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.

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.

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.

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.

Acral Calcified Vascular Leiomyoma: Report of 3 Cases and Literature Review.

ABSTRACT: Angioleiomyomas are benign neoplasms, which usually present as solitary, slow-growing nodules on the skin of lower extremities, but acral location on the hands or feet is unusual. Yet, microscopically, they may show many histopathological variants, focal calcification is uncommon. Extensive calcification masquerading the real nature of the tumor has been rarely reported, the term acral calcified leiomyoma having been proposed for this entity. This change is more often in distal locations and has been interpreted as degenerative in nature, probably related to repetitive minor trauma. We report 3 examples of this unusual condition on the feet of 2 male and one female subjects (aged, 68, 69, and 80 years) and make a review of the 31 cases available in the literature. Two of our cases are associated with highly uncommon features, such as transepidermal calcium elimination and concomitant calcaneal spur.

Nipple leiomyoma: A rare neoplasm with a broad spectrum of histologic appearances.

Cutaneous leiomyomas are rare benign smooth-muscle tumors. These lesions are distinguished based on their cell of origin and are subclassified as pilar leiomyoma, angioleiomyoma, and genital-type leiomyoma. Nipple leiomyoma is the least common genital-type leiomyoma, arising from the dartoic muscle cell of the nipple. Histologic examination of the lesion is necessary for definitive diagnosis, and these uncommon tumors can pose a diagnostic challenge. We describe herein a series of six nipple leiomyomas with a spectrum of histologic appearances.

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.

Pediatric Acral Angioleiomyoma: Report of an Unusual Case and Review of the Literature.

BACKGROUND: Angioleiomyoma is a classic painful cutaneous tumor of the limbs of middle aged adults. They are usually a straight-forward histologic diagnosis, being well-circumscribed or encapsulated lesions with both smooth muscle and vascular components. CASE REPORT: We report the case of an angioleiomyoma on the toe of an 8-year-old girl which displayed an unusual plexiform growth pattern. It was treated successfully with surgical excision, with no recurrence at one month. CONCLUSIONS: Angioleiomyoma is uncommon in children, particularly at acral sites. We describe the first such lesion to display a plexiform growth pattern.

An uncommon cause of lower leg pain.

This article describes a patient with intense pain originating from a benign tumor on her leg. After 7 years of enduring this painful condition with no correct diagnosis, the patient finally underwent a biopsy and excision, which revealed the growth was an angioleiomyoma.

ANGIOMYOMA OF THE UPPER LIP - CASE REPORT AND REVIEW OF THE LITERATURE.

A case is presented of upper lip angiomyoma in a 36-year-old man. The tumor was painless, palpable and clinically visible. The operation was performed under local anesthesia in the Outpatient Department. There were no complications during the postoperative course. Current literature on the subject is listed in the introduction, followed by presentation of the case and histologic characteristics of the tumor. This case is described as one of the differential diagnostic possibilities in the diagnosis of soft tissue tumors of the lip. Also, through review of the literature, different clinical appearances of angiomyoma, histologic variations and immunohistochemical characteristics are discussed that can help identify this tumor.

Atypical localization of intraosseous angioleiomyoma in the rib of a pediatric patient: a case report.

BACKGROUND: This is the first reported case of a primary intraosseous angioleiomyoma and the second case of a primary leiomyoma of the rib, irrespective of age. Angioleiomyomas mostly occur in patients of advanced age, in any part of the body, particularly the lower extremities and present as painful, slow-growing nodules in the dermis, subcutaneous fat or deep fascia. Other localizations, especially bone, are considered extremely rare, as well as their occurrence in paediatric patients. CASE PRESENTATION: A 10-year-old girl was admitted to the orthopaedic surgery department for further assessment of a pain localized in the posterior part of the right hemithorax. After magnetic resonance imaging (MRI) and surgical biopsy, intraosseus angioleiomyoma of the fourth rib was diagnosed by histopathology examination. Atypical costal localization of this type of a benign tumour presents diagnostic difficulty, especially in children. The differential diagnoses included cartilaginous tumours, Ewing sarcoma, fibrous dysplasia, Langerhans cell histiocytosis, intraosseous haemangioma and metastatic tumours. We report a detailed diagnostic procedure including MRI, selective angiography and histopathologic examination. CONCLUSION: Diagnosis of intraosseous angioleiomyoma is difficult due to the extreme rarity of this tumour and absence of pathognomonic radiological signs. Although very rarely identified in bones and young age group, radiographers and reporting doctors should be aware of this possible angioleiomyoma presentation and supported by the provided detailed diagnostic information.

Giant angioleiomyoma of the sacral foramina: an unusual location.

Angioleiomyoma is a benign, vascular smooth muscle tumor originating from the tunica media of the vessel wall. In general, it typically arises in the cutaneous, subcutaneous tissue or fascia of the lower extremities in middle-aged women and is less than 2 cm in diameter. We report an unusual case of an angioleiomyoma of the sacral foramina in an 82-year-old man. MRI revealed a well-defined irregular-shaped deep-seated mass in the sacral foramina, showing branching pattern of growth associated with pressure bony erosion of the adjacent bones, with isointense to hypointense signal on T2-weighted images. Surgical excision was performed and the mass was diagnosed as angioleiomyoma on pathological examination. To the best of our knowledge, there has been no report of an angioleiomyoma involving the sacral foramina.

A Case of Vascular Leiomyoma Causing Osseous Malformations in the Foot.

A vascular leiomyoma is a vascular soft tissue tumor that is relatively rare and benign. They usually occur as solitary lesions and are well encapsulated. The present study describes a unique case of vascular leiomyoma causing erosions of a metatarsal secondary to compression from the tumor. We present a female in her fourth decade of life with osseous malformations of the third metatarsal that became painful after an acute trauma to the foot.

Clinicopathologic and immunohistochemical characterization of 14 cases of angioleiomyomas in oral cavity.

BACKGROUND: Angioleiomyoma (ALM) is a benign neoplasm that originates from vascular smooth muscle. It is extremely rare in oral cavity. The objective of this study was to evaluate the clinicopathological and immunohistochemical characteristics of all oral angioleiomyomas registered in a Center of Diagnosis of Oral Diseases from 1959 to 2017. MATERIAL AND METHODS: Slides from 14 cases of ALM stained with hematoxylin and eosin (H&E) were analyzed to confirm the diagnosis. Moreover, an immunohistochemical panel with alpha-smooth muscle actin (alpha-SMA), desmin, AE1/AE3, CD68, S-100, and CD34 antibodies was performed to evaluate semi-quantitatively the positive cells. RESULTS: ALM correspond to 0.08% of all benign oral tumors analyzed during the 57-year period. The mean age of the patients was 45 years with a predilection to males (58%). The most frequently reported site was lips (50%). Microscopic analysis on H&E sections revealed similar pattern in all cases, showing well-circumscribed and encapsulated tumors, characterized by a proliferation of smooth muscle cells and wide vascular spaces of varying sizes. The predominant immuno profiles were: alpha-smooth muscle actin (alpha-SMA) positive (strong immunoreactivity); positive variable pattern for desmin, negative immunoprofile for AE1/AE3, CD68, and S-100. The endothelial cells of vascular spaces were CD34+. CONCLUSIONS: Based on the results, the alpha-SM actin can be elected as a good marker for angioleiomyomas and can help the confirmation of the morphologic diagnosis of this lesion.

Angiomyofibroblastoma of the Broad Ligament: A Case Report.

Angiomyofibroblastoma (AMF) is a distinctive, rare, benign mesenchymal tumor that often occurs in the lower genital region of women. The most commonly reported location of an AMF is in the vulvovaginal area. We describe a rare case of an AMF located in the broad ligament in a 47-yr-old woman. The patient experienced menorrhagia, dysmenorrhea, and subsequent menstrual spotting. She sought help at the National Cheng Kung University Hospital. Ultrasonography showed an echo-complex mass in the left adnexal area. The patient underwent laparoscopic surgery to remove the soft tissue mass located in the left broad ligament. The final pathology of the mass was reported as an AMF. We reviewed all of the AMF cases reported in the English-language literature found in Pubmed. This case is the first of AMF located in the broad ligament.

Lipomatous Angiomyofibroblastoma of the Vulva: Report of a Rare Variant.

Angiomyofibroblastoma is a rare and benign tumor that usually involves vulvovaginal area in women of reproductive age and early menopause. We report a lipomatous angiomyofibroblastoma in a 55-year-old multigravid woman. This tumor measured 9 cm in size and contained prominent mature adipose tissue that comprised approximately 50% of the tumor.

Acral and digital angioleiomyomata: 14-year experience at the Cleveland Clinic and review of the literature.

BACKGROUND: Angioleiomyoma is a benign neoplasm thought to derive from the tunica media of small venous vessels. Angioleiomyomata most frequently occur in the lower extremities with less common occurrences on the trunk, head and upper extremities. Few cases of acral and digital angioleiomyoma have been described in the literature. METHODS: We add a series of 21 patients with acral angioleiomyoma including 6 cases of digital angioleiomyoma to the body of clinical and histological findings along with a review of the literature of digital angioleiomyomata. RESULTS: Digital angioleiomyoma are equally distributed between male and female patients and are more often painful than the angioleiomyoma of all body sites. Acral angioleiomyomata favor the feet over hands at a ratio of 2.5:1, while digital angioleiomyoma favor the fingers over toes at a ratio of 4.3:1. CONCLUSIONS: We suggest that vascular leiomyoma be included in the differential diagnosis of smooth muscle tumors with particular regard to the digits of both the hands and the feet. Digital angioleiomyomata differ from acral angioleiomyomata in their equal gender distribution, increased tendency to cause pain and preponderance for the fingers over the toes.

Vascular leiomyoma of the nasal cavity: case report and literature review.

We report a case of a 54-year-old man with an angioleiomyoma originating from the right nasal floor. Nasal vascular leiomyomas are extremely rare tumours. A review of the literature revealed a limited number of cases of vascular leiomyoma in the nasal cavity. Clinically, they are characterised by nasal obstruction, epistaxis or pain as the primary symptom. Up to our knowledge, this is the first case in which a 3D CT scan was performed preoperatively. 3D CT scan reconstructions can show the delineation of the tumour very accurately helping to establish the therapeutic plan for removal. The definite diagnosis can only be confirmed by histopathology. Histopathologically, a vascular leiomyoma demonstrates proliferation of smooth muscle cells intermingled with dilated venous vessels.