salpingo-oophorectomy, inframesocolic omentectomy and pelvic and paraaortic lymph node dissection. Postoperative definitive anatomopathological analyses using a proper immunohistochemical panel revealed a case of uterine angioleiomyoma. We also review other case reports published about this clinical condition. RESULTS: We present the first case reported in the literature, in our knowledge, of a giant angioleiomyoma superinfected by S. agalactiae with the development of distant septic metastases. Immunohistochemistry permitted the definitive diagnosis of angioleiomyoma. Treatments previously reported are hysterectomy or tumor resection and any patient recurred. CONCLUSIONS: The definitive diagnosis is usually obtained after the definitive histopathologic examination since the use of immunohistochemical study has an important role in this regard. Complete surgical removal of the lesion is the treatment of choice, with no recurrent cases reported to date.

Leiomyoma of the Foot: A Case Report and Literature Review.

Leiomyomas within the foot are rare occurrences that are difficult to diagnose clinically and radiographically. They are benign and tend to be slow growing, often with minimal or no pain. We present an unusual case of a worker's compensation patient who presented with a new-onset mass within his foot that was thought to be a fibroma, but was later discovered to be a fast-growing leiomyoma after surgical excision. We also present a review of the literature regarding leiomyomas within the foot and ankle.