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Journal of Obstetrics and Gynaecology... Jun 2021Retroperitoneal intravenous leiomyomatosis is a rare benign tumor that can spread through veins carrying significant morbidity. The challenge of its management lies... (Review)
Review
Retroperitoneal intravenous leiomyomatosis is a rare benign tumor that can spread through veins carrying significant morbidity. The challenge of its management lies within the complexity of completely excising the tumor, which if carried out improperly can result in neurological or vascular complications requiring complex reparative surgeries. Here we present the successful resection of a retroperitoneal angio-leiomyoma by combining laparoscopic route, micro-surgical techniques and modern endoscopic tools.
PubMed: 34404967
DOI: 10.1007/s13224-020-01404-7 -
Ear, Nose, & Throat Journal Dec 2020
Topics: Angiomyoma; Epistaxis; Humans; Male; Medical Illustration; Middle Aged; Nasal Cavity; Nasal Obstruction; Paranasal Sinus Neoplasms
PubMed: 31272210
DOI: 10.1177/0145561319858913 -
Cureus Oct 2021Angiomyomas are benign tumors derived from smooth muscle cells of vessels. They are principally a pathology of the peripheral nervous system where they involve cutaneous...
Angiomyomas are benign tumors derived from smooth muscle cells of vessels. They are principally a pathology of the peripheral nervous system where they involve cutaneous nerves, causing pain and paresthesia. We present a case of a lateral femoral cutaneous nerve angiomyoma and its surgical treatment. A 24-year-old female presented to clinic with right thigh pain in the distribution of the lateral femoral cutaneous nerve, which had been ongoing and progressive for seven months. There was associated numbness and tingling. A lesion was noted in the anterior subcutaneous tissues of the thigh on contrasted CT and MRI. The patient was taken to the operating room where a pearly white lesion was found within the subcutaneous tissue. No effect was seen with stimulation of the lesion. The lesion was removed en bloc, and pathological analysis revealed an angiomyoma. Post-operatively, the patient reported complete resolution of all symptoms, namely, pain and paresthesia. No similar reports were identified within the literature. Together, angiomyomas have been described within the lower extremities to cause pain and paresthesia. This is the first reported case of an angiomyoma involvement within the lateral femoral cutaneous nerve. Complete surgical resection, in this case, was curative and diagnostic.
PubMed: 34790481
DOI: 10.7759/cureus.18726 -
Cancer Genomics & Proteomics 2023Angioleiomyoma is a benign tumor, occurs at any age, and arises most frequently in the lower extremities. Genetic information on angioleiomyomas is restricted to six...
BACKGROUND/AIM
Angioleiomyoma is a benign tumor, occurs at any age, and arises most frequently in the lower extremities. Genetic information on angioleiomyomas is restricted to six reported abnormal karyotypes, losses in chromosome 22 and gains in Xq found by comparative genomic hybridization, and mutation analysis of notch receptor 2 (NOTCH2), NOTCH3, platelet-derived growth factor receptor beta (PDGFRB), and mediator complex subunit 12 (MED12) in a few tumors. Herein, we report the genetic findings in another three angioleiomyomas.
MATERIALS AND METHODS
The tumors were examined using G-banding and karyotyping, RNA sequencing, reverse transcription-polymerase chain reaction, Sanger sequencing, and expression analysis.
RESULTS
The first tumor carried a t(4;5)(p12;q32) translocation resulting in fusion of the cardiac mesoderm enhancer-associated non-coding RNA (CARMN in 5q32) with the TXK tyrosine kinase gene (TXK in 4p12) leading to overexpression of TXK. To our knowledge, this is the first time that a recurrent chromosome translocation and its resulting fusion gene have been described in angioleiomyomas. The second tumor carried a four-way translocation, t(X;3;4;16)(q22;p11;q11;p13) which fused the myosin heavy chain 11 gene (MYH11 in 16p13) with intergenic sequences from Xq22 that mapped a few kilobase pairs distal to the insulin receptor substrate 4 gene (IRS4), resulting in enhanced IRS4 expression. The third angioleiomyoma carried another rearrangement of chromosome band Xq22, t(X;9)(q22;q32), as the sole cytogenetic aberration, but no material was available for further molecular investigation.
CONCLUSION
Our data, together with previously reported abnormal karyotypes in angioleiomyomas, show the presence of two recurrent genetic pathways in this tumor type: The first is characterized by presence of the translocation t(4;5)(p12;q32), which generates a CARMN::TXK chimera. The second is recurrent rearrangement of Xq22 resulting in overexpression of IRS4.
Topics: Humans; Angiomyoma; Comparative Genomic Hybridization; Chromosome Aberrations; Translocation, Genetic; Transcription Factors; Abnormal Karyotype
PubMed: 37889065
DOI: 10.21873/cgp.20405 -
International Journal of Surgery Case... Jul 2023Angiomyoma is a rare benign tumor that can occur in any organ with smooth muscles. No one has already described an angiomyoma of the ureter.
BACKGROUND
Angiomyoma is a rare benign tumor that can occur in any organ with smooth muscles. No one has already described an angiomyoma of the ureter.
CASE PRESENTATION
We report the case of a 44 year old woman who presented with intermittent hematuria and left flank pain. The diagnosis of left ureteral tumor was evoked by the scannographic aspect. She underwent a radical nephro-ureterectomy. Final histological examination concluded to ureteral angiomyoma.
DISCUSSION
Angiomyoma is rare benign smooth muscle tumor with a vascular component. Symptomatology depends on the organ that angiomyoma is developed from, and is usually mimicking malignant tumors.
CONCLUSION
Symptomatology, radiologic findings are mimicking urothelial carcinomas, however the pathology corrected the diagnostic error.
PubMed: 37320976
DOI: 10.1016/j.ijscr.2023.108360 -
Clinical Case Reports Sep 2022We describe a rare case of angioleiomyoma in the foot of a middle-aged man.
We describe a rare case of angioleiomyoma in the foot of a middle-aged man.
PubMed: 36188035
DOI: 10.1002/ccr3.6079 -
The American Journal of Case Reports Feb 2023BACKGROUND Primary hepatic angioleiomyoma is a rare mesenchymal tumor that is characterized by blood vessels and smooth muscle. Herein, we report an extremely rare case...
BACKGROUND Primary hepatic angioleiomyoma is a rare mesenchymal tumor that is characterized by blood vessels and smooth muscle. Herein, we report an extremely rare case of primary hepatic angioleiomyoma and discuss the clinicopathological features. CASE REPORT A 60-year-old Mongolian man was diagnosed with a hepatic tumor in the second and third segments of screening in 2012. It had been under control by a physician for 10 years. The patient had discomfort and vague pain in the right side of the abdomen since April 2022. Hepatitis virus markers (hepatitis B and hepatitis C) were negative. Plain computed tomography revealed an 80-mm solitary liver lesion in the left lobe with well-defined margins and heterogeneous enhancement. A left hepatectomy was performed in May 2022. The cut surface of the tumor showed a grayish-white, elastic, hard mass with a diameter of 50×80 mm. Histological findings of the tumor revealed that it was clearly demarcated from the surrounding liver tissues with relatively clear boundaries showing thick, muscle-coated blood vessels with perivascular smooth muscle bundles. Immunohistochemical staining showed that the smooth muscle cells were strongly diffuse and positive for smooth muscle actin. CONCLUSIONS Clinically, primary hepatic angioleiomyoma should be distinguished from other types of liver tumors, especially liver cancer. In combination with our long-term observation and other case reports, we recommend general follow-up if the preoperative pathological diagnosis can be confirmed and the patient has no other symptoms.
Topics: Male; Humans; Middle Aged; Angiomyoma; Liver Neoplasms; Hepatectomy; Abdominal Cavity
PubMed: 36805667
DOI: 10.12659/AJCR.938645 -
The Journal of International Medical... Jun 2020This study was performed to analyze the clinical, radiographic, and pathological features of hand angioleiomyoma causing nerve compression and assess the outcomes of...
OBJECTIVE
This study was performed to analyze the clinical, radiographic, and pathological features of hand angioleiomyoma causing nerve compression and assess the outcomes of surgical excision.
METHODS
This case series included three men and one woman (mean age, 53.3 years; range, 49-56 years). The patients' chief complaint was numbness of the fingers. The patients' medical histories were reviewed, and the diagnosis of angioleiomyoma with nerve compression was confirmed by means of imaging examination and pathological analysis.
RESULTS
Three tumors occurred in the palm and one in the finger, and the average maximum tumor diameter was 1.8 cm (range, 0.8-2.6 cm). Preoperative magnetic resonance imaging demonstrated well-defined masses with isointense signals on T1 sequences, hyperintense signals on T2 sequences, and strong heterogeneous enhancement after injection of contrast material. All tumors were located near nerves, leading to nerve compression. The diagnosis of angioleiomyoma was confirmed by postoperative pathology. Finger sensation recovered and no recurrence was found during an average follow-up of 37 months (range, 25-59 months).
CONCLUSIONS
Angioleiomyoma should be considered among the differential diagnoses of hand tumors and timely resection should be performed, particularly if the mass is causing numbness and/or pain with positive Tinel's sign and/or tenderness.
Topics: Angiomyoma; Contrast Media; Female; Hand; Humans; Hypesthesia; Magnetic Resonance Imaging; Male; Middle Aged; Peripheral Nerve Injuries
PubMed: 32567422
DOI: 10.1177/0300060520928683 -
Modern Pathology : An Official Journal... Mar 2023Pericytic tumors are subclassified as myopericytomas, myofibromas, angioleiomyomas, and glomus tumors according to the current World Health Organization classification....
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.
Topics: Humans; Myopericytoma; Angiomyoma; Glomus Tumor; Myofibroma; Receptor, Platelet-Derived Growth Factor beta; Mutation; Receptor, Notch3
PubMed: 36788105
DOI: 10.1016/j.modpat.2022.100070 -
Ear, Nose, & Throat Journal Dec 2020Angioleiomyoma is a benign smooth muscle and vessel tumor; laryngeal localization is extremely rare with only 24 cases described in the literature; moreover, it should... (Review)
Review
Angioleiomyoma is a benign smooth muscle and vessel tumor; laryngeal localization is extremely rare with only 24 cases described in the literature; moreover, it should be considered in the differential diagnosis of laryngeal mass. Endoscopic complete surgical excision with dissection along capsule is now considered the gold-standard treatment for small and well-circumscribed laryngeal angioleiomyoma. We present a case of laryngeal angioleiomyoma successfully treated with carbon dioxide laser technology which resulted in a bleeding reduction and adequate hemostasis with less tissue damage and good functional outcome.
Topics: Aged; Angiomyoma; Humans; Laryngeal Neoplasms; Larynx; Lasers, Gas; Male; Medical Illustration; Rare Diseases
PubMed: 32603184
DOI: 10.1177/0145561320934930