Tumor glómico causante de dolor de dedo crónico: la prueba de detección de isquemia es un signo clínico fiable para su diagnóstico. Informe de un caso y revisión de la literatura / Glomus tumor causing chronic finger pain: Ischemia test is a reliable clinical sign for the diagnosis. Case report and review of literature

Los tumores glómicos (TG) son neoplasias benignas raras, que se derivan de la estructura neuroarterial denominada cuerpo glómico, un shunt arteriovenoso especializado implicado en la regulación de la temperatura. Representan menos de 2% de los tumores del tejido blando, y entre 1 y 4,5% de los tumores de la mano. Aun cuando sus primeras descripciones aparecieron hace casi 100 años, son comunes la demora y la ausencia diagnósticas, las cuales originan un sufrimiento terrible. La tríada diagnóstica clásica consiste en dolor espontáneo, sensación de presión y sensibilidad, e hipersensibilidad al frío. La imagen de resonancia magnética (IRM) sigue siendo la modalidad de imagen más útil. La supresión del dolor tras inflar un esfigmomanómetro por encima de los niveles de la presión arterial sistólica (prueba de detección de isquemia) es altamente diagnóstica, por lo que sugerimos el uso rutinario de esta prueba simple en los casos de dolor en la extremidad superior de etiología desconocida. La resección quirúrgica es el tratamiento de elección, y es curativa. (AU)

Glomus tumors are a rare benign neoplasm arising from the neuroarterial structure called the glomus body, a specialized arteriovenous shunt involved in temperature regulation. They represent less than 2% of soft tissue tumors and between 1 and 4.5% of hand's tumors. Even though its first descriptions appeared almost 100 years ago, late and missed diagnoses are common, which leads to terrible suffering. The classic diagnostic triad consists of spontaneous pain, pressure sensation and tenderness, and cold hypersensitivity. Magnetic resonance imaging stills the most useful imaging modality. Abolition of pain after inflating a blood pressure cuff above systolic blood pressure levels (ischemia test) is highly diagnostic, so we suggest the routine use of this simple test in cases of upper limb pain of unknown etiology clear. Surgical excision is the treatment of choice and is curative. (AU)

Nail-preserving excision of glomus tumor in the second toe: Case report and literature review.

INTRODUCTION: This case report describes the diagnosis of a glomus tumor in the second toe of a 38-year-old female, followed by surgical treatment utilizing a transungual approach to preserve the nail. This study highlights the diagnostic challenges and surgical strategies to treat such tumors while preserving nail integrity. PATIENT CONCERNS: Pain occurred once a week, but over time, it increased, and just before seeking medical attention, she experienced pain more than 5 times a day. The pain worsened when cold water touched her toe. DIAGNOSIS: We observed a slight hump indicating nail plate deformity, and the patient exhibited severe pinpoint tenderness (positive Love test) in the affected area. Color duplex ultrasound was performed for further investigation, revealing a hypervascular hypoechoic nodule measuring 0.5 cm in size at the nail bed of the right second toe. INTERVENTION: The surgery was performed under digital nerve block anesthesia using a modified transungual nail-preserving approach for the excision of the glomus tumor. OUTCOMES: The pain that was reported prior to the surgery has improved postoperatively, and the recovery has been uneventful without any other complication. CONCLUSION: This paper provides a comprehensive examination of a rare glomus tumor in the second toe, elucidating both diagnostic intricacies and treatment modalities. It emphasizes the dual necessity of achieving total tumor excision while also considering aesthetic outcomes. The insights presented herein are intended to serve as valuable guidance for clinicians confronted with similar clinical scenarios, underlining the delicate interplay between effective tumor management and the preservation of cosmetic integrity.

Outcomes Following Excision of Toe Glomus Tumors.

BACKGROUND: Glomus tumors are uncommon tumors and their occurrence in the foot is even less common. Glomus tumors of the toes are often missed, causing delays in diagnosis and treatment. We report an ambispective observational study of glomus tumors of the toes that were treated at our institution. METHODS: We reviewed the records of all the patients who underwent excision of toe glomus tumors in our department from January 2010 to September 2022. The follow-up data were collected from the outpatient records and by telephonic interview. Single Assessment Numeric Evaluation (SANE) score, Foot and Ankle Outcome Score (FAOS), and the Foot Function Index (FFI) were collected. RESULTS: Out of all the patients treated for glomus tumors, we found that 7 patients had glomus tumors of the toes. Of the 7 patients, 6 were women and 1 was a male. The mean follow-up of our patients was 66.4 months (range, 7-109 months). Of the 7 patients, 1 presented with recurrent glomus tumor 30 months following the primary operation, for which she underwent excision again, after which she was symptom free. Another patient who developed recurrent symptoms on telephonic interview refused any further treatment. Among the 6 patients who were symptom-free at follow-up (including the patient who underwent excision for the recurrent tumor), the median SANE score, and FFI were 99.5 (IQR, 96-100) and 0.5 (IQR, 0-2) respectively. The mean FAOS was 96 (SD, 3.3). CONCLUSION: Surgical excision of the subungual toe glomus tumors can be curative. Recurrence of toe glomus tumors was noted in 2 patients (29%), one of whom refused further surgery. Re-excision in the other patient resulted in complete resolution of symptoms. LEVEL OF EVIDENCE: Level III, ambispective observational study.

A 65-Year-Old Man Presenting to the Emergency Department with Gastric Hemorrhage Caused by a Glomus Tumor.

BACKGROUND Glomus tumor is a benign but rapidly growing mesenchymal tumor that is a rare in the gastrointestinal tract, can be locally invasive due to its rapid growth, and can result in perforation of a viscus. We report a 65-year-old man presenting as an emergency with gastric hemorrhage and gastric glomus tumor. CASE REPORT A 65-year-old man came to our hospital for a life-threatening upper digestive hemorrhage. The preoperative examinations (digestive endoscopy without sampling of biopsy fragments and contrast-enhanced computer tomography) led to the presumptive diagnosis of gastrointestinal stromal tumor. Wedge resection of the gastric wall was performed. The histopathological examinations revealed a proliferation of round-oval cells of medium size with a solid disposition and in nests. This proliferation dissected the muscular tunic and caused ulceration of the gastric mucosa. Immunohistochemical tests confirmed the diagnosis of glomus tumor and excluded other diagnoses (neuroendocrine tumor or gastrointestinal stromal tumor). The postoperative evolution was favorable, and at the time of discharge, the biochemical test values normalized. CONCLUSIONS Pathologists are faced with a challenging task due to the deceptive appearance that can be presented by such a rare tumor. Histopathological and immunohistochemical examinations are essential in achieving a precise diagnosis and assessing the biological potential of the glomus tumor. Even if it is a benign tumor, the clinical picture it causes can still be a major risk to the patient's life. Consequently, ensuring effective case management becomes crucial, as it requires a thorough comprehension of all conditions encompassed in the differential diagnosis.

En Bloc Excision and Bone Grafting for Monostotic Multiple Intraosseous Glomus Tumors of the Distal Phalanx: A Case Report.

CASE: Glomus tumors of the hand are rare tumors that occur predominantly in the subungual region. Though multicentric glomus tumors have been reported in the subungual region involving the nailbed, monostotic multiple intraosseous glomus tumors have not been reported so far. We report a case of a 36 year-old woman who presented with a 5-year history of intermittent thumb pain, aggravated with exposure to cold or pressure. A glomus tumor of the thumb was excised, but symptoms returned 3 months later. She ultimately underwent curettage with bone grafting of a recurrent glomus tumor at the same site, and has been free of symptoms for 1.5 years. CONCLUSION: Intraosseous glomus tumors may present as multiple synchronous lesions. This, to the best of our knowledge, is the first case report of monostotic multiple intraosseous glomus tumors.

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.

Novel ATG7::RAF1 gene fusion in malignant glomus tumor.

Glomus tumors are classified as members of the perivascular myoid family of tumors. Nearly half of these show NOTCH-gene fusions and a smaller subset has BRAF V600E mutations. Here, we report a novel ATG7::RAF1 fusion in malignant glomus tumor occurring in a 40-year-old female which has not been reported in the malignant glomus tumor before. A 40-year-old female presented with a persistent lateral heel pain and an increase in the size of a mass along the lateral ankle for nearly 10 years. Resected specimen showed a well circumscribed lesion composed of spindled and epithelioid cells with moderate nuclear atypia and mitotic figures (7/10 high-power fields) including atypical forms without any necrosis, lymphovascular, or perineural invasion. The tumor was positive for smooth muscle actin, smooth muscle myosin heavy chain, H-caldesmon, collagen type IV, and discovered on gastronintestinal stromal tumors-1 but negative for AE1/3, desmin, S-100, CD34, and CD117. RNA sequencing showed presence of ATG7-RAF1 fusion. This fusion has not been reported in the malignant glomus tumor before. Future studies on larger cohorts are needed to ascertain the biological significance of these tumors with novel gene fusions.

Infiltrative fibrous lesion of the facial nerve mimicking a facial nerve tumor.

PURPOSE: To report three cases of facial nerve lesions that were clinically expected to be facial nerve tumors but showed fibrotic infiltration without any apparent signs of a specific tumor on histopathological findings. We also aimed to investigate the clinical characteristics of these cases. METHODS: Medical records of patients who underwent surgery for facial nerve lesions were reviewed. RESULTS: All three cases initially had House-Brackmann (HB) grade IV-V facial nerve palsy. On radiological imaging, schwannoma or glomus tumor originating from the facial nerve was suspected. All patients underwent complete surgical removal of the neoplasm followed by facial nerve reconstruction using the sural nerve. The lesions were histologically confirmed as infiltrative fibrous lesions without tumor cells. In two cases, facial nerve palsy improved to HB grade III by nine months post-surgery, and there were no signs of recurrence on follow-up MRI. The other case, after 1 year of follow-up, showed persistence of HB grade V facial nerve palsy without any evidence of recurrence. CONCLUSION: Fibrotic lesions of the facial nerve could mimic primary facial nerve tumors. Clinicians should consider this condition even when a facial nerve tumor is suspected.

A rare cause of AA amyloidosis: Glomus tumor and treatment with anakinra-Case report and literature review.

Systemic AA amyloidosis is associated with poorly controlled chronic inflammatory disorders. Chronic infections and inflammatory arthritis are the most common causes; however, they can also rarely occur as a complication of neoplastic disorders. The development of AA amyloidosis secondary to paraganglioma, which is a rare type of tumor, has rarely been reported in the literature. In this case, an 85-year-old female patient with a glomus tumor in the neck, who has been followed up over 50 years, applied with complaints of loss of appetite, nausea, and diarrhea for 5-6 months. While evaluating the patient, who had high levels of acute phase reactants, amyloidosis was diagnosed by salivary gland biopsy. No other cause was found to explain amyloidosis. The patient, who could not tolerate treatment with colchicine and azathioprine, is successfully treated with the interleukin-1 inhibitor anakinra. A rare relationship, systemic AA amyloidosis, which is thought to have developed as a result of long-standing jugular paraganglioma, is presented in this article. In addition, publications showing an association between paragangliomas and amyloidosis were reviewed.

Malignant glomus tumor arising in association with a fumarate hydratase-deficient leiomyoma: An unusual collision tumor.

Collision tumors, defined as "two independent neoplasms that occur in close proximity to one another but maintain distinct boundaries," are quite rare. We report an exceptional collision tumor composed of a genetically confirmed malignant glomus tumor and a fumarate hydratase (FH)-deficient leiomyoma, presenting as a subcutaneous thigh mass in a 38-year-old male who was known to have hereditary leiomyomatosis and renal cell carcinoma syndrome. Microscopic examination identified a biphasic subcutaneous mass comprising sheets and nodules of glomus cells, with nuclear atypia and mitotic activity, and fascicles of mitotically inactive smooth muscle with variably pleomorphic nuclei and intracytoplasmic eosinophilic inclusions, features of FH-deficient leiomyoma. Immunohistochemistry demonstrated loss of FH and robust 2-succinocysteine expression in the smooth muscle, with a normal (FH-retained) expression pattern in the glomus tumor. Next-generation sequencing, performed on the glomus tumor component, identified CARMN::NOTCH2 fusion, characteristic of malignant glomus tumors. Awareness of the distinctive morphologic, immunohistochemical, and molecular genetic features of glomus tumors and FH-deficient leiomyomas is important for correct clinical management of patients with exceptional collision tumors of this type.

A case of cutaneous malignant glomus tumor.

Glomus tumors are well-known but relatively rare vascular neoplasms, with their malignant counterparts still being rarer. There are very few reports of cutaneous malignant glomus tumors, and the current limited evidence suggests that they follow a more indolent course than deep-seated malignant glomus tumors. Herein, we are reporting a case of cutaneous malignant glomus tumor. A 94-year-old male presented with a right-sided ulcerated scalp lesion, which, on biopsy, showed a diffusely infiltrative epithelioid malignancy with considerable pleomorphism and a notable perivascular growth pattern. The tumor cells were positive for smooth muscle actin (SMA) and h-caldesmon, and negative for cytokeratin MNF116, CK5, p40, S100, SOX10, HMB45, Melan-A, ERG, CD31, CD45, CD3, CD20, ALK, desmin, CD68, CD34, and HHV8. A diagnosis of cutaneous malignant glomus tumor was made, and the patient underwent a wider excision. Cutaneous malignant glomus tumors are extremely rare and should be considered when examining unusual cutaneous mesenchymal tumors.

A malignant glomus tumor in the nasal cavity responding to radiation therapy.

Malignant glomus tumors of the head and neck are extremely rare, and to our knowledge, a response to high-dose radiation has not been described previously. We report one case in an 80-year-old woman with right nasal cavity mass. Histological examination revealed sheets of atypical round glomus cells. The presence of increased mitotic activity (25 per 10 high-power fields), cellular atypism, and tumor necrosis suggested malignancy. The smooth muscle actin, vimentin, and h-caldesmon immunohistochemistry stains the tumor cells. Two cycles of doxorubicin and cyclophosphamide chemotherapy were done and the tumor size was slightly increased. Salvage radiation therapy (RT) was delivered to the primary mass over 4 weeks (50 Gy in 20 fractions) and leading to nearly complete regression of tumor. Additional investigations are warranted so that we may determine the usefulness of RT in the management of this rare tumor.

Metastatic Malignant Glomus Jugulare Tumor: A Rare Case Report with Clinical Manifestations and Treatment Approach.

BACKGROUND Paragangliomas are neuroendocrine neoplasms derived from paraganglia of the sympathetic and parasympathetic nervous systems. Parasympathetic ganglia-derived tumors, also called non-chromaffin, are located almost exclusively in the neck and skull base and are usually non-secretory and inactive. A case of malignant glomus jugulare with a metastatic cervical lymph node is described here. CASE REPORT A 24-year-old woman was referred to an otolaryngology clinic for concern of voice change for 1 month, which was associated with right progressive hearing loss, pulsating tinnitus, and right facial weakness. A clinical examination revealed a reddish mass in the right ear behind an intact tympanic membrane with right facial weakness of House-Brackmann grade VI. A bedside flexible nasopharyngoscopy revealed an immobile right vocal fold. A computed tomography scan of the brain revealed a destructive lesion within the right jugular foramen. The patient underwent embolization followed by glomus tumor resection via infra-temporal fossa with Fisch type A approach. Pathology revealed that the tumor was an infiltrative epithelioid tumor with a spindle and nesting pattern separated by fibrovascular stroma. The submitted lateral neck lymph node revealed a metastatic tumor. CONCLUSIONS Glomus jugulare tumors are uncommon paragangliomas, and malignant behavior with metastasis is extremely rare. Metastatic tumors are often associated with facial and vagal nerves palsy. There are no histological features that distinguish malignant glomus jugulare tumors. Malignant neoplasms are characterized by the presence of metastases. Tumors of the glomus jugulare that are malignant are treated with surgery, radiotherapy, or both. However, our search of the literature revealed no clear guidelines, given the scarcity of cases. Moreover, the presence of metastasis increases the risk of death.

[Glomuvenous malformation: a clinicopathological analysis of 31 cases].

Objective: To investigate the clinicopathological features of glomuvenous malformation (GVM). Methods: Thirty-one cases of GVM diagnosed at the Henan Provincial People's Hospital from January 2011 to December 2021 were collected. Their clinical and pathological features were analyzed. The expression of relevant markers was examined using immunohistochemistry. The patients were also followed up. Results: There were 16 males and 15 females in this study, with an average age of 11 years (range, 1-52 years). The locations of the disease included 13 cases in the limbs (8 cases in the upper limbs, 5 cases in the lower limbs), 9 cases in the trunks, and 9 cases in the foot (toes or subungual area). Twenty-seven of the cases were solitary and 4 were multifocal. The lesions were characterized by blue-purple papules or plaques on the skin surface, which grew slowly. The lumps became larger and appeared to be conspicuous. Microscopically, GVM mainly involved the dermis and subcutaneous tissue, with an overall ill-defined border. There were scattered or clustered irregular dilated vein-like lumens, with thin walls and various sizes. A single or multiple layers of relatively uniform cubic/glomus cells were present at the abnormal wall, with scattered small nests of the glomus cells. The endothelial cells in the wall of abnormal lumen were flat or absent. Immunohistochemistry showed that glomus cells strongly expressed SMA, h-caldesmon, and collagen IV. Malformed vascular endothelial cells expressed CD31, CD34 and ERG. No postoperative recurrence was found in the 12 cases. Conclusions: GVM is an uncommon type of simple venous malformation in the superficial soft tissue and different from the classical glomus tumor. Morphologically, one or more layers of glomus cells grow around the dilated venous malformation-like lumen, which can be combined with common venous malformations.

Glomus tumour: an institutional experience of 31 cases.

BACKGROUND: Glomus tumour is an uncommon soft tissue tumour which commonly occurs in the distal extremities, particularly the subungual region of the finger. Due to its rarity, there is a paucity of literature concerning glomus tumour. Therefore, this paper aims to report a case series based on our institution's experience. METHODS: A retrospective cross sectional study was performed in a single tertiary institution in Singapore. All patients diagnosed with glomus tumour confirmed on histology from January 2019 to October 2022 were included in the study. Patient demographics and clinical information (presenting signs and symptoms, tumour parameters and presence of recurrence) were retrieved from existing medical records. RESULTS: A total of 31 cases of glomus tumour were diagnosed from January 2019 to October 2022, and the relevant demographics and clinical presentation were reported. Majority of glomus tumours occurred in the finger (61.3%). Pain was present in almost all the cases (96.8%), while a lump was visible in less than half (48.4%). An average of 44.0 months elapsed before patients were properly diagnosed and treated. There were no cases of recurrence despite involved margins in three cases. CONCLUSION: Glomus tumour can be easily missed if clinicians do not have an index of suspicion for it, resulting in delayed treatment. Once diagnosed, glomus tumour can be treated with complete excision with good outcomes.

Glomus Tumor of the Stomach Presenting With Upper Gastrointestinal Bleeding: A Case Report.

Gastric glomus tumor is a rare mesenchymal tumor of the gastrointestinal tract, accounting for approximately 1% of all gastrointestinal soft tissue tumors. We describe a unique case of a 27-year-old female patient who presented with recurrent episodes of overt gastrointestinal bleeding requiring multiple blood transfusions. The patient was diagnosed with a gastric ulcer detected on esophagogastroduodenoscopy (EGD), which was grossly suggestive of an ulcerated gastrointestinal stromal tumor (GIST). Preoperative diagnosis was difficult, requiring laparoscopic robotic-assisted local wedge resection of the gastric mass. Pathological diagnosis and immunohistochemical (IHC) studies were consistent with a glomus tumor. We emphasize that the gastric glomus tumor might present with life-threatening recurrent gastrointestinal hemorrhage. In addition, it might mimic GIST and require surgical resection. Pathological diagnosis and IHC studies are needed to confirm the diagnosis.

Carotid body paraganglioma: a case report.

A highly vascular glomus tumor that develops from the paraganglion cells of the carotid body is called a carotid body tumor (CBT), also known as a chemodectoma or carotid body paraganglioma (CBP). It is situated near the carotid bifurcation, where the external and internal carotid arteries splay out characteristically. We present a case of a 30-year-old woman who had a slightly tender, slightly pulsatile, and slightly ballotable swelling over the lateral aspect of the neck on the right side. The surgical resection of the tumor was done based on the diagnosis made on clinical-radiological investigations as a carotid body tumor further confirmed by a histopathological study. We also provide a summary of the research on carotid body tumors clinical and imaging manifestations, assessment, and therapy.