A case series of preoperative endovascular embolization of nasopharyngeal angiofibroma.

Nasopharyngeal angiofibroma (NA) is a relatively rare, noncancerous, extremely vascular tumor, and it is only found in males. NA receives blood supply from various sources and can lead to major blood loss after surgical excision. Nowadays, endovascular embolization has the potential to reduce intraoperative bleeding and lower the recurrence rate. This case series aimed to describe the preoperative endovascular embolization of nasopharyngeal angiofibroma. In this study, we reported 3 cases of adolescents with NA diagnosed using CT angiography. All subjects had a successful embolization, which led to minimal postoperative bleeding and good outcome.

Genetic Heterogeneity in Cellular Angiofibromas.

BACKGROUND: Cellular angiofibroma, a rare benign mesenchymal neoplasm, is classified within the 13q/RB1 family of tumors due to morphological, immunohistochemical, and genetic similarities with spindle cell lipoma. Here, genetic data reveal pathogenetic heterogeneity in cellular angiofibroma. METHODS: Three cellular angiofibromas were studied using G-banding/Karyotyping, array comparative genomic hybridization, RNA sequencing, and direct cycling sequencing. RESULTS: The first tumor carried a del(13)(q12) together with heterozygous loss and minimal expression of the RB1 gene. Tumors two and three displayed chromosome 8 abnormalities associated with chimeras of the pleomorphic adenoma gene 1 (PLAG1). In tumor 2, the cathepsin B (CTSB) fused to PLAG1 (CTSB::PLAG1) while in tumor 3, the mir-99a-let-7c cluster host gene (MIR99AHG) fused to PLAG1 (MIR99AHG::PLAG1), both leading to elevated expression of PLAG1 and insulin growth factor 2. CONCLUSION: This study uncovers two genetic pathways contributing to the pathogenetic heterogeneity within cellular angiofibromas. The first aligns with the 13q/RB1 family of tumors and the second involves PLAG1-chimeras. These findings highlight the diverse genetic landscape of cellular angiofibromas, providing insights into potential diagnostic strategies.

Massive cellular angiofibroma of the vulva: a case report.

Cellular angiofibroma is a rare benign mesenchymal tumor, typically occurring in the vulvar region of middle-aged women. This report highlights the importance of histological analysis in diagnosing this uncommon condition and emphasizes its benign nature and straightforward management. We present a case of a 58-year-old North African woman who had a large, well-defined mass in the left labia majora, which had been evolving over 2 years. MRI confirmed the resectability of the tumor by delineating its boundaries. The tumor, despite its slow growth leading to delayed diagnosis, was effectively treated with wide surgical excision. Diagnosis was confirmed through histological and immunohistochemical evaluations, revealing spindle cell proliferation with thick-walled vessels. Cellular angiofibroma, although initially alarming due to its size, is generally managed successfully with surgery and prognosis is favorable with a low risk of recurrence.

Cellular angiofibroma of the female pelvic cavity: a case report.

BACKGROUND: Cellular angiofibroma is a rare benign mesenchymal tumor that mostly occurs in the genital area. Its occurrence outside this region, particularly in the pelvis, is extremely rare. To our knowledge, this study reports the first case of cellular angiofibroma occurring in the pelvic cavity, except for one case reported in the retroperitoneum. CASE PRESENTATION: A 25-year-old female patient with chronic, intermittent, dull pain in the lower abdomen that lasted for several months was referred to our clinic. Imaging studies revealed a tumor in the pelvic cavity anterior to the bladder. The radiographic characteristics of this tumor indicated a hypervascular nature, suggesting the possibility of a pheochromocytoma or a neuroendocrine tumor. The patient underwent surgical excision of the lesion. To date, no recurrence has been observed four months after excision. CONCLUSIONS: Cellular angiofibroma, although rare in the pelvic cavity, should be considered in the differential diagnosis of hypervascular pelvic space-occupying lesions. Immunohistochemical staining can help confirm the diagnosis of this condition. Treatment is generally straightforward, involving local excision of the tumor followed by postoperative monitoring.

Widespread Distribution of Luteinizing Hormone/Choriogonadotropin Receptor in Human Juvenile Angiofibroma: Implications for a Sex-Specific Nasal Tumor.

Juvenile angiofibroma (JA) is a rare, sex-specific, and highly vascularized nasal tumor that almost exclusively affects male adolescents, but its etiology has been controversial. The G protein-coupled hormone receptor LHCGR [luteinizing hormone (LH)/choriogonadotropin (hCG) receptor] represents a promising new candidate for elucidating the underlying mechanisms of sex specificity, pubertal manifestation, and JA progression. We used highly sensitive RNAscope technology, together with immunohistochemistry, to investigate the cellular expression, localization, and distribution of LHCGR in tissue samples from JA patients. Our results provide evidence for LHCGR expression in subsets of cells throughout JA tissue sections, with the majority of LHCGR+ cells located in close vicinity to blood vessels, rendering them susceptible to endocrine LH/hCG signaling, but LHCGR+ cells were also detected in fibrocollagenous stroma. A majority of LHCGR+ cells located near the vascular lumen co-expressed the neural crest stem cell marker CD271. These results are intriguing as both LH and hCG are produced in a time- and sex-dependent manner, and are known to be capable of inducing cell proliferation and angiogenesis. Our results give rise to a new model that suggests endocrine mechanisms involving LHCGR and its ligands, together with autocrine and paracrine signaling, in JA vascularization and cell proliferation.

Unveiling Tuberous Sclerosis in a Diagnosed Patient With Systemic Lupus Erythematosus: A Rare Coincidence.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease presenting a variable clinical course ranging from mild to severe multiorgan dysfunction. While the exact etiology of SLE remains elusive, genetic and environmental factors are known to play crucial roles in its pathogenesis. Similarly, tuberous sclerosis complex (TSC) is a multisystem autosomal dominant genetic condition that manifests as benign hamartomatous proliferation in various organs. We present the case of a 46-year-old woman diagnosed with SLE who exhibited clinical features of TSC two decades after the initial diagnosis of SLE. The definitive diagnosis of TSC was made based on major clinical criteria, including facial angiofibroma and bilateral renal angiomyolipomas. As the patient remained asymptomatic without neurological complications, specific treatment for TSC was not initiated. The coexistence of SLE and TSC is exceedingly rare and has been scarcely reported in medical literature.

Juvenile Nasopharyngeal Angiofibroma: A Series of 96 Surgical Cases.

Introduction Juvenile nasopharyngeal angiofibroma (JNA) is a benign vascularized tumor that affects almost exclusively male adolescents. Surgery is the treatment of choice for JNA. Objectives The present study is a 42-year retrospective review of a series of JNA cases treated surgically without previous embolization. Methods The present is a retrospective, descriptive study based on medical records of 96 patients with JNA who underwent microscopic or endoscopic excision without previous embolization from 1978 to 2020 in a single institution. The patients were categorized according to the Andrews et al. stage, and data were collected on age, gender, tumor staging, surgical approach, affected side, and outcome. Results All patients were male, with an average age of 17 years. The predominant tumor stage consisted of type II, with 52.1%. A total of 33.3% of the patients were submitted to the microscopic technique and 66.7%, to the endonasal technique. The rate of intraoperative blood transfusion was of 17.7%. Conclusion The present study reinforces that resection of JNA in various stages is viable without previous artery embolization.

Juvenile Nasopharyngeal Angiofibroma: A Case Study on the Diagnostic and Surgical Challenges in an Adolescent Male.

A rare and locally aggressive vascular tumor, juvenile nasopharyngeal angiofibroma (JNA) mostly affects male teenagers. This paper describes a 14-year-old male patient who presented with lethargy and recurrent nasal bleeding, which are symptoms of JNA. CT and MRI scans confirmed a vascular mass with a significant local invasion originating from the sphenopalatine foramen. After a CT angiography, which revealed the tumor's large blood supply and helped with efficient excision, a focused surgical strategy was designed. Histopathology verified the benign nature of the tumor, and the operation was successful and the patient had a smooth recovery. This case adds to the little literature on JNA. It highlights the need for healthcare professionals to be aware of the requirement of early identification and careful presurgical preparation in managing the illness.

A Triple Laser Combination Treatment for Facial Angiofibromata Management in Tuberous Sclerosis and Literature Review.

Angiofibromas are a common facial manifestation of tuberous sclerosis (TS). However, current treatments have proven ineffective due to high recurrence rates and noncompliance. To address this issue, we developed a new triple laser therapy protocol for more effective management of angiofibromas. We conducted tests to validate its efficacy. This is a prospective study of 10 patients with TS (4 women and 6 men, mean age 26.3 years [15-37 years]) with angiofibromata who received triple sequential laser therapy at our private dermatological clinic conducted from January 2000 to December 2022. We evaluated the outcome with the Facial Angiofibromata Severity Index (FASI) via clinical photography (0, 6 months, 1 year, and 2 years), and Dermatology Life Quality Index (DLQI). All patients had a successful recovery without any complications. Among these 10 patients, 4 experienced localized recurrences at their 6-month follow-up. These recurrences were treated with a second single carbon dioxide laser session. After 2 years of follow-up, we observed no recurring facial cutaneous manifestations. Furthermore, all patients experienced a decrease in their FASI score after treatment. According to the Visual Analogue Scale, patients reported 95% satisfaction, and DLQI indicated only a minor impact on their everyday lives. We believe that this protocol of three-step laser treatment is effective, safe, and compliable for patients with facial angiofibromata, providing a satisfactory outcome adaptable to the daily dermatological and plastic surgery practice.

[Coblation-assisted endoscopic excision of juvenile nasopharyngeal angiofibroma and outcomes].

Objective:To summarize the procedures and efficacy of surgical treatment for Andrew stage Ⅰ-Ⅲ juvenile nasopharyngeal angiofibroma（JNA）. Methods:A total of 12 patients with JNA who underwent surgery from 2016 to 2021 were enrolled, including 1 case in stage Ⅰ, 3 cases in stage Ⅱ, and 8 cases in stage Ⅲ. JNA was resected by transnasal endoscopic approach alone, or combined with transoral approach or Caldwell-Luc approach was performed. Results:Eleven cases underwent complete resection without recurrence and 1 case had residual tumor. There were no serious complications. The median intraoperative blood loss was 200 mL, and 1 patient received blood transfusion. The median operative time was 110 minutes. Conclusion:JNA in Andrew stage Ⅰ-Ⅲ can be quickly and completely resected by standardized surgical procedures using endoscopy and coblation technology.

Helium Ion Therapy for Advanced Juvenile Nasopharyngeal Angiofibroma.

Helium ion therapy (HRT) is a promising modality for the treatment of pediatric tumors and those located close to critical structures due to the favorable biophysical properties of helium ions. This in silico study aimed to explore the potential benefits of HRT in advanced juvenile nasopharyngeal angiofibroma (JNA) compared to proton therapy (PRT). We assessed 11 consecutive patients previously treated with PRT for JNA in a definitive or postoperative setting with a relative biological effectiveness (RBE) weighted dose of 45 Gy (RBE) in 25 fractions at the Heidelberg Ion-Beam Therapy Center. HRT plans were designed retrospectively for dosimetric comparisons and risk assessments of radiation-induced complications. HRT led to enhanced target coverage in all patients, along with sparing of critical organs at risk, including a reduction in the brain integral dose by approximately 27%. In terms of estimated risks of radiation-induced complications, HRT led to a reduction in ocular toxicity, cataract development, xerostomia, tinnitus, alopecia and delayed recall. Similarly, HRT led to reduced estimated risks of radiation-induced secondary neoplasms, with a mean excess absolute risk reduction of approximately 30% for secondary CNS malignancies. HRT is a promising modality for advanced JNA, with the potential for enhanced sparing of healthy tissue and thus reduced radiation-induced acute and long-term complications.

Total Endoscopic or Endoscope-Assisted Excision of Non-embolized Advanced Juvenile Nasopharyngeal Angiofibroma: A Clinical Case Series.

Background Surgical excision is the primary treatment for juvenile nasopharyngeal angiofibroma (JNA), but this procedure is challenging due to its high vascularity and local aggressiveness. Moreover, preoperative embolization is a subject of debate. Objective The objective of this study is to assess the efficacy, safety, and feasibility of endoscope-assisted excision as a surgical intervention for non-embolized advanced JNA. Materials and methods This case series involved six male patients (mean age: 16 years) with JNA, classified as stages Ⅱc to Ⅲb according to the Radkowski classification. None underwent preoperative embolization. Results Two stage Ⅱc cases underwent total endoscopic endonasal excision. One patient with stage Ⅲa and another with stage Ⅲb underwent surgery via an endoscope-assisted sublabial approach. Two patients, one with stage Ⅱc JNA and another with Ⅲb, underwent a two-stage procedure. Postoperative CT scans showed no residual disease at the six-month mark. On average, each procedure required 1.5 units of blood transfusion. One patient experienced intraoperative bleeding, whereas the remaining patients were free of any major complications. The mean operation duration was 175 minutes per procedure. The mean length of stay at the hospital was 3.75 days per procedure. Conclusion Endoscope-assisted or purely endoscopic approaches can be safely and effectively employed for the complete excision of non-embolized advanced JNAs.

Direct tumoral puncture embolization of onyx before endoscopic endonasal resection of a massive juvenile angiofibroma for a patient with Von Willebrand disease - A case report and review of literature.

INTRODUCTION: Standard treatment of a juvenile angiofibroma (JNA) is surgical resection, usually with an endoscopic endonasal surgery and a preoperative embolization. However, standard intra-arterial embolization may fail to completely devascularize tumors. A novel technique of direct intranasal intratumoral onyx embolization has been described. The aim of this study is to demonstrate the safety and the usefulness of this embolization technique on a pediatric case of JNA and to compare our results to previously reported cases. PRESENTATION OF CASE: A twelve-year-old patient suffering from Von Willebrand disease presented with a voluminous JNA with intracranial extension. Internal carotid artery (ICA) branches partially vascularized the tumor. The patient had two previous incomplete surgical resections, which were preceded by a standard embolization, due to massive perioperative bleeding. DISCUSSION: A direct intratumoral embolization of onyx safely allowed complete tumoral devascularization. Tumoral resection was then completed by an endonasal endoscopic approach. Surgery time was decreased (4,5 h versus 5,5 and 6,5 h) and blood loss were minimized (300 ml versus 1 l and 1,3 l). No complication occurred. Twelve articles previously reported this embolization technique. We present the first reported case of onyx embolization being used for a pediatric patient with a coagulation disorder and a voluminous tumor. CONCLUSION: A direct intratumoral onyx embolization allowed complete resection of a massive JNA, for a patient with Von Willebrand disease. Our data suggest that this technique is safe and may be instrumental for a JNA's resection, even if little vascularization comes from ICA branches.

Combined Direct Tumoral Puncture Embolization with Onyx and Trans-arterial Embolization for JNA.

Onyx is a safe and effective embolic agent to utilize in the treatment paradigm of JNA. We present a tandem approach that combines trans-arterial embolization (TAE) with direct puncture embolization (DPE) with Onyx to limit blood loss and facilitate safe resection. Laryngoscope, 134:3568-3571, 2024.

Validation of the Index for Facial Angiofibromas: Data analysis from a randomized controlled trial of sirolimus gel treatment in patients with tuberous sclerosis complex.

The Index for Facial Angiofibromas (IFA), a novel scoring system for angiofibromas, has been validated in patients with tuberous sclerosis complex (TSC). The objective of this analysis was to further validate the IFA using data from a clinical trial of topical sirolimus in patients with TSC. This was an analysis of photographs from a Phase III trial conducted in Japan (NCT02635789). Patients (n = 62) were randomized 1:1 to receive sirolimus or placebo gel for 12 weeks. Changes in angiofibromas were independently assessed using the primary composite endpoint, the Facial Angiofibroma Severity Index (FASI), and the IFA. Thresholds for a clinically meaningful change in IFA score were evaluated using receiver operating characteristic (ROC) analysis. The IFA scores had good-to-excellent inter-assessor reliability, very high intra-assessor reliability, and could be used to evaluate the distribution of disease severity at baseline. High correlations were observed between the categorized change from baseline in IFA scores and the primary composite endpoint (Kendall's coefficient of concordance, W = 0.8655, p < 0.0001), and between the change from baseline in IFA and FASI scores (Kendall's coefficient of concordance, W = 0.745, p < 0.0001). By ROC analysis, an optimal IFA cut-off point of 1.667 was determined to distinguish patients with markedly improved or improved angiofibromas from those with slightly improved or unchanged angiofibromas (area under the curve 0.937) as determined by the primary composite endpoint. The IFA score is potentially clinically useful because of its high validity and reliability. A decrease in score from baseline of ≥1.667 may be considered clinically meaningful.

Multimodal blood loss prevention bundle for endoscopic resection of juvenile nasopharyngeal angiofibroma: A case series.

Surgery for excision of juvenile nasopharyngeal angiofibroma (JNA) carries the possibility of massive life-threatening haemorrhage. Anaesthetic management aims to maintain haemodynamic stability and reduce blood loss. This case series describes the application of the bundled approach as a multimodal blood loss prevention bundle (MBLPB). Twenty patients underwent 23 surgeries with MBLPB. The blood loss and the number of units of blood transfused were recorded. The surgeon satisfaction score was assessed. The median [interquartile range (IQR)] estimated blood loss was 1300 (650-2350) ml. Patients with tumours in stages I and II had a median (IQR) blood loss of 550 (270-750) ml compared to patients with higher grades of tumours (stages III, IV) with a median (IQR) blood loss of 2100 (1300-2500) ml. Median (IQR) units of packed red cells transfused was 1 (0-3). The surgeon's satisfaction score was high when MBLPB was applied for JNA. However, it does not appear to reduce blood loss markedly.

Role of CD34-immunopositive Microvascular Density in Juvenile Nasopharyngeal Angiofibroma.

Objective: To assess the microvascular density (MVD) in juvenile nasopharyngeal angiofibroma (JNA) with CD34 immunostaining and evaluate its relationship with clinico-demographic features. Methods: This prospective study included patients with JNA undergoing endoscopic excision. The histopathological specimen was stained using CD-34 antibodies to calculate MVD. MVD and clinico-demographic features were correlated. Results: The study included 12 patients with a median age of 15.5 years. The mean MVD was 39 vessels/high power field (range 5 to 151 vessels). MVD was significantly associated only with the volume of tumour (r = 0.65, p = 0.02). The recurrence occurred in one patient with an MVD of 107. The median follow-up was 38 months. Conclusion: MVD is significantly associated with tumour volume in JNA, which implies a robust role of angiogenesis in the pathology of the tumour. Also, higher MVD may be a risk factor for recurrence.

Cellular angiofibroma arising from the rectocutaneous fistula in an adult: A case report.

BACKGROUND: Rectocutaneous fistulae are common. The infection originates within the anal glands and subsequently extends into adjacent regions, ultimately resulting in fistula development. Cellular angiofibroma (CAF), also known as an angiomyofibroblastoma-like tumor, is a rare benign soft tissue neoplasm predominantly observed in the scrotum, perineum, and inguinal area in males and in the vulva in females. We describe the first documented case CAF that developed within a rectocutaneous fistula and manifested as a perineal mass. CASE SUMMARY: In the outpatient setting, a 52-year-old male patient presented with a 2-year history of a growing perineal mass, accompanied by throbbing pain and minor scrotal abrasion. Physical examination revealed a soft, well-defined, non-tender mass at the left buttock that extended towards the perineum, without a visible opening. The initial assessment identified a soft tissue tumor, and the laboratory data were within normal ranges. Abdominal and pelvic computed tomography (CT) revealed swelling of the abscess cavity that was linked to a rectal cutaneous fistula, with a track-like lesion measuring 6 cm × 0.7 cm in the left perineal region and attached to the left rectum. Rectoscope examination found no significant inner orifices. A left medial gluteal incision revealed a thick-walled mass, which was excised along with the extending tract, and curettage was performed. Histopathological examination confirmed CAF diagnosis. The patient achieved total resolution during follow-up assessments and did not require additional hospitalization. CONCLUSION: CT imaging supports perineal lesion diagnosis and management. Perineal angiofibromas, even with a cutaneous fistula, can be excised transperineally.

Paratesticular cellular angiofibroma: a case report.

INTRODUCTION: Paratesticular cellular angiofibroma is a rare benign mesenchymal tumor. The optimal management is surgical resection due to the difficulty of preoperative accurate diagnosis. CASE PRESENTATION: A 51-year-old Japanese male visited our hospital complaining of asymptomatic left scrotal swelling. Physical examination revealed a nontender elastic paratesticular mass (5.5 cm in diameter). Although testicular germ cell tumor was ruled out clinically, the possibility of malignant potential remained for the tumor. Since the patient consented to complete resection, a transinguinal radical orchiectomy was performed. The pathological diagnosis revealed cellular angiofibroma. The patient recovered without perioperative complications, and no apparent recurrence was observed at 5 years after surgery. CONCLUSION: The pathological findings were compatible for cellular angiofibroma. The tumor was successfully resected, and no apparent recurrence was observed at 5 years after surgery.