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Clinical Immunology (Orlando, Fla.) Jun 2024Adult orbital xanthogranulomatous disease (AOXGD) is a spectrum of histiocytoses with four subtypes. Mitogen-activated protein kinase (MAPK) pathway mutations have been...
Adult orbital xanthogranulomatous disease (AOXGD) is a spectrum of histiocytoses with four subtypes. Mitogen-activated protein kinase (MAPK) pathway mutations have been detected in various histiocytic neoplasms, little is known about this in AOXGD. Targeted regions of cancer- and histiocytosis-related genes were analyzed and immunohistochemical staining of phosphorylated ERK (pERK), cyclin D1 and PU.1 was performed in 28 AOXGD and 10 control xanthelasma biopsies to assess MAPK pathway activation. Mutations were detected in 7/28 (25%) patients. Positive staining for pERK and/or cyclin D1 was found across all subtypes in 17/27 (63%) patients of whom 12/17 (71%) did not harbour a mutation. Xanthelasma tissue stained negative for pERK and cyclin D1. Relapse occurred in 5/7 (71%) patients with a MAPK pathway mutation compared to 8/21 (38%) patients in whom no mutation could be detected. Molecular analysis and evaluation for systemic disease is warranted to identify patients at risk of recurrent xanthomatous disease.
PubMed: 38936524
DOI: 10.1016/j.clim.2024.110299 -
BMJ Case Reports Jun 2024A patient in his 20s presented with a change in the appearance of his left eye with evidence of relative afferent pupillary defect. Imaging revealed a giant...
A patient in his 20s presented with a change in the appearance of his left eye with evidence of relative afferent pupillary defect. Imaging revealed a giant frontoethmoidal osteoma, a benign sinonasal tumour, invading three-quarters of the orbit. Multidisciplinary discussion involving opthalmology, maxillofacial surgery, neurosurgery and otolaryngology resulted in the decision to attempt entirely endoscopic excision of this lesion, which was performed with successful outcomes. This case demonstrates how a sinonasal osteoma should be considered in the differential diagnosis for a patient presenting with proptosis or other eye signs suggestive of compression of the orbital compartment. This case report and literature review highlights the possibility of managing giant sinonasal osteomas with orbital extension through a completely endoscopic approach.
Topics: Humans; Osteoma; Male; Endoscopy; Paranasal Sinus Neoplasms; Ethmoid Bone; Orbital Neoplasms; Ethmoid Sinus; Orbit; Frontal Sinus; Tomography, X-Ray Computed; Young Adult; Exophthalmos; Diagnosis, Differential; Adult
PubMed: 38926120
DOI: 10.1136/bcr-2023-259236 -
Orbit (Amsterdam, Netherlands) Jun 2024Primary tumors of the lacrimal sac (PTLS) are a rare subtype of ocular adnexa tumors, with potentially life-threatening clinical course. There has been growing evidence...
Primary tumors of the lacrimal sac (PTLS) are a rare subtype of ocular adnexa tumors, with potentially life-threatening clinical course. There has been growing evidence of human papilloma virus (HPV) as an etiological agent in these tumors.In this retrospective observational case series, we report three cases of PTLS. All three underwent an initial dacryocystorhinostomy revealing a tissular mass in the lacrimal sac. Histological findings were respectively epithelial papilloma, epithelial Malpighian papilloma, and undifferentiated epidermoid carcinoma. PCR evaluation identified HPV serotype 6 in the first case and 16 in the third, and high p16 expression was found in the second case.These three cases of PTLS with HPV detection complement 36 other cases identified in the literature, further incriminating HPV in the pathogenesis of these neoplasms. Ophthalmologists must remain wary of chronic lacrimal occlusion symptoms, and resort to CT scan and orbital Doppler sonography whenever first-line treatment fails.
PubMed: 38913546
DOI: 10.1080/01676830.2024.2370056 -
Ophthalmology Jun 2024To review the efficacy and safety of the use of intraoperative image guidance (IIG) in orbital and lacrimal surgery.
PURPOSE
To review the efficacy and safety of the use of intraoperative image guidance (IIG) in orbital and lacrimal surgery.
METHODS
A literature search of the PubMed database was last conducted in November 2023 for English-language original research that assessed the use of any image guidance system in orbital and lacrimal surgery that included at least 5 patients. The search identified 524 articles; 94 were selected for full-text analysis by the panel. A total of 32 studies met inclusion criteria. The panel methodologist assigned a level II rating to 2 studies and a level III rating to 30 studies. No study met the criteria for level I evidence.
RESULTS
Procedures reported on were as follows: fracture repair (n = 14), neoplasm and infiltrate biopsy or excision (n = 6), orbital decompression for Graves ophthalmopathy (n = 3), dacryocystorhinostomy (n = 1), and mixed etiology and procedures (n = 8). Four studies used more than one IIG system. One study that met level II evidence criteria compared the outcomes of orbital fracture repair with IIG (n = 29) and without IIG (n = 29). Borderline better outcomes were reported in the IIG group: 2% versus 10% with diplopia (P = 0.039) and 3% versus 10% with enophthalmos (P = 0.065). The other level II study compared the repair of fractures with navigation (n = 20) and without (n = 20). The group in which navigation was used had a measured mean volume reduction of 3.82 cm compared with 3.33 cm (P = 0.02), and there was a greater measured reduction in enophthalmos in the navigation group of 0.72 mm (P = 0.001). Although the remaining 30 assessed articles failed to meet level II criteria, all alleged a benefit from IIG. No complications were reported.
CONCLUSIONS
A small number of comparative studies suggest that there are improved outcomes when IIG is used in orbital fracture repair, but each study suffers from various limitations. No high-quality comparative studies exist for the management of lacrimal surgery, neoplastic disease, or decompression. Complications attributable to the use of IIG have not been identified, and IIG has not been analyzed for cost savings.
FINANCIAL DISCLOSURE(S)
Proprietary or commercial disclosure may be found after the references.
PubMed: 38912980
DOI: 10.1016/j.ophtha.2024.05.014 -
Journal of Pediatric Hematology/oncology Jul 2024
Topics: Humans; Male; Female; Orbital Neoplasms; Child
PubMed: 38912834
DOI: 10.1097/MPH.0000000000002880 -
BMC Cancer Jun 2024Nasopharyngeal adenoid cystic carcinoma (NACC) is a relatively rare salivary gland tumor that is generally associated with poor outcomes. High-dose radiotherapy is a key...
BACKGROUND
Nasopharyngeal adenoid cystic carcinoma (NACC) is a relatively rare salivary gland tumor that is generally associated with poor outcomes. High-dose radiotherapy is a key treatment for patients with NACC. This study reported the long-term efficacy and safety of particle beam radiation therapy (PBRT) for NACC.
METHODS AND MATERIALS
Twenty-six patients with nonmetastatic NACC who received definitive PBRT alone were included in this retrospective study. The majority of patients (92.3%) had locally advanced disease. Twenty-five (96.15%) patients received intensity-modulated proton radiotherapy (IMPT) followed by a carbon ion radiotherapy (CIRT) boost, and one patient received CIRT alone. Overall survival (OS), local control (LC), regional control (RC), and distant metastasis control (DMC) rates were calculated via the Kaplan-Meier method.
RESULTS
The median follow-up time was 46.95 months for the entire cohort. Seven patients experienced local recurrence, and one patient experience neck lymph node recurrence. The 3- and 4-year OS, LC, RC, and DMC rates were 100% and 91.7%, 92.3% and 84.6%, 95.8% and 87.8%, and 90.2% and 71.3%, respectively. A total of 91.3% of the patients achieved complete remission of gross tumors at 1 year after PBRT. Severe acute toxicity was observed in only two patients. A grade 4 decrease in visual acuity was observed in one patient with orbital apex invasion. No late grade 3 or 5 toxicity was observed.
CONCLUSION
Definitive PBRT provided a satisfactory 4-year OS for patients with locally advanced NACC. The toxicity was acceptable and mild. Further follow-up is necessary to confirm the efficacy and safety of definitive PBRT for patients with NACC.
Topics: Humans; Carcinoma, Adenoid Cystic; Male; Female; Middle Aged; Nasopharyngeal Neoplasms; Adult; Retrospective Studies; Treatment Outcome; Aged; Proton Therapy; Radiotherapy, Intensity-Modulated; Young Adult; Follow-Up Studies; Nasopharyngeal Carcinoma; Neoplasm Recurrence, Local; Heavy Ion Radiotherapy
PubMed: 38890585
DOI: 10.1186/s12885-024-12471-8 -
Journal of Cranio-maxillo-facial... Jun 2024The orbital cavity is a subject of interest for various specialists, and achieving optimal outcomes requires comprehensive, multidisciplinary management. This study aims...
The orbital cavity is a subject of interest for various specialists, and achieving optimal outcomes requires comprehensive, multidisciplinary management. This study aims to report 10 years of experience in the preoperative, surgical, and postoperative care of patients with orbital lesions, examining their clinical, radiological, and anatomopathological features and outcomes. A retrospective review of 125 patients who underwent surgical treatment for intraorbital masses between January 2012 and December 2021 was performed. Outcome measures included postoperative diplopia, exophthalmos, decimal visual acuity, eyeball position, ocular motility, operative time, complications, and aesthetic results. A total of 107 patients were included. All cases were discussed with a neuroradiologist to determine the best therapeutic approach based on preoperative imaging. Preoperative diplopia was linked to extraconal (p = 0.03) and anterior (p = 0.001) lesions, and exophthalmos and visual acuity deterioration were associated with intraconal (p = 0.02; p = 0.03) and retrobulbar (p = 0.001; p = 0.02) lesions. Complications (11.2%) included diplopia, worsened visual acuity, postoperative blepharoptosis, and postoperative ectropion. Of the patients, 80.4% reported an "excellent" aesthetic outcome. This study underscores the importance of a multidisciplinary approach based on a thorough analysis of preoperative imaging. Periorbital approaches tailored to the lesion's three-dimensional location enables safe access to most intraorbital lesions, resulting in minimal complications and good aesthetic results.
PubMed: 38876957
DOI: 10.1016/j.jcms.2024.06.019 -
Strahlentherapie Und Onkologie : Organ... Jun 2024Abscopal effects have been reported predominantly in metastatic cancers, indicating a radiographic response in a lesion that has not been included in the radiotherapy...
Regression of all untreated lesions in multifocal low-grade meningioma following fractionated stereotactic radiotherapy-abscopal effect or spontaneous regression? : Case report and review of the literature.
PURPOSE
Abscopal effects have been reported predominantly in metastatic cancers, indicating a radiographic response in a lesion that has not been included in the radiotherapy target volume. The response is interpreted as a humoral immune response to radiotherapy-generated tumour-specific antigens. In this case study, we present the first histologically confirmed multifocal low-grade meningioma with spontaneous regression of all other lesions after conventionally fractionated stereotactic radiotherapy (RT).
CASE REPORT
Two localisations, right frontal and right spheno-orbital, were resected at the time of the initial diagnosis in a 66-year-old woman. RT was performed 1 year later to a progressive occipital lesion at the cerebral falx.
RESULTS
Regular magnetic resonance imaging (MRI) showed slightly decreasing tumour volume in untreated lesions 1 year after RT and continued during further follow-up. Up to > 7 years after treatment, MRI demonstrated an almost complete response of all initial lesions. Two prior reports with meningioma were published in one patient with an atypical meningioma after conventionally fractionated RT and another patient with an intracranial meningiomatosis after radiosurgery.
CONCLUSION
This case study supports the concepts of treating only progressive or symptomatic meningioma lesions locally and careful regular MRI surveillance for further assessment. Potential active interventions to trigger an abscopal effect are currently not known. Further research of this beneficial effect for our patients should be supported.
PubMed: 38871938
DOI: 10.1007/s00066-024-02248-0 -
International Journal of Surgery Case... Jul 2024Cancer metastatic to the orbit may be difficult to distinguish from idiopathic orbital pseudotumor at clinical and radiological examination. This case report describes...
INTRODUCTION
Cancer metastatic to the orbit may be difficult to distinguish from idiopathic orbital pseudotumor at clinical and radiological examination. This case report describes clinical, radiological features, differential diagnosis, and treatment options for orbital neoplasms of unknown origin.
PRESENTATION OF CASE
A 63-year-old woman presented to our Unit because of orbital swelling, ocular pain, globe displacement, conjunctival chemosis, and progressive vision loss. The patient had been seen by an ophthalmologist at another hospital. The initial diagnosis was idiopathic orbital pseudotumor. Steroid therapy did not resolve clinical symptoms. Her medical history held decisive clues: ten years before this presentation she had been diagnosed with double primary breast cancer, invasive lobular breast carcinoma, and invasive ductal breast carcinoma. Orbital biopsy was performed for differential diagnosis.
DISCUSSION
Considering the rapid onset and severity of symptoms, the radiological features of the orbit, and the patient's medical history of breast cancer, orbital metastasis should have been the most likely diagnosis. Orbital biopsy was performed because of the history of multiple primary cancers and because metastatic origin had to be determined to define the best treatment strategy.
CONCLUSION
Biopsy is necessary under specific circumstances in the diagnosis of orbital metastasis, especially when presentation is ambiguous and when differential diagnosis is challenging. A patient's medical history may hold vital clues to correct diagnosis.
PubMed: 38852566
DOI: 10.1016/j.ijscr.2024.109845 -
Cureus May 2024Optic nerve schwannoma is a very rarely occurring tumor described in the literature. It is due to the fact that the optic nerve is myelinated by oligodendrocytes....
Optic nerve schwannoma is a very rarely occurring tumor described in the literature. It is due to the fact that the optic nerve is myelinated by oligodendrocytes. Schwannomas are tumors of the peripheral nervous system, hence optic nerve schwannoma is a rare phenomenon. A 34-year-old patient presented in the outpatient department with complaints of gradual painless protrusion of the left eye (LE) for the past one year. There was no history of diminution of vision. On examination, vision in both eyes was 6/6, anterior segment examination in both eyes was normal, and pupils were central, circular, and reacting to light. Intraocular pressure was measured on a noncontact tonometer and was within normal range. Both eyes' optic disc, fundus, and visual fields were normal. On inspection, axial proptosis was noted in the LE. Proptosis measurement (on Hertel exophthalmometer) in the right eye was 17 mm and in the left eye was 21 mm. MRI of the orbit without contrast was done and showed a well-defined, soft tissue lesion of the optic nerve in the intraconal compartment of the left orbit. Surgical excision of the tumor was done by lateral orbitotomy approach and the tumor was removed in total. Histopathological examination of the mass revealed a benign spindle cell neoplasm suggestive of schwannoma. Postoperatively, proptosis was resolved, 17 mm both in the right and left eye (on Hertel exophthalmometer), and vision in LE remained unchanged (6/6). Postoperatively, intraocular pressure (on noncontact tonometer) was within normal range, and the optic disc, fundus, and visual fields were normal.
PubMed: 38846181
DOI: 10.7759/cureus.59824