A Rapidly Expanding Hemorrhagic BRAF-Mutant Orbital Atypical Glomus Tumor.

A healthy 32-year-old woman presented with the acute onset of left sided eye pain, upper eyelid fullness, and binocular diplopia during light weightlifting. Examination elevated intraocular pressure, proptosis, upper eyelid ptosis, and motility deficits. CT demonstrated a well-circumscribed, homogeneous-appearing extraconal mass in the superior left orbit. The patient underwent an urgent orbitotomy with the excision of a hemorrhagic mass. Histopathology showed a glomus tumor with atypical features and hemorrhagic infarction, best classified as having uncertain malignant potential. A B-Raf proto-oncogene V600E mutation was detected with immunohistochemistry, which suggests a more aggressive tumor behavior yet presents an opportunity for targeted primary or adjunctive therapy. This is the first reported case of a B-Raf proto-oncogene-mutant atypical glomus tumor arising in the orbit.

Digital Glomus Tumor - A Commonly Undiagnosed Cause of Finger Pain: Case Report.

Glomus tumors are rare vascular hamartomas most commonly found in the subungual region of the fingers. They present with a classic triad of paroxysmal pain, point tenderness, and cold sensitivity. The diagnosis is often missed for several years due to under recognition of this condition. A 42-year-old female presented with a several year history of pain in the middle finger when it was struck or exposed to cold. She had point tenderness on the fingernail, and increased curvature of the nail. Magnetic Resonance Imaging (MRI) revealed a 7mm subungual glomus tumor. The tumor was surgically excised via a transungual approach, resulting in complete relief of her pain. Glomus tumors are diagnosed clinically based on the presence of classic symptoms and positive provocative tests. These tests include point tenderness on palpation and pain when ice is placed on the digit. MRI imaging can be used when the diagnosis is unclear or to localize the tumor prior to surgery. Increased awareness of this condition among physicians could reduce the time to diagnosis and treatment.

Gastrointestinal Glomus Tumors: A Single Institution, 20-Year Retrospective Study.

INTRODUCTION: Glomus tumors are rare mesenchymal neoplasms composed of cells resembling those of the thermoregulatory glomus body, typically occurring in the skin and superficial soft tissues. Rarely do they occur in the gastrointestinal tract, in particular the stomach, where they have been the subject of case reports and small series. We present our institutional experience with gastrointestinal glomus tumors. METHODS: A retrospective review of all gastrointestinal glomus tumors was conducted across all three Mayo Clinic sites in Minnesota, Arizona, and Florida from 2001 to 2021. Patient characteristics, pathologic findings, imaging features, operative reports, and clinical outcomes were abstracted. Descriptive statistics were utilized to report outcomes. RESULTS: Nine patients with glomus tumors were identified (five men and four women). The median age was 53 [interquartile range (IQR), 44-69] y. Four patients presented with abdominal discomfort, three had anemia or bleeding, and two tumors were incidentally diagnosed. Computed tomography scans identified masses thought to represent gastrointestinal stromal tumors or neuroendocrine tumors in all patients. The tumors were localized to the stomach in all cases, specifically in the gastric antrum. Seven patients underwent preoperative endoscopy, including five with endoscopic ultrasonography. Endoscopic biopsies were interpreted as glomus tumors (n = 3), neuroendocrine tumors (n = 2), and nondiagnostic (n = 2). All patients underwent open (n = 3) or minimally invasive (n = 6) margin-negative resection by wedge resection (n = 5) or distal gastrectomy (n = 4). No nodal metastases were identified radiographically or on pathologic examination. The median tumor size was 2.5 [IQR 1.3-3.4] cm. All tumors showed at least in part typical glomus tumor morphology and smooth muscle actin expression. Aberrant synaptophysin expression was present in the two tumors initially classified as NET. Using the current WHO criteria, tumors were classified as histologically malignant (n = 1) and of "uncertain malignant potential" (n = 8). At a median follow-up of 15 [IQR 1-56] mo, all patients were asymptomatic and without recurrence. Two patients died of unrelated causes. No patients received adjuvant therapies. CONCLUSIONS: Our 20-year, single institution, 3-site experience with resected gastrointestinal glomus tumors suggests the rarity, predisposition to involve the gastric antrum, and potentially an indolent clinical behavior of many of these tumors. Long-term follow-up is warranted as some previously reported gastric glomus tumors have metastasized, including cases lacking morphologic evidence of malignancy. Surgical resection, with minimally invasive wedge resection alone, is likely sufficient for the management of most gastric glomus tumors.

Glomus Tumor of the Stomach: A Systematic Review and Illustrative Case Report.

INTRODUCTION: Glomus tumor (GT) is a rare mesenchymal neoplasm that can be found anywhere throughout the body, including the stomach. Our goal was to present a case and a systematic review of the literature, reporting clinical, radiological, surgical, and pathological features of the disease. METHODS: We reviewed Pubmed and SCOPUS for all case reports and case series published after 2000. Papers written in languages different from English and letters to the editor were excluded. Screening and data extraction were performed following the PRISMA guidelines. RESULTS: A total of 89 studies were included in the systematic review, consisting of 187 cases of gastric glomus tumor. Mean age was 52 (18-90); most patients were female (61%). The most common clinical presentation was epigastric pain (33.9% of cases). The gastric antrum was the most frequently involved site (75.3%). Mean tumor size was 2.82 cm (0.8-17). Preoperative diagnosis was achieved in 22 cases, mostly by endoscopic ultrasound (EUS)-guided biopsy. Wedge resection was performed in 62% of treated patients. Smooth muscle actin was expressed in all cases with available immunohistochemistry. Malignant GT was reported in 11 cases. DISCUSSION: Epigastric pain and bleeding were the most common symptoms at presentation in patients with diagnosis of glomus tumor. EUS-guided fine needle aspiration can be useful for preoperative diagnosis. Endoscopic elastosonography is a promising tool for the differential diagnosis of gastric submucosal lesions, including glomus tumors. The treatment of choice is wedge resection with adequate free margins. A laparoscopic approach is warranted when technically feasible. Since malignant gastric GTs have been described, long-term follow-up is suggested after surgical excision.

Glomangioma in the hand: diagnosis, treatment, and challenges.

INTRODUCTION: In this paper, we have analysed all hand glomangioma cases referred to our clinic in the context of symptoms, time to diagnosis, and the role of surgical resection of the lesion. MATERIAL AND METHODS: We have collected the following data: the presence of risk factors, manifestation, time to diagnosis, the treatment applied, and follow-up of patients. RESULTS: We have collected medical records from six patients, three males and three females. The median age was 45 (IQR: 29.5-65.75). The main symptom in all patients was severe pain and tenderness. The first-choice physician(s) were: general practitioners, general surgeons, and neurologists. The median time to diagnosis was 7 (IQR: 5-10) years. The main complaint of our patients was severe pain - 9 (IQR: 9-10) on the VAS scale, which was significantly alleviated after surgical treatment - 0 (IQR: 0-0; p = 0.043). CONCLUSIONS: Extremely long times to final diagnosis, and excellent outcomes of surgical treatment, highlight the necessity of raising awareness of glomangiomas among clinicians.

[A Case of Primary Liver Cancer and Gastric Glomus Tumor Diagnosed Preoperatively and Treated with Liver Segmentectomy and Local Gastrectomy].

A man in his 70s was concurrently suspected of having a submucosal tumor(SMT)of the stomach and a liver tumor during a medical examination. Abdominal contrast-enhanced CT scan revealed S8 hepatocellular carcinoma(HCC)and an SMT of the stomach, which was strongly enhanced from the early to the later phase. Upper gastrointestinal endoscopy revealed a 20 mm SMT in the antrum of the stomach. Endoscopic ultrasonography showed a hyperechoic tumor in the fourth layer of the gastric wall. T2-weighted MRI showed a 25 mm SMT in the antrum of the stomach with a faint high signal intensity compared with that of the gastric wall. The patient was diagnosed with HCC and gastric glomus tumor, and a liver segmentectomy and a local gastrectomy were performed. Immunohistochemistry of the SMT revealed the expression of α-SMA but no expression of desmin, c-kit, CD34, or S-100. Therefore, a diagnosis of a Glomus tumor of the stomach was made. Gastric Glomus tumors are very rare; therefore, we have reviewed some citations and would like to discuss our case.

Clinico-epidemiological profile and management outcome of subungual digital glomus tumor-Indian experience.

BACKGROUND: Glomus tumors are rare tumors arising from the mesenchymal smooth muscle cells of the glomus body. They are extremely painful tumors but because of their subungual location, remain mostly underdiagnosed. AIM: To characterize the demographic, clinical, onychoscopic, radiological features and management outcome of subungual glomus tumor. Material & methods- 15 patients with a total of 16 subungual glomus tumors were evaluated and their demographic data, history, clinical features, investigations, treatment, and follow-up were analyzed. RESULTS: Glomus tumors had a female preponderance (11/15) with thumb being the commonest site. All patients presented with intractable pain. Nail discoloration was observed in 11/16 (68.8%) lesions and nail plate deformity in 6/16 (37.5%) lesions. Common features on onychosocpy were pink glow and linear vascular structures. Doppler sonography and/or magnetic resonance imaging confirmed the diagnosis of glomus tumor in all the lesions. Surgical excision was done under local anesthesia using a trans-ungual approach and no recurrence was seen. CONCLUSIONS: High index of suspicion, meticulous clinical assessment along with radiological investigations can help in the early diagnosis. Complete surgical excision is the treatment of choice to prevent recurrence.

Risk Factors Associated With Misdiagnosis of Digital Glomus Tumor: A Retrospective Cohort Study.

OBJECTIVE: Glomus tumors are benign with unique triad of symptoms; however, the delayed diagnosis of these tumors is common. We investigated the possible risk factors for the misdiagnosis of digital glomus tumors, with an aim to treat these patients on time. METHODS: We conducted a retrospective cohort study of 104 patients with digital glomus tumors from October 2009 to February 2021. Data pertaining to sex, age, tumor locations, symptoms, imaging modalities, and clinical departments visited by the patients were extracted and analyzed through logistic regression. RESULTS: The duration of delayed diagnosis ranged from 3 months to 40 years (mean, 5.5 ± 6.5 years). The total misdiagnosis and recurrence rate are 34.6% and 3.8%, respectively. On the multivariate logistic regression, the misdiagnosis of digital glomus tumor was significantly associated with the clinical departments visited by the patients ( P < 0.001). The risk of misdiagnosis of nonhand surgery department visit is 179.741-fold higher than that of hand surgery department visit. CONCLUSIONS: The misdiagnosis rate of digital glomus tumor was closely related to the clinical departments visited by the patients. Hand surgeons are the first choice for the treatment of the tumor.

Glomus tumors around or in the knee: a case report and literature review.

BACKGROUND: Glomus tumors commonly affect the extremities, especially subungual. And glomus tumors rarely occur around knee, which are often misdiagnosed. A lack of experience with glomus tumors is likely the cause. CASE PRESENTATION: A 42-year-old female presented with continuous dull pain of right knee for the past 7 years. Severe pain was experienced after walking a few hundred meters or climbing up or down stairs. The patient had a slight limp, and the lateral superior aspect of her right knee was tender to palpation. The range of motion and skin around her right knee were normal. Magnetic resonance imaging revealed a well-defined abnormal lesion confluent with the periosteum on the femoral lateral supracondylar. She was finally diagnosed with glomus tumor according to pathological results. After surgery, the pain disappeared, and the patient was discharged three days postoperatively. At the 18-month follow-up visit, the patient reported sustained pain relief, and regular follow-ups were continued. Additionally, 30 published reports documenting 36 cases of glomus tumors around the knee were reviewed, which showed that 20% of all reported cases of glomus tumor around the knee had a history of trauma. The median age for male with glomus tumor was greater than that of female; however, the median duration of illness between the two groups was equivalent. The mean diameters of glomus tumors ranged from 4 to 65 mm, and locations around the knee included the knee joint cavity, soft tissue (e.g. popliteal fossa, patellar tendon, iliotibial band, and Hoffa's fat pad), distal femur, and proximal tibia. CONCLUSION: Literature review demonstrated that no significant differences were found between male and female with glomus tumor in regard to location (left or right side) and illness duration. It was noting that a history of trauma may be a cause of glomus tumor and approximate 94.4% of glomus tumors was benign. The most effective therapy accepted for glomus tumors is complete surgical excision, and recurrence was rare after complete surgical excision.

Unusual glomus tumor of the bladder: a rare case report and literature review.

BACKGROUND: Glomus tumor (GT), which are neoplasms of the glomus body, usually occur in the extremities, particularly under the nail bed. GT occurring in the bladder is very rare and has been reported as sporadic. In the present study, a rare case of bladder GT is reported and its clinical and histopathological characteristics are summarized by literature review. CASE PRESENTATION: A 57-year-old woman presented with intermittent gross hematuria for 2 years. Urinalysis displayed hematuria. The bladder ultrasound showed an avascular and homogeneous isoechoic polypoid mass with a maximum diameter of 6 mm at the right lateral wall of bladder. The bladder endoscopic examination showed a polypoid lesion, with a smooth surface, located in the right lateral wall. Then, a transurethral resection was performed, its histopathological features indicated a benign GT. CONCLUSIONS: GT arising in the bladder is extremely rare, and only four cases have been identified in studies reported in English. It is difficult to diagnose bladder GTs according to their clinical features. The gold standard method used for their diagnosis is histopathology. However, it should also be considered in the differential diagnosis for bladder mass.

Minimally Invasive Transungual Tumors Enucleation With Nail Preservation for Subungual Glomus Tumors.

BACKGROUND: Glomus tumors are benign neurovascular neoplasms, most commonly located in the subungual region. These subcutaneous nodules are characterized by intense pain and temperature sensitivity. Although surgical excision is the curative treatment, permanent nail deformity and recurrence are not uncommon after conventional surgery. OBJECTIVE: This study evaluated the long-term efficacy of a modified transungual approach with nail preservation for removing subungual glomus tumors. MATERIAL AND METHODS: Thirty-nine patients with clinically diagnosed and histopathologically proven glomus tumors treated at a medical center over a 13-year period (2007-2019) were retrospectively evaluated. RESULTS: The 39 patients included 28 women and 11 men (ratio, 2.5:1), with a mean age of 48.9 years. Thirty-four tumors were located in the fingers and 5 in the toes. All patients returned to normal activity soon after the surgery. At a mean follow-up of 28.8 months, all were pain free or experienced minimal pain and were satisfied with treatment outcomes. One patient (2.6%) experienced recurrence. No nail deformity was observed. CONCLUSION: The transungual approach with nail plate preservation is a novel and effective method for removing subungual glomus tumors with reduced postoperative pain and rapid healing, while preserving or improving the configuration of the nail.

Clinicopathologic features and BRAF mutation status of tracheal glomus tumors - Characterization of 4 cases and the distinction from low-grade neuroendocrine tumors.

BACKGROUND: Glomus tumors are uncommon and mostly benign mesenchymal neoplasms of the perivascular family. To date, only a few cases of glomus tumors occurring in the trachea have been reported. Tracheal glomus tumors simulated low-grade neuroendocrine tumors on clinical and histomorphological examination, so the differential diagnosis between these two entities is very necessary. The latest studies showed that BRAF mutation may be associated with a malignant phenotype of glomus tumors. METHODS: We investigated the clinical, histopathologic, immunohistochemical, and BRAF V600E mutation status of four cases of tracheal glomus tumors. RESULTS: The cases showed a female predilection (male:female, 1:3) with a median age of 35.5. All of the cases had the typical morphological characteristics of glomus tumors, such as uniform round tumor cells with nest-like distribution surrounding thin-walled vessels; two of them met the malignant diagnostic criteria based on the 5th edition of WHO classification, including marked nuclear atypia and any level of mitotic activity. Immunohistochemistry showed diffusely positive for vimentin (4/4), α-SMA (4/4) and collagen IV (4/4), variably reactive for synaptophysin (3/4) and SSTR2 (2/2), and negative for AE1/AE3 (0/4) and chromogranin A (0/4). Three tested cases harbored no BRAF V600E mutation. Three follow-up cases were alive and free of disease with an average follow-up of 89.3 months. CONCLUSIONS: Tracheal glomus tumors are rare mesenchymal tumors that have overlapping morphologic and immunohistochemical features with neuroendocrine neoplasms. Our cases highlight the importance of careful histomorphological examination and comprehensive immunohistochemical study in reaching a correct diagnosis of glomus tumors of the trachea. Other than BRAF mutation, malignant glomus tumors may have a complex mutational profile.

[Cardiac glomus tumor: An unusual localization of pericytic (perivascular) tumor]. / Tumeur glomique intracardiaque : une tumeur péricytaire (périvasculaire) de localisation inhabituelle.

Glomus tumor are rare mesenchymal neoplasm, belonging to the pericytic (perivascular) tumor family, witch recent molecular characterization has allowed highlight recurrent molecular abnormalities. In fact, glomus tumor involves frequent MIR143-NOTCH gene fusion whereas others pericytic tumor (myopericytoma and myofibroma) involve mutations of PDGFRB gene. Glomus tumor are usually developed in superficial localization. However visceral locations have been described. Cardiac location is exceptional with only one case reported in literature. Here, we report the case of cardiac glomus tumor (glomangiomyoma) developed in the left ventricle in a 34 year-old patient, diagnosed after chest pain. The length of tumor was 4cm in greatest dimension. Histologically, the tumor concerned both round glomus cells and smooth muscle cells with prominent branching thin-walled vessels. By immunohistochemistry, these two contingents exhibited diffuse expression of smooth muscle actin and heterogeneous expression of H-caldesmone whereas cytokeratins, melanocytic markers and chomogranine were negative. Next Generation molecular analysis using RNA sequencing highlighted the characteristic MIR143-NOTCH gene fusion witch supports the diagnosis of glomus tumor. In this observation, we recall histological and immunohistochemistry features of glomus tumor and we make a synthesis concerning the molecular data recently described in sporadic glomus tumor.

A nodule on the forearm.

Glomus tumors are benign tumors of the skin. Clinically, these tumors can present as solid, painful subcutaneous nodules, frequently seen on the hand (particularly subungual region). Glomangiomyomas are the least common histological type of glomus tumor. In the literature, there are only a few glomangiomyoma cases of the forearm location. We report a patient with a painful nodule, diagnosed as glomangiomyoma. Surgical excision was performed and no recurrence was observed after 5 years' follow-up.

Primary Hand Leiomyoma: A Systematic Review.

BACKGROUND: Primary leiomyoma is a rare cause of a mass in the hand, with few reported cases to date. To our knowledge, this constitutes the most comprehensive and up-to-date systematic review of the literature of all cases of primary hand leiomyoma. We also provide an additional case recently managed in our practice of confirmed primary vascular leiomyoma of the hand in a 44-year-old woman to add to the current body of literature. METHODS: We performed a comprehensive literature review of all articles published on primary leiomyoma of the hand. The PubMed database was used, with search terms leiomyoma hand, angioleiomyoma hand, and angiomyoma hand. Articles were selected for their accuracy in anatomic localization in the hand and confirmed pathology of leiomyoma. RESULTS: Our initial search query resulted in 216 articles. After applying the inclusion criteria, we identified 50 individual articles with 108 cases of confirmed primary leiomyoma in the hand from January 1, 1954, to July 1, 2018. Common initial clinical impressions recorded for primary hand leiomyoma included ganglion cyst, giant-cell tumor, hemangioma, and glomus tumor. Patients presenting with leiomyoma of the hand frequently describe a painful lesion, which differs from most other benign tumors of the hand at presentation. CONCLUSIONS: Leiomyoma is an important consideration when developing a differential diagnosis for primary benign masses in the hand. We hope that this comprehensive review can provide increased awareness of this tumor type.

[Diagnosis and treatment of glomus tumors of the skull base and neck]. / Diagnostik und Therapie von Glomustumoren der Schädelbasis und des Halses.

Glomus tumors (paragangliomas) are rare, usually benign, neuroendocrine tumors that arise from nonchromaffin cells and can be multifocal or familial. They grow slowly, often infiltratively and rarely form metastases. A distinction is made between carotid, jugular, tympanicum and vagal tumors. Depending on the location, clinical symptoms include neck swelling, hearing loss with pulse-synchronous ear noise or cranial nerve failures (IX-XI). Diagnosis is often delayed because of nonspecific symptoms. Diagnostically, tumor expansion and perfusion can be well visualized by color Doppler sonography. In the T2-weighted MRI, the tumor is hyperintense, after contrast agent administration a strong enhancement occurs due to the strong vascularization. In DSA (digital subtraction angiography), even small glomus tumors can be detected. Therapeutically, operative tumor resection after embolization with, e.g., polyvinyl alcohol particles or liquid embolization can be performed. If the patient is in poor general condition or if the tumor is inoperable, different treatment techniques (intensity-modulated radiotherapy, gamma or cyber-knife) may be considered as a conservative therapeutic alternative.

Rupture of a subungual glomus tumor of the finger.

BACKGROUND: Glomus tumor is a rare benign neoplasm, which most frequently occurs in the subungual regions of digits. Tumor rupture and infection occurred in one patient with a glomus tumor have never been reported. CASE PRESENTATION: We report a 59-year-old female presented to our hospital with a five-year history of progressively sharp pain and severe tenderness in the tip of her right middle finger. The treatment was surgical excision through a lateral incision accompanied with removal of the nail. After the surgery, the patient gained a functional recovery of her previously afflicted finger. CONCLUSIONS: To the best of our knowledge, this is the first case of finger infection caused by a ruptured subungual glomus tumor. Patients and physicians should be aware of the properties of glomus tumor so that early diagnosis and treatment of subungual glomus tumor as well as avoidance of tumor rupture and infection can be achieved.