RESUMEN
To explore the advantages and disadvantages of 3D Slicer reconstruction and 3D printing localization combined with transcranial neuroendoscope in the surgical treatment of deep cerebral micro cavernous hemangiomas. Method The clinical data of patients with deep cerebral micro cavernous hemangiomas treated by our hospital from June 2022 to February 2023 using 3D Slicer reconstruction and 3D printing localization technology combined with transcranial endoscopic surgery were retrospectively analyzed. A total of 5 cases with complete data were collected, including 2 males and 3 females, aged 9-59 years. All 5 patients had deep supratentorial cavernous hemangiomas with a diameter of less than 1.5 cm, and had clinical symptoms such as headache or epilepsy, and had been diagnosed by CT or MRI. Repeated bleeding from small cavernous hemangiomas in the deep brain can lead to clinical symptoms such as recurrent headache and epilepsy, and is required surgical treatment. However, cavernous hemangiomas often have smaller lesions and are difficult to locate in the deep part. Without neuronavigation, surgery can become extremely difficult. Our team's newly developed 3D Slicer reconstruction and 3D printing localization technology which could provide new options for surgical treatment of small cavernous hemangiomas or other small lesions in the deep brain, but its accuracy and safety still need to be verified by further clinical research.
Asunto(s)
Neuroendoscopía , Impresión Tridimensional , Humanos , Femenino , Masculino , Adulto , Adolescente , Niño , Persona de Mediana Edad , Neuroendoscopía/métodos , Estudios Retrospectivos , Adulto Joven , Hemangioma Cavernoso del Sistema Nervioso Central/cirugía , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Imagenología Tridimensional/métodos , Neoplasias Encefálicas/cirugía , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/patología , Hemangioma Cavernoso/cirugía , Hemangioma Cavernoso/diagnóstico por imagen , Hemangioma Cavernoso/patología , Tomografía Computarizada por Rayos XRESUMEN
Vascular conjunctival tumors are uncommon, usually benign lesions. Here, we report a 65-year-old male who presented with a nasal interpalpebral bulbar firm, oval, and dark-brown and non-mobile conjunctival mass. The systemic and ocular examinations including fundoscopy and gonioscopy were within normal limits. With a diagnosis of conjunctival malignant melanoma (CMM), the patient underwent excisional biopsy, partial sclerectomy, and cryotherapy. Microscopic examination revealed dilated vascular channels filled by red blood cells, separated by fibrous interstitium and no sign of malignancy. Therefore, a diagnosis of conjunctival cavernous hemangioma was made. Our case demonstrates that the conjunctival cavernous hemangioma can mimic malignant conjunctival lesions as well as extrascleral extension of uveal melanoma or uveal prolapse due to scleral necrosis.
Asunto(s)
Neoplasias de la Conjuntiva , Hemangioma Cavernoso , Humanos , Masculino , Anciano , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/patología , Hemangioma Cavernoso/cirugía , Neoplasias de la Conjuntiva/diagnóstico , Neoplasias de la Conjuntiva/patología , Diagnóstico Diferencial , Conjuntiva/patologíaAsunto(s)
Hemangioma Cavernoso , Linfoma de Células B Grandes Difuso , Neoplasias Orbitales , Humanos , Linfoma de Células B Grandes Difuso/patología , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Hemangioma Cavernoso/diagnóstico por imagen , Hemangioma Cavernoso/patología , Neoplasias Orbitales/diagnóstico por imagen , Neoplasias Orbitales/patología , Masculino , Femenino , Persona de Mediana Edad , Neoplasias Primarias Múltiples/patología , Imagen por Resonancia MagnéticaAsunto(s)
Resección Endoscópica de la Mucosa , Hemangioma Cavernoso , Neoplasias del Recto , Humanos , Resección Endoscópica de la Mucosa/métodos , Neoplasias del Recto/cirugía , Neoplasias del Recto/patología , Hemangioma Cavernoso/cirugía , Hemangioma Cavernoso/diagnóstico por imagen , Hemangioma Cavernoso/patología , Masculino , Femenino , Persona de Mediana EdadRESUMEN
Extra-axial cavernous hemangiomas (ECHs) are complex vascular lesions mainly found in the spine and cavernous sinus. Their removal poses significant risk due to their vascularity and diffuse nature, and their genetic underpinnings remain incompletely understood. Our approach involved genetic analyses on 31 tissue samples of ECHs employing whole-exome sequencing and targeted deep sequencing. We explored downstream signaling pathways, gene expression changes, and resultant phenotypic shifts induced by these mutations, both in vitro and in vivo. In our cohort, 77.4% of samples had somatic missense variants in GNA14, GNAQ, or GJA4. Transcriptomic analysis highlighted significant pathway upregulation, with the GNAQ c.626A>G (p.Gln209Arg) mutation elevating PI3K-AKT-mTOR and angiogenesis-related pathways, while GNA14 c.614A>T (p.Gln205Leu) mutation led to MAPK and angiogenesis-related pathway upregulation. Using a mouse xenograft model, we observed enlarged vessels from these mutations. Additionally, we initiated rapamycin treatment in a 14-year-old individual harboring the GNAQ c.626A>G (p.Gln209Arg) variant, resulting in gradual regression of cutaneous cavernous hemangiomas and improved motor strength, with minimal side effects. Understanding these mutations and their pathways provides a foundation for developing therapies for ECHs resistant to current therapies. Indeed, the administration of rapamycin in an individual within this study highlights the promise of targeted treatments in treating these complex lesions.
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Subunidades alfa de la Proteína de Unión al GTP Gq-G11 , Subunidades alfa de la Proteína de Unión al GTP , Humanos , Subunidades alfa de la Proteína de Unión al GTP Gq-G11/genética , Animales , Ratones , Femenino , Masculino , Subunidades alfa de la Proteína de Unión al GTP/genética , Mutación , Adulto , Persona de Mediana Edad , Transducción de Señal , Hemangioma Cavernoso/genética , Hemangioma Cavernoso/patología , Adolescente , Secuenciación del Exoma , Sirolimus/farmacología , Sirolimus/uso terapéutico , Serina-Treonina Quinasas TOR/metabolismo , Serina-Treonina Quinasas TOR/genéticaAsunto(s)
Hemangioma Cavernoso , Humanos , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/patología , Hemangioma Cavernoso/diagnóstico por imagen , Hemangioma Cavernoso/cirugía , Hemangioma Cavernoso/patología , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico por imagen , Hemangioma Cavernoso del Sistema Nervioso Central/patología , Hemangioma Cavernoso del Sistema Nervioso Central/cirugía , Imagen por Resonancia MagnéticaRESUMEN
Vascular anomalies comprise a wide spectrum of clinical manifestations related to disturbances in the blood or lymph vessels. They correspond to mainly tumors (especially hemangiomas), characterized by high mitotic activity and proliferation of the vascular endothelium, and malformations, endowed with normal mitotic activity and no hypercellularity or changes in the rate of cell turnover. However, the classifications of these lesions go beyond this dichotomy and consist various systems adapted for and by different clinical subgroups. Thus, the classifications have not reached a consensus and have historically caused confusion regarding the nomenclatures and definitions. Cavernous venous malformations of the orbit, previously called cavernous hemangiomas, are the most common benign vascular orbital lesions in adults. Herein, we have compiled and discussed the various evidences, including clinical, radiological, morphological, and molecular evidence that indicate the non-neoplastic nature of these lesions.
Asunto(s)
Hemangioma Cavernoso , Neoplasias Orbitales , Humanos , Hemangioma Cavernoso/diagnóstico por imagen , Hemangioma Cavernoso/patología , Neoplasias Orbitales/diagnóstico por imagen , Neoplasias Orbitales/patología , Órbita/irrigación sanguínea , Órbita/diagnóstico por imagen , Órbita/patología , Malformaciones Vasculares/diagnóstico por imagen , Malformaciones Vasculares/patologíaRESUMEN
Cavernous hemangioma, currently known as "cavernous venous malformation," is a common, benign, non-infiltrative, slowly progressive vascular malformation of the orbit presenting in adults. We report the case of a 9-year-old girl who presented with a painless palpable mass over the right upper eyelid of 7 years' duration. A computed tomography scan of the orbits revealed a heterogeneously enhancing, well-circumscribed mass in the right upper eyelid with no orbital extension. A transcutaneous excisional biopsy with histopathology disclosed cavernous venous malformation. The majority of cavernous venous malformations are intraconal and present in the fourth to fifth decade of life.
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Hemangioma Cavernoso , Neoplasias Orbitales , Malformaciones Vasculares , Adulto , Femenino , Humanos , Niño , Neoplasias Orbitales/patología , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/cirugía , Hemangioma Cavernoso/patología , Órbita/patología , Malformaciones Vasculares/diagnóstico , Párpados/patologíaRESUMEN
A 37-year-old female patient was admitted to the hospital with a large liver mass, diagnosed as hepatic inflammatory myofibroblastic tumour (HIMT), characterized by unique radiographic features and predominantly occurring in adults. HIMT consists of myofibroblast spindle cells infiltrated by plasma cells and/or lymphocytes, with an unclear aetiology linked to factors like infection and immune response. Treatment typically involves surgical resection, with chemotherapy or targeted therapy options for cases of incomplete resection or metastasis, emphasizing the need for precise diagnosis and tailored treatment strategies.
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Hemangioma Cavernoso , Neoplasias Hepáticas , Neoplasias de Tejido Muscular , Adulto , Femenino , Humanos , Diagnóstico Diferencial , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/patología , Neoplasias de Tejido Muscular/diagnóstico , Neoplasias de Tejido Muscular/cirugía , Neoplasias Hepáticas/patologíaRESUMEN
Cavernomas are histologically benign vascular malformations found at different sites in the brain. A rare site for such cavernomas, however, is the anterior optic pathway, comprising the optic nerve, chiasma, and optic tract-called optochiasmatic cavernomas (OCC). These lesions usually present with sudden onset or progressive vision loss, headache, and features mimicking pituitary apoplexy. In this paper, we describe a case of OCC operated at our center. We carry out an updated review of literature depicting cases of OCC, their clinical presentation, management, and postoperative complications. We also propose a novel classification system based on lesion location and further analyze these cavernoma types with respect to the surgical approach used and visual outcome. A 30-year-old lady had presented with a 3-week history of progressive bilateral vision loss and headache. Based on imaging, she was suspected to have a cavernous angioma of the chiasma and left optic tract. Due to progressive vision deterioration, the lesion was surgically excised using pterional craniotomy. Postoperatively, her visual symptoms improved, but she developed diabetes insipidus. Clinical and radiological follow-up has been done for 18 months after surgery. A total of 81 cases have been described in the literature, including the present case. Chiasmal apoplexy is the most common presentation. Surgical excision is the standard of care. Our analysis based on lesion location shows the most appropriate surgical approach to be used for each cavernoma type. Visual outcome correlates with the preoperative visual status. Visual outcome is good in patients presenting with acute chiasmal apoplexy, and when complete surgical excision is performed. The endonasal endoscopic approach was found to provide the best visual outcome. In addition to preoperative visual status, complete surgical excision predicts favorable visual outcomes in OCC. Our proposed classification system guides the appropriate surgical approach required for a particular location of the cavernoma.
Asunto(s)
Hemangioma Cavernoso , Adulto , Femenino , Humanos , Cefalea , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/cirugía , Hemangioma Cavernoso/patología , Quiasma Óptico/cirugía , Nervio Óptico , Accidente Cerebrovascular , Trastornos de la Visión/etiologíaRESUMEN
The cervix of the uterus is a rare site for cavernous hemangiomas. Cervical hemangiomas are slow-growing tumors with characteristic histological findings, including dilated vessels with increased endothelial cells. Although their pathophysiology remains unclear, hormones are believed to play an important role in the development of these vascular tumors. They may be asymptomatic due to their small size, but they can cause gynecological and obstetrical complications, including abnormal uterine bleeding and impaired fertility. Due to their small size, conservative treatment is the first line of management. Hysterectomy is considered for refractory cases or for patients who are not of childbearing age. In this study, firstly, we presented a case of a 60-year-old postmenopausal female without any gynecological-related signs or symptoms with a polypoid nodule hanging over the anterior cervical wall through its stalk. The surgical biopsy revealed no signs of neoplastic changes, with the only notable finding being a benign vascular lesion representing a cavernous hemangiomatous cervical polyp. The patient underwent a total abdominal hysterectomy and bilateral salpingo-oophorectomy and she is currently healthy without any further abnormal findings. Additionally, we provided a comprehensive review of 137 cases in the literature since 1883, detailing their characteristics, signs and symptoms, and pathology.
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Hemangioma Cavernoso , Hemangioma , Femenino , Humanos , Persona de Mediana Edad , Cuello del Útero/patología , Células Endoteliales/patología , Hemangioma/cirugía , Hemangioma/complicaciones , Hemangioma/patología , Útero/patología , Hemangioma Cavernoso/cirugía , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/patologíaRESUMEN
Cavernous hemangioma is a benign vascular tumor occurring in all parts of the urinary system, including the kidney, bladder, prostate, ureter, and rarely urethra. Urethral cavernous hemangiomas are mostly seen in male patients, and only a few cases of female urethral hemangiomas are reported. Herein, we present the management and follow-up course of 3 cases of female urethral cavernous hemangioma. All 3 cases were menopause women complaining of lower urinary tract symptoms. Definitive diagnosis is made by histopathologic evaluation. In case of large or pedunculated masses, initial surgical resection is highly recommended. Regular follow-up of patients in order to prevent any recurrence is suggested.
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Hemangioma Cavernoso , Hemangioma , Humanos , Femenino , Masculino , Uretra/cirugía , Uretra/patología , Estudios de Seguimiento , Hemangioma Cavernoso/cirugía , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/patología , Hemangioma/diagnóstico , Hemangioma/patología , Hemangioma/cirugía , Vejiga Urinaria/patologíaAsunto(s)
Hemangioma Cavernoso , Neoplasias Hepáticas , Masculino , Humanos , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/cirugía , Neoplasias Hepáticas/patología , Hemangioma Cavernoso/diagnóstico por imagen , Hemangioma Cavernoso/cirugía , Hemangioma Cavernoso/patología , Imagen por Resonancia MagnéticaRESUMEN
Background: Hepatic hemangioma represents the most frequent benign tumor originating from the liver. When the tumor exceeds 10 cm, and in some studies 4 or 5 cm, it is considered giant, which accounts for 10% of all hemangiomas arising from the liver. Histologically, Sclerosing hepatic hemangioma, in particular, is an exceedingly rare subtype of hemangioma. Clinically Bornman-Terblanche-Blumgart syndrome is a very rare complication of hepatic hemangioma. Objective: The aim of this case presentation was to contribute to the literature by documenting a case of giant sclerosing hemangioma diagnosed in a 36-year-old female presenting with Bornman-Terblanche-Blumgart syndrome, along with a brief review of the literature. Case report: The current paper documents two rare clinical and histological features of hepatic hemangioma. Bornman-Terblanche-Blumgart syndrome is complicated a giant hepatic hemangioma found histologically to be sclerosing in nature. Knowledge about the uncommon complications of liver hemangioma permits the implementation of appropriate interventions in a timely manner and, in turn, can enhance the patient's quality of life and minimize rates of associated mortality.
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Hemangioma Cavernoso , Hemangioma , Histiocitoma Fibroso Benigno , Neoplasias Hepáticas , Femenino , Humanos , Adulto , Calidad de Vida , Hemangioma/complicaciones , Hemangioma/diagnóstico , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/patología , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/patologíaRESUMEN
ABSTRACT: A 65-year-old woman was referred to our hospital because of a liver lesion revealed by ultrasound and CT in an outside institution. 18 F-FDG PET/CT images revealed an FDG-avid lesion in the left lateral lobe of the liver. Malignancy cannot be excluded. A subsequent resection was performed to remove the lesion. Postoperative pathology was hepatic cavernous hemangioma. This case suggests that PET/CT findings of FDG-avid hepatic cavernous hemangioma could mimic malignancy.
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Hemangioma Cavernoso , Hemangioma , Neoplasias Hepáticas , Femenino , Humanos , Anciano , Tomografía Computarizada por Tomografía de Emisión de Positrones , Fluorodesoxiglucosa F18 , Tomografía de Emisión de Positrones , Neoplasias Hepáticas/patología , Hemangioma Cavernoso/patologíaRESUMEN
OBJECTIVE: Extra-axial cavernous hemangiomas (ECHs) are sporadic and rare intracranial occupational lesions that usually occur within the cavernous sinus. The aetiology of ECHs remains unknown. METHODS: Whole-exome sequencing was performed on ECH lesions from 12 patients (discovery cohort) and droplet digital polymerase-chain-reaction (ddPCR) was used to confirm the identified mutation in 46 additional cases (validation cohort). Laser capture microdissection (LCM) was carried out to capture and characterise subgroups of tissue cells. Mechanistic and functional investigations were carried out in human umbilical vein endothelial cells and a newly established mouse model. RESULTS: We detected somatic GJA4 mutation (c.121G>T, p.G41C) in 5/12 patients with ECH in the discovery cohort and confirmed the finding in the validation cohort (16/46). LCM followed by ddPCR revealed that the mutation was enriched in lesional endothelium. In vitro experiments in endothelial cells demonstrated that the GJA4 mutation activated SGK-1 signalling that in turn upregulated key genes involved in cell hyperproliferation and the loss of arterial specification. Compared with wild-type littermates, mice overexpressing the GJA4 mutation developed ECH-like pathological morphological characteristics (dilated venous lumen and elevated vascular density) in the retinal superficial vascular plexus at the postnatal 3 weeks, which were reversed by an SGK1 inhibitor, EMD638683. CONCLUSIONS: We identified a somatic GJA4 mutation that presents in over one-third of ECH lesions and proposed that ECHs are vascular malformations due to GJA4-induced activation of the SGK1 signalling pathway in brain endothelial cells.
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Hemangioma Cavernoso del Sistema Nervioso Central , Hemangioma Cavernoso , Humanos , Animales , Ratones , Células Endoteliales/metabolismo , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico por imagen , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Hemangioma Cavernoso del Sistema Nervioso Central/metabolismo , Hemangioma Cavernoso/metabolismo , Hemangioma Cavernoso/patología , Mutación , Transducción de SeñalRESUMEN
ABSTRACT: A 50-year-old woman underwent 18 F-FDG PET/CT to evaluate possible abdominal malignancy, which was revealed by CT. The images showed a large cystic-solid lesion with peripherally increased FDG activity in the left mid-abdomen. Histopathology of the excised lesion confirmed a jejunal cavernous hemangioma. We reported a rare case of jejunal cavernous hemangioma with FDG accumulation on PET/CT, mimicking malignancy.
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Neoplasias Abdominales , Hemangioma Cavernoso , Femenino , Humanos , Persona de Mediana Edad , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Fluorodesoxiglucosa F18 , Tomografía de Emisión de Positrones , Hemangioma Cavernoso/diagnóstico por imagen , Hemangioma Cavernoso/patologíaRESUMEN
A 12-year-old male neutered Australian Shepherd Dog was presented to Charlotte Animal Referral & Emergency with a history of a thoracic mass. On physical examination, physiological parameters were within the normal ranges, and a complete haemogram and serum biochemistry profile were unremarkable except for mild thrombocytopenia. A computed tomography scan revealed a 21 × 15 × 12.7 cm thoracic mass encompassing the cranial mediastinum and extending to the right caudal thorax. The mass was surgically removed and histopathological evaluation revealed that it comprised remnants of the thymus and a neoplasm composed of large blood-filled vascular spaces lined by a single layer of endothelial cells with mild anisocytosis and anisokaryosis. The neoplastic cells had diffuse strong immunolabeling for endothelial cell marker CD31. Multifocally, there were large cystic degenerated areas of thymic tissue lined by plump cytokeratin AE1/AE3-positive epithelial cells. Based on these findings, a diagnosis of thymic cavernous haemangioma (CH) was made. Thymic CH is rare in animals, with the only reported case in a cross bred cow. To our knowledge, this is the first case of a thymic CH in a dog.
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Enfermedades de los Bovinos , Enfermedades de los Perros , Hemangioma Cavernoso , Masculino , Femenino , Bovinos , Perros , Animales , Células Endoteliales/patología , Australia , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/patología , Hemangioma Cavernoso/veterinaria , Enfermedades de los Perros/patología , Tomografía Computarizada por Rayos XRESUMEN
AIMS: To determine the incidence and risk factors for poor postoperative visual outcome (PPVO) after removal of orbital cavernous venous malformations (OCVMs). METHODS: Retrospective case-note and imaging review for patients undergoing excision of OCVMs, with estimation of odds-ratios (ORs) and relative risks (RRs) for visual loss in relation to the position of the mass, surgical approach, and patient factors. RESULTS: The 290 patients (179 female; 62%) presented at a mean age of 46.4 years: 243/287 (85%) OCVMs were intraconal, with 213/243 (88%) located freely in the posterior two-thirds of the orbit, and 30/243 (12%) wedged tightly in the apex. PPVO was observed in 6.9% (20/290) patients, solely after removal of intraconal lesions, Univariate analysis showed increased risk with preoperative relative afferent pupillary defect (RAPD) (14/107 [13%]; RR 2.9; P = 0.011), apical lesions (9/30 [30%]; RR 5.8; P < 0.001), situated below optic nerve (15/115 [13%]; RR 3.3; P = 0.007), fibrous masses (14/78 [18%]; RR 6.7; P = 0.005), or intraoperative diastolic blood pressure below 50mmHg (10/64 [16%]; RR 2.8; P = 0.007). Multivariate analysis found apical extension (OR 4.9; P = 0.036) and fibrous lesions (OR 10.0; P = 0.035) as strongest predictors for PPVO. The incidence of complete visual loss (no light perception) was 4.1% (12/290); half of these patients had preoperative acuity of counting fingers or worse, 8 (67%) had RAPD, 7 (58%) wedged apical lesions, and 8 (67%) were below the optic nerve. CONCLUSION: PPVO after excision of OCVMs can occur in up to 5% of "free" retrobulbar intraconal lesions and in approximately one-third of apical lesions.