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1.
J Cardiothorac Surg ; 19(1): 328, 2024 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-38858712

RESUMEN

We report a unique case of a 66-year-old man who was incidentally identified to have a mass in the thymus region by computerized tomography scan. CT revealed a well-defined 1.6 × 1 × 0.9 cm thymus mass with moderate uniform enhancement. Thoracoscopic thymectomy was performed, and the pathological diagnosis was primary glomus tumor of the thymus. There were no atypia or malignant histological features, and no primary tumors in other sites. To our knowledge, this is the first case of primary thymic glomus tumor reported in the literature.


Asunto(s)
Tumor Glómico , Neoplasias del Timo , Tomografía Computarizada por Rayos X , Humanos , Masculino , Anciano , Tumor Glómico/cirugía , Tumor Glómico/patología , Tumor Glómico/diagnóstico , Tumor Glómico/diagnóstico por imagen , Neoplasias del Timo/cirugía , Neoplasias del Timo/patología , Neoplasias del Timo/diagnóstico , Neoplasias del Timo/diagnóstico por imagen , Timectomía , Timo/patología , Toracoscopía
2.
J Cutan Pathol ; 51(8): 594-597, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38698729

RESUMEN

A neurofibroma with focal glomus-like body differentiation is an unusual phenomenon recently encountered in an excision specimen from the right lateral distal forearm of a 26-year-old man. Glomus cells are modified smooth muscle cells normally present in glomus-like bodies but can also be found in glomus tumors (GT) or lesions considered in the spectrum of GT, including myopericytoma, myofibroma, and angiolipoma. Neurofibromas are peripheral nerve sheath tumors derived from the neural crest cells. While both GT and its variants and neurofibroma are thought to be derived from different cell types, there is growing evidence that glomus cells have a neural crest origin. This is based on multiple theories, with some overlapping pathways, including neural crest cell differentiation, Schwann cell reprogramming, VEGF expression, and NF1 gene biallelic inactivation. This report adds to the growing evidence of possible neural crest origin for glomus cells and would help explain finding glomus-like bodies scattered through a neurofibroma.


Asunto(s)
Tumor Glómico , Neurofibroma , Humanos , Masculino , Adulto , Tumor Glómico/patología , Tumor Glómico/metabolismo , Tumor Glómico/genética , Neurofibroma/patología , Neurofibroma/metabolismo , Cresta Neural/patología , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/metabolismo , Células de Schwann/patología , Células de Schwann/metabolismo , Antebrazo/patología
3.
J Hand Surg Asian Pac Vol ; 29(3): 240-247, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38726497

RESUMEN

Background: Glomus tumour is a painful small tumour of the glomus body commonly located under the nail bed. The aim of this study is to evaluate the correlation of clinical diagnosis with MRI findings, determine the prevalence of the tumour at different subungual locations and determine the differences in outcomes (if any) between a longitudinal and a transverse nail bed incision for excision of the tumour. Methods: This retrospective study of 56 subungual glomus tumour was conducted from May 2010 to December 2021. Data with regard to gender, age at presentation, digit involved, presenting symptoms, duration of symptoms, clinical signs, need for MRI, anatomical location, surgical approach (longitudinal versus transverse), histopathology result, period of follow-up and complications were recorded. Results: All 56 (100%) patients presented with classic triad of symptoms. The average duration of symptoms was 52.9 months (range: 3-204 months). Eleven (20%) tumours were in the sterile matrix, 38 (68%) at the junction of sterile and germinal matrix and 7 (12%) in the germinal matrix. The tumours were excised through the longitudinal incision in 31 (55.3%) patients and transverse incision in 25 (44.7%). One (1.8%) tumour was intraosseous that was diagnosed intraoperatively and excised successfully. Average follow-up was 35.4 months (range: 6-120 months). There was no difference in outcomes (pain or nail deformity) between the two incisions. One patient (1.8%) has persistent pain that was due to a missed satellite lesion in the same digit. This was excised later with resolution of symptoms. There were no recurrences and all patients were cured after excision of tumour. Conclusions: Diagnosis of glomus tumour is usually clinical, and most are located at junction of sterile and germinal matrix. Tumour can be excised either by longitudinal or transverse nail bed incisions without any change of treatment outcome. Level of Evidence: Level IV (Therapeutic).


Asunto(s)
Tumor Glómico , Imagen por Resonancia Magnética , Enfermedades de la Uña , Humanos , Tumor Glómico/cirugía , Tumor Glómico/patología , Tumor Glómico/diagnóstico por imagen , Tumor Glómico/diagnóstico , Masculino , Femenino , Enfermedades de la Uña/cirugía , Enfermedades de la Uña/patología , Enfermedades de la Uña/diagnóstico por imagen , Enfermedades de la Uña/diagnóstico , Adulto , Estudios Retrospectivos , Persona de Mediana Edad , Neoplasias Cutáneas/cirugía , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico , Adulto Joven , Anciano , Adolescente , Resultado del Tratamiento
5.
Br J Dermatol ; 191(1): 107-116, 2024 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-38489583

RESUMEN

BACKGROUND: Inherited hyperpigmented skin disorders comprise a group of entities with considerable clinical and genetic heterogenicity. The genetic basis of a majority of these disorders remains to be elucidated. OBJECTIVES: This study aimed to identify the underlying gene for an unclarified disorder of autosomal-dominant generalized skin hyperpigmentation with or without glomuvenous malformation. METHODS: Whole-exome sequencing was performed in five unrelated families with autosomal-dominant generalized skin hyperpigmentation. Variants were confirmed using Sanger sequencing and a minigene assay was employed to evaluate the splicing alteration. Immunofluorescence and transmission electron microscopy (TEM) were used to determine the quantity of melanocytes and melanosomes in hyperpigmented skin lesions. GLMN knockdown by small interfering RNA assays was performed in human MNT-1 cells to examine melanin concentration and the underlying molecular mechanism. RESULTS: We identified five variants in GLMN in five unrelated families, including c.995_996insAACA(p.Ser333Thrfs*11), c.632 + 4delA, c.1470_1473dup(p.Thr492fs*12), c.1319G > A(p.Trp440*) and c.1613_1614insTA(Thr540*). The minigene assay confirmed that the c.632 + 4delA mutant resulted in abolishment of the canonical donor splice site. Although the number of melanocytes remained unchanged in skin lesions, as demonstrated by immunofluorescent staining of tyrosinase and premelanosome protein, TEM revealed an increased number of melanosomes in the skin lesion of a patient. The GLMN knockdown MNT-1 cells demonstrated a higher melanin concentration, a higher proportion of stage III and IV melanosomes, upregulation of microphthalmia-associated transcription factor and tyrosinase, and downregulation of phosphorylated p70S6 K vs. mock-transfected cells. CONCLUSIONS: We found that loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation. Our study implicates a potential role of glomulin in human skin melanogenesis, in addition to vascular morphogenesis.


A group of skin conditions known as 'inherited hyperpigmented skin disorders' includes some diseases with different clinical and genetic traits. The genetic basis of the majority of these diseases is not understood. To identify the gene responsible for a disease that causes darker patches of skin (hyperpigmentation) with or without the abnormal growth of blood vessels and the presence of cells named glomus cells (a glomuvenous malformation), we used genetic techniques called whole-exome sequencing and Sanger sequencing in five unrelated families with this disease. We also used a technique called a 'minigene assay' to evaluate genetic alterations in a gene called GLMN, which encodes a protein called glomulin. Immunofluorescence and transmission electron microscopy (TEM) were used to determine the number of pigment-producing cells (called melanocytes) and melanosomes (where the pigment melanin is synthesized, stored and transported) in hyperpigmented skin lesions. We identified five different variants of the GLMN gene in five unrelated families. Although the number of melanocytes remained unchanged in skin lesions, TEM revealed an increased number of melanosomes. By 'switching off' the GLMN gene, we found that skin cells produced more pigment, as well as the proteins MITF and tyrosinase; they also showed a decrease in the phosphorylated protein p-p70S6 K. Overall, we found that loss-of-function mutations in GLMN caused skin hyperpigmentation with or without abnormal blood vessels. The results suggest there could be a potential role of the protein glomulin in human skin colour and blood vessel changes.


Asunto(s)
Secuenciación del Exoma , Hiperpigmentación , Melanocitos , Linaje , Humanos , Hiperpigmentación/genética , Hiperpigmentación/patología , Femenino , Masculino , Melanocitos/metabolismo , Adulto , Mutación con Pérdida de Función , Tumor Glómico/genética , Tumor Glómico/patología , Melanosomas/genética , Niño , Melaninas/metabolismo , Adolescente , Piel/patología , Piel/irrigación sanguínea , Persona de Mediana Edad , Paraganglioma Extraadrenal , Proteínas Adaptadoras Transductoras de Señales
6.
Foot Ankle Int ; 45(3): 243-251, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38339796

RESUMEN

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.


Asunto(s)
Tumor Glómico , Enfermedades de la Uña , Neoplasias Cutáneas , Humanos , Masculino , Femenino , Tumor Glómico/cirugía , Tumor Glómico/diagnóstico , Tumor Glómico/patología , Enfermedades de la Uña/cirugía , Enfermedades de la Uña/diagnóstico , Enfermedades de la Uña/patología , Dedos del Pie/cirugía , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Diagnóstico Diferencial
7.
Cancer Biother Radiopharm ; 39(4): 318-321, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38324046

RESUMEN

Background: Malignant glomus tumors (MGTs) are rare malignancies, which grow rapidly and are aggressive. Surgical resection has been regarded as the standard management, but treatment options for those unresectable tumors are limited, resulting in a high recurrence rate and poor prognosis. Case Description: An 85-year-old man presented with gross hematuria and was diagnosed with MGTs of bladder. The patient achieved long-term local control after multimodal therapy comprising radiotherapy, iodine-125 seeds brachytherapy, transcatheter arterial chemoembolization, and antiangiogenic targeted therapy. Conclusion: MGTs occurring in the bladder are clinically rare and refractory. The case presented here highlights the importance of multidisciplinary diagnosis and treatment, providing evidence that radiotherapy and antiangiogenic therapy may play an important role in unresectable bladder MGT.


Asunto(s)
Tumor Glómico , Neoplasias de la Vejiga Urinaria , Humanos , Masculino , Neoplasias de la Vejiga Urinaria/patología , Neoplasias de la Vejiga Urinaria/radioterapia , Neoplasias de la Vejiga Urinaria/terapia , Neoplasias de la Vejiga Urinaria/tratamiento farmacológico , Anciano de 80 o más Años , Tumor Glómico/patología , Terapia Combinada/métodos
8.
Genes Chromosomes Cancer ; 63(1): e23202, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37724934

RESUMEN

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.


Asunto(s)
Tumor Glómico , Sarcoma , Neoplasias de los Tejidos Blandos , Femenino , Humanos , Adulto , Tumor Glómico/genética , Tumor Glómico/patología , Proteínas S100/genética , Fusión Génica , Biomarcadores de Tumor/genética
9.
An Bras Dermatol ; 99(2): 238-243, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38001018

RESUMEN

BACKGROUND: Glomus Tumor (GT) are benign neoplasms that originate from mesenchymal cells. It presents as tenderness and cold allodynia in the digits, especially in the subungual region. There are a few studies that investigated the mechanism of pain. OBJECTIVES: To analyze the clinical-pathologic characteristics of GT and to identify the expression of IL-1ß, IL-6, and CGRP in it, further, to explore the possible mechanism of pain. METHODS: The clinical and pathological data of 60 GT patients were retrospectively analyzed. Tissue microarrays and immunohistochemistry were used to measure the expression of IL-1ß, IL-6 and CGRP. RESULTS: GT is more common in females and the ratio of male to was near to 1:2, mostly in middle-aged people. It often occurs in fingertips, especially the thumbs. Patients often present with spontaneous pain, tenderness, and cold hypersensitivity. Both the two pain mediators IL-1ß and IL-6 were highly expressed in GT cells of patients with and without cold hypersensitivity. While CGRP was not expressed in GT. STUDY LIMITATIONS: Low sample size and further research is needed to explore the specific mechanism. CONCLUSIONS: IL-1ß and IL-6 were highly expressed in GT cells, suggesting that IL-1ß and IL-6 have certain nociceptive roles in GT. In the 4 patients with cold intolerance, the intensity of IL-1ß and IL-6 staining was also strong, suggesting that they may not play a role in the cold hypersensitivity. However, since there are only 4 patients with cold intolerance, it's necessary to conduct further in-depth research using a larger sample size. The specific role of CGRP in GT has not been found yet.


Asunto(s)
Péptido Relacionado con Gen de Calcitonina , Síndromes Periódicos Asociados a Criopirina , Tumor Glómico , Persona de Mediana Edad , Femenino , Humanos , Masculino , Péptido Relacionado con Gen de Calcitonina/metabolismo , Tumor Glómico/patología , Estudios Retrospectivos , Interleucina-6 , Interleucina-1beta , Dolor
10.
Ophthalmic Plast Reconstr Surg ; 40(1): e11-e14, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37695168

RESUMEN

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.


Asunto(s)
Exoftalmia , Tumor Glómico , Neoplasias Orbitales , Femenino , Humanos , Adulto , Proteínas Proto-Oncogénicas B-raf/genética , Tumor Glómico/diagnóstico , Tumor Glómico/genética , Tumor Glómico/patología , Neoplasias Orbitales/diagnóstico , Neoplasias Orbitales/genética , Neoplasias Orbitales/patología , Órbita/patología , Exoftalmia/diagnóstico
11.
Laryngoscope ; 134(4): 1894-1896, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37602748

RESUMEN

Middle ear tumors are diverse, but relatively uncommon. The most frequent tumor in the middle ear is glomus tumor, followed by others such as schwannoma and cholesteatoma. We experienced a case of Mucosa-associated lymphoid tissue hyperplasia as a middle ear tumor. The mass behind tympanic membrane appeared a hypervascular tumor, mimicking a glomus tumor, but the form of multiple separate masses in middle ear and mastoid cavity was the distinguishing feature that set it apart from a glomus tumor. Additionally, another characteristic was its tendency to easily shrink under pressure. This characteristic should be considered when encounter a hypervascular looking middle ear mass. Laryngoscope, 134:1894-1896, 2024.


Asunto(s)
Neoplasias del Oído , Tumor Glómico , Glomo Timpánico , Humanos , Glomo Timpánico/patología , Tumor Glómico/patología , Oído Medio/patología , Neoplasias del Oído/diagnóstico , Neoplasias del Oído/patología , Errores Diagnósticos , Membrana Mucosa/patología , Tejido Linfoide
12.
J Cutan Pathol ; 51(1): 50-52, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37661598

RESUMEN

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.


Asunto(s)
Tumor Glómico , Sarcoma , Neoplasias Cutáneas , Masculino , Humanos , Anciano de 80 o más Años , Tumor Glómico/patología , Neoplasias Cutáneas/patología , Anticuerpos Monoclonales , Antígenos CD34
14.
CuidArte, Enferm ; 17(2): 306-309, jul.-dez. 2023. ilus
Artículo en Portugués | BDENF - Enfermería | ID: biblio-1553614

RESUMEN

Introdução: Tumor glômico é uma neoplasia mesenquimal rara que compreende menos de 2% dos tumores de partes moles. Trata-se de um tumor com comportamento clínico benigno, de maior incidência no sexo feminino, entre a segunda e quarta década de vida. Objetivo: Apresentar um caso clínico de tumor glômico. Material e Método: Estudo tipo relato de caso. Relato: Homem de 35 anos de idade com nódulo em antebraço direito há 5 anos. Tratava-se de um nódulo, não ulcerado, eritemato-acastanhado, medindo cerca de 3 milímetros de diâmetro, doloroso a palpação e sensível ao contato com líquidos em baixas temperaturas. Após biópsia incisional da lesão, o exame foi compatível com o aspecto histopatológico de Tumor Glômico, com a presença de vasos sanguíneos dilatados e circundados por pequenas células glômicas com núcleos ovalados, citoplasma eosinofílico e bordas regulares, o que permitiu o correto diagnóstico e o planejamento terapêutico. Até a conclusão do trabalho, o paciente não havia realizado a remoção cirúrgica do tumor, porém não apresentou limitações ou queixas importantes. Conclusão: O estudo do caso do tumor glômico permitirá maior elucidação de novos casos, tendo em vista a raridade do tumor, o quadro clínico pouco específico e escassez de literatura disponível


Introduction: Glomus tumor is a rare mesenchymal neoplasm that comprises less than 2% of soft tissue tumors. It is a tumor with a benign clinical behavior, with a higher incidence in females, between the second and fourth decade of life. Objective: To present a clinical case of glomus tumor. Material and Method: Case report study. Report: 35-year-old man with a nodule on his right forearm for 5 years. It was a non-ulcerated, erythematous-brown nodule, measuring approximately 3 millimeters in diameter, painful on palpation and sensitive to contact with liquids at low temperatures. After incisional biopsy of the lesion, the examination was compatible with the histopathological appearance of Glomus Tumor, with the presence of dilated blood vessels surrounded by small glomus cells with oval nuclei, eosinophilic cytoplasm and regular borders, which allowed the correct diagnosis and planning therapeutic. Until the conclusion of the work, the patient had not undergone surgical removal of the tumor, but did not present any limitations or major complaints. Conclusion: The study of the glomus tumor case will allow greater elucidation of new cases, given the rarity of the tumor, the non-specific clinical picture and the scarcity of available literature


Introducción: El tumor glómico es una neoplasia mesenquimatosa rara que comprende menos del 2% de los tumores de tejidos blandos. Es un tumor de comportamiento clínico benigno, con mayor incidencia en el sexo femenino, entre la segunda y cuarta década de la vida. Objetivo: Presentar un caso clínico de tumor glómico. Material y Método: Estudio de caso clínico. Informe: Hombre de 35 años con nódulo en antebrazo derecho desde hace 5 años. Se trata de un nódulo de color marrón eritematoso, no ulcerado, de aproximadamente 3 milímetros de diámetro, doloroso a la palpación y sensible al contacto con líquidos a bajas temperaturas. Luego de la biopsia incisional de la lesión, el examen fue compatible con el aspecto histopatológico de Tumor Glómico, con presencia de vasos sanguíneos dilatados rodeados de pequeñas células glómicas con núcleos ovalados, citoplasma eosinofílico y bordes regulares, lo que permitió el correcto diagnóstico y planificación terapéutica. Hasta la conclusión del trabajo, el paciente no había sido sometido a extirpación quirúrgica del tumor, pero no presentaba limitaciones ni quejas importantes. Conclusión: El estudio del caso de tumor glómico permitirá un mayor esclarecimiento de nuevos casos, dada la rareza del tumor, el cuadro clínico inespecífico y la escasez de literatura disponible


Asunto(s)
Humanos , Masculino , Adulto , Tumor Glómico/diagnóstico , Antebrazo , Biopsia , Tumor Glómico/patología
15.
J Cancer Res Ther ; 19(5): 1436-1438, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37787324

RESUMEN

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.


Asunto(s)
Tumor Glómico , Sarcoma , Femenino , Humanos , Anciano de 80 o más Años , Tumor Glómico/diagnóstico , Tumor Glómico/radioterapia , Tumor Glómico/patología , Cavidad Nasal/patología , Inmunohistoquímica , Cuello/patología
16.
J Orthop Surg Res ; 18(1): 741, 2023 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-37777807

RESUMEN

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.


Asunto(s)
Tumor Glómico , Enfermedades de la Uña , Humanos , Tumor Glómico/diagnóstico , Tumor Glómico/cirugía , Tumor Glómico/patología , Enfermedades de la Uña/diagnóstico , Enfermedades de la Uña/cirugía , Enfermedades de la Uña/patología , Estudios Retrospectivos , Estudios Transversales , Dedos/cirugía
17.
Neurol Neurochir Pol ; 57(4): 387-391, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37341191

RESUMEN

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.


Asunto(s)
Tumor Glómico , Neoplasias Cutáneas , Masculino , Femenino , Humanos , Persona de Mediana Edad , Tumor Glómico/diagnóstico , Tumor Glómico/cirugía , Tumor Glómico/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Mano/cirugía , Diagnóstico Diferencial
18.
Rev. otorrinolaringol. cir. cabeza cuello ; 83(2): 171-175, jun. 2023. ilus
Artículo en Español | LILACS | ID: biblio-1515476

RESUMEN

Presentamos el caso clínico de una mujer de 58 años que consulta por episodios de epis-taxis autolimitadas por fosa nasal derecha asociados a hipersensibilidad al manipular dicha fosa nasal. A la exploración se evidenció en el septum nasal una lesión mucosa nodular, de consistencia dura y aspecto violáceo. Se llevó a cabo exéresis de la misma por vía endonasal, con resultado histopatológico de tumor glómico (TG) del septum nasal. El TG es una neoplasia benigna perivascular, derivada de las células musculares lisas presentes en el cuerpo glómico; estructura con función termorreguladora, formada por un shunt entre arteriolas y vénulas, sin presencia de red capilar. Los cuerpos glómicos están presentes, mayoritariamente, en extremidades (lecho ungueal). Los tumores glómicos son, verdaderamente, excepcionales en el área ORL, existiendo sólo una treintena de casos publicados hasta la fecha a nivel nasosinusal. La mayoría de casos se presentan entre la 5ᵃ y 6ᵃ década de la vida y más, frecuentemente, en mujeres. Plantea diagnóstico diferencial, fundamentalmente, con dos entidades: el paraganglioma (con el que no debe ser confundido desde el punto de vista terminológico ni histológico), y con el tumor fibroso solitario (antiguo hemangiopericitoma). El comportamiento es benigno y el tratamiento es la cirugía


We present the clinical case of a 58-year-old woman who consulted for episodes of self-limited epistaxis in the right nostril associated with hypersensitivity to manipulation of this nostril. Examination revealed a nodular mucosal lesion in the nasal septum, with a hard consistency and purplish appearance. The lesion was excised endonasally, with histopatho-logical result of a glomus tumor (GT) of the nasal septum. The GT is a benign perivascular neoplasm, derived from smooth muscle cells present in the glomus body; structure with thermoregulatory function, formed by a shunt between arterioles and venules, without the presence of capillary network. Glomus bodies are mostly present in the extremities (nail bed). Glomus tumors are truly exceptional in the ENT area, with only about thirty cases published to date at the nasosinusal level. Most cases occur between the 5th and 6th decade of life and more frequently in women. It raises differential diagnosis fundamentally with two entities: paraganglioma (with which it should not be confused from the terminological or histological point of view) and with solitary fibrous tumor (former hemangiopericytoma). The behavior is benign and the treatment is surgery.


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Neoplasias Nasales/diagnóstico , Tumor Glómico/diagnóstico , Tabique Nasal/patología , Neoplasias Nasales/patología , Tumor Glómico/patología
19.
Rev. esp. cir. oral maxilofac ; 45(2): 88-93, abr.-jun. 2023. ilus
Artículo en Español | IBECS | ID: ibc-224294

RESUMEN

El tumor glómico es una neoplasia mesenquimal derivada de la célula muscular lisa modificada del aparato glómico. Solo se han descrito 39 casos en la cavidad oral. Una mujer de 32 años presentó dolor intenso e hipoestesia en el área del nervio mandibular. El examen físico oral reveló un abultamiento suave sensible a la palpación. La ortopantomografía mostró una imagen radiolúcida y bien definida en la rama mandibular que sugiere un trastorno óseo. Sin embargo, el TC y el angio-TC mostraron una lesión hipervascular en el espacio masticatorio derecho. Se optó por un abordaje quirúrgico intraoral de la lesión. El análisis histopatológico mostró una positividad difusa y fuerte para la vimentina. La actina del músculo liso, la actina específica del músculo y la cadena pesada de miosina del músculo liso también fueron positivas, pero la inmunorreactividad para los marcadores varió en extensión e intensidad entre las diferentes áreas tumorales. Calponina mostró inmunotinción focal y débil. El índice de proliferación (Ki67-MIB1) fue inferior al 1 %.Basado en estos hallazgos morfológicos e inmunohistoquímicos, el tumor se diagnosticó como un tumor glómico (tipo sólido). Esta primera descripción de un tumor glómico en el espacio masticatorio nos hace incluirlo en el diagnóstico diferencial de las neoplasias en esta área. (AU)


Glomus tumour is a mesenchymal neoplasm from modified smooth muscle cell of the glomus apparatus. Only 39 cases have been reported in the oral cavity. A 32-year-old female presented with intense pain and hypoaestesia in the mandibular nerve area. Oral physical examination revealed a soft bulging tender to palpation. Orthopantomography showed a radiolucent, well-defined image in the mandibular ramus suggesting an osseous disorder. However, CT and angio-CT showed a hypervascular lesion in the right masticatory space. An intraoral surgical approach to the lesion was chosen. Histopathological analysis showed diffuse and strong positivity for vimentin. Smooth muscle actin, muscle specific actin, and smooth muscle myosin heavy-chain were also positive, but immunoreactivity for markers varied in extension and intensity between different tumour areas. Calponin showed focal and weak immunostaning. Proliferation index (Ki67-MIB1) was less than 1 %.Based on these morphological and immunohistochemical findings, the tumour was diagnosed as a glomus tumour (solid type). This first description of a glomus tumour in the masticatory space makes us include it in the differential diagnosis of neoplasms in this area. (AU)


Asunto(s)
Humanos , Femenino , Adulto , Tumor Glómico/diagnóstico , Tumor Glómico/patología , Tumor Glómico/cirugía , Neoplasias de Cabeza y Cuello , Traumatismos del Nervio Trigémino
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