scholarly journals BAP1 Germline Mutation Associated with Bilateral Primary Uveal Melanoma

2019 ◽  
Vol 6 (1) ◽  
pp. 10-14 ◽  
Author(s):  
Michael D. Yu ◽  
Babak Masoomian ◽  
Jerry A. Shields ◽  
Carol L. Shields
Keyword(s):  
Visual Acuity ◽  
Uveal Melanoma ◽  
Choroidal Melanoma ◽  
Pathogenic Mutation ◽  
Clinical Testing ◽  
Plaque Radiotherapy ◽  
Systemic Metastasis ◽  
History Of ◽  
History Of Cancer

Purpose: To describe the occurrence of bilateral primary uveal melanoma in 2 patients with mutation on the gene encoding BRCA1-associated protein 1 (BAP1). Methods: Retrospective chart review of patients with bilateral primary uveal melanoma and subsequent positive germline BAP1 mutation. Results: There were 2 patients with bilateral uveal melanoma and BAP1 germline positivity. Neither patient demonstrated oculodermal melanocytosis. Patient 1 underwent enucleation of his right eye (OD) at the age of 44 years for a 9.6-mm-thick choroidal melanoma. He returned 4 years later with a 10.0-mm-thick choroidal melanoma in his left eye (OS) and was treated with plaque radiotherapy. He had a strong family history of cancer, and clinical testing for germline BAP1 mutation identified a pathogenic mutation in BAP1. At the 18-month follow-up, visual acuity was 20/200 OS without evidence of systemic metastasis. Patient 2 initially presented at age 54 years with extensive, diffuse iris melanoma OD, initially treated with plaque radiotherapy, but local recurrence after 3 years necessitated enucleation. Four years later, a 6.0-mm-thick ciliary body melanoma OS was found and successfully treated with plaque radiotherapy. Clinical testing for germline BAP1 mutation identified a pathogenic mutation in BAP1. At the 8-year follow-up, visual acuity was 20/40 OS without evidence of local recurrence or systemic metastasis. The patient expired secondary to an unrelated brain infarction. Conclusion: Bilateral uveal melanoma is exceedingly rare. Patients with bilateral uveal melanoma, especially when coincident with remote systemic cancers or a family history of cancer, should be evaluated for germline BAP1 mutation. Lifelong monitoring for related systemic malignancies is advised.

scholarly journals Metastasis of Ciliary Body Melanoma to the Contralateral Eye: A Case Report and Review of Uveal Melanoma Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-5
Author(s):  
Nouritza M. Torossian ◽  
Roy T. Wallace ◽  
Wen-Jen Hwu ◽  
Agop Y. Bedikian
Keyword(s):  
Uveal Melanoma ◽  
Medical Literature ◽  
Recurrent Disease ◽  
Clinical History ◽  
Plaque Radiotherapy ◽  
Systemic Metastasis ◽  
History Of ◽  
Contralateral Eye ◽  
The Right ◽  
Ciliary Body Melanoma

Many types of cancers metastasize to the eye. However, uveal melanoma metastasizing to the contralateral choroid is very rare. We report the case of a 68-year-old man with history of treated uveal melanoma of the right eye that developed metastasis to the liver and the choroid of the left eye. Ten years earlier, he was diagnosed to have uveal melanoma of the right eye and was initially treated with plaque radiotherapy. Two years later, upon progression of the disease in the right eye he had enucleation of the eye. We describe the patient’s clinical history, the diagnosis of recurrent disease in the contralateral eye, therapy of the left eye, and systemic metastasis. In addition, we reviewed the published medical literature and described the recent advances in the management of uveal melanoma.

scholarly journals 1730P Cancer long survivor artificial intelligence follow-up (CLARIFY): Family history of cancer and lung cancer

2021 ◽  
Vol 32 ◽  
pp. S1198-S1199
Author(s):  
V. Calvo ◽  
E. Niazmand ◽  
E. Carcereny ◽  
S. Jozashoori ◽  
D. Rodriguez ◽  
...  
Keyword(s):  
Artificial Intelligence ◽  
Lung Cancer ◽  
Family History ◽  
Family History Of Cancer ◽  
History Of ◽  
History Of Cancer

scholarly journals Whole-Body SPECT/CT versus Planar Bone Scan with Targeted SPECT/CT for Metastatic Workup

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Olivier Rager ◽  
René Nkoulou ◽  
Nadia Exquis ◽  
Valentina Garibotto ◽  
Claire Tabouret-Viaud ◽  
...  
Keyword(s):  
Bone Metastases ◽  
Whole Body ◽  
Significant Difference ◽  
Planar Images ◽  
History Of ◽  
Bone Scans ◽  
Base Of The Skull ◽  
History Of Cancer ◽  
Higher Sensitivity

Purpose. The use of SPECT/CT in bone scans has been widespread in recent years, but there are no specific guidelines concerning the optimal acquisition protocol. Two strategies have been proposed: targeted SPECT/CT for equivocal lesions detected on planar images or systematic whole-body SPECT/CT. Our aim was to compare the diagnostic accuracy of the two approaches. Methods. 212 consecutive patients with a history of cancer were referred for bone scans to detect bone metastases. Two experienced readers randomly evaluated for each patient either planar images with one-field SPECT/CT targeted on equivocal focal uptakes (targeted SPECT/CT) or a whole-body (two-field) SPECT/CT acquisition from the base of the skull to the proximal femurs (whole-body SPECT/CT). The exams were categorized as “nonmetastatic,” “equivocal,” or “metastatic” on both protocols. The presence or absence of any extra-axial skeletal lesions was also assessed. The sensitivity and specificity of both strategies were measured using the results of subsequent imaging follow-up as the reference standard. Results. Whole-body SPECT/CT had a significantly higher sensitivity than targeted SPECT/CT to detect bone metastases (p=0.0297) and to detect extra-axial metastases (p=0.0266). There was no significant difference in specificity among the two approaches. Conclusion. Whole-body SPECT/CT is the optimal modality of choice for metastatic workup, including detection of extra-axial lesions, with improved sensitivity and similar specificity compared to targeted SPECT/CT.

Diagnosis and treatment of peripheral exudative haemorrhagic chorioretinopathy

2019 ◽  
Vol 104 (6) ◽  
pp. 874-878 ◽  
Author(s):  
Sarah Vandefonteyne ◽  
Jean-Pierre Caujolle ◽  
Laurence Rosier ◽  
John Conrath ◽  
Gabriel Quentel ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Multimodal Imaging ◽  
Chart Review ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Treatment Options ◽  
Treatment Strategies ◽  
Choroidal Melanoma ◽  
Endothelial Growth Factor

PurposePeripheral exudative haemorrhagic chorioretinopathy (PEHCR) is a rare disorder that is often misdiagnosed. The aim of this study was to better characterise PEHCR and to assess treatment options.Material and methodsRetrospective multicentric chart review.ResultsOf 84 eyes (69 patients) with PEHCR referred between 2005 and 2017, the most common referral diagnosis was choroidal melanoma (41.3%). Bilateral involvement was found in 21.7% of cases. Haemorrhagic retinal pigment epithelium detachment was the most common peripheral lesion (53.6%). Maculopathy was associated with peripheral lesions in 65.8% of cases. PEHCR lesions were mostly heterogeneous (58.8%) on B-scan ultrasonography. Choroidal neovascularisation was found in 10 eyes (26.3%) out of 38 eyes that underwent fluorescein angiography. Polyps were observed in 14 eyes (58.3%) out of 24 eyes that underwent indocyanine green angiography. Fifty-one eyes were treated (62.2%). Intravitreal injections (IVTI) of antivascular endothelial growth factor (VEGF) were the most used treatment (36.6%) before laser photocoagulation, photodynamic therapy, vitrectomy and cryotherapy. Only vitrectomy improved visual acuity. Most lesions (65.6%) regressed at the last follow-up visit.ConclusionIn case of PEHCR, multimodal imaging is useful to avoid misdiagnosis, to characterise PEHCR lesions and to guide treatment strategies. Regression of PEHCR lesions was observed in two-thirds of the patients. Vitrectomy improved visual acuity. More than a third of patients underwent anti-VEGF IVTI. Further studies are needed to assess IVTI’s efficacy.

Intravitreal Dexamethasone Implant (Ozurdex®) for Exudative Retinal Detachment after Proton Beam Therapy for Choroidal Melanoma

2017 ◽  
Vol 27 (5) ◽  
pp. 596-600 ◽  
Author(s):  
Ariane Malclès ◽  
Anh-Minh Nguyen ◽  
Thibaud Mathis ◽  
Jean-Daniel Grange ◽  
Laurent Kodjikian
Keyword(s):  
Visual Acuity ◽  
Retinal Detachment ◽  
Proton Beam ◽  
Safety Profile ◽  
Choroidal Melanoma ◽  
Case Series ◽  
Proton Beam Therapy ◽  
Exudative Retinal Detachment ◽  
Dexamethasone Implant

Purpose To evaluate the efficacy and safety of intravitreal 0.7-mg dexamethasone implant (DEX-I) (Ozurdex®) in the treatment of extensive exudative retinal detachment (RD) associated with uveal melanoma treated using proton beam therapy (PBT). Methods Data from 10 patients with exudative RD after PBT treated with intravitreal injection of 0.7-mg DEX-I were reviewed retrospectively. The main outcome measures were resolution of exudative RD, visual acuity, and safety profile. Results Mean age was 55.6 years (range 34-85). Mean time between PBT and DEX-I was 12.4 months (range 3-25). Mean follow-up was 9.9 months (range 4-15). Intravitreal Ozurdex® reduced exudative RD in 7 cases (70%) on average 3.1 months after injection with complete resolution of RD in 6 of these (60%). For half of the patients, their level of vision remained stable; the other half experienced a deterioration in visual acuity at the end of follow-up. No adverse effects were observed. Conclusions In this small case series, treatment with intravitreal DEX-I reduced exudative RD in the majority of cases and had an acceptable safety profile.

scholarly journals A Case of Secondary Epiretinal Membrane Spontaneous Release

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Andrey N. Andreev ◽  
Alexey V. Bushuev ◽  
Sergey N. Svetozarskiy
Keyword(s):  
Visual Acuity ◽  
Epiretinal Membrane ◽  
Retinal Edema ◽  
Vein Occlusion ◽  
Case Summary ◽  
History Of ◽  
Waiting Strategy ◽  
Watchful Waiting Strategy ◽  
Retinal Photocoagulation

Purpose. To report a rare case of secondary epiretinal membrane (ERM) spontaneous separation with subsequent visual restoration. Case Summary. We are reporting a case with the history of branch retinal vein occlusion, peripheral retinal neovascularization, and retinal photocoagulation. Our examination revealed secondary ERM associated with relatively high visual acuity (0.6), and a watchful waiting strategy was chosen. During the follow-up, slight visual deterioration, progressive deformation of the retinal profile, and an increase in diffuse retinal edema were observed. No surgical or laser treatment was performed. On the next visit, the spontaneous ERM separation with residual parapapillary fixation, the increase in visual acuity (0.9), and the decrease in retinal thickness were revealed. Conclusion. Such cases present additional evidence to a deferral surgical strategy for the management of patients with ERM and relatively high visual acuity.

scholarly journals Glasgow Aneurysm Score: a predictor of long-term mortality following endovascular repair of abdominal aortic aneurysm?

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Anıl Özen ◽  
Metin Yılmaz ◽  
Görkem Yiğit ◽  
İsa Civelek ◽  
Mehmet Ali Türkçü ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Fold Increase ◽  
Abdominal Aortic ◽  
History Of ◽  
Group 2 ◽  
History Of Cancer ◽  
Long Term Mortality ◽  
Group 1

Abstract Background To evaluate the value of Glasgow Aneurysm Score (GAS) in predicting long-term mortality and survival in patients who have undergone endovascular aortic aneurysm repair (EVAR) for abdominal aortic aneurysm (AAA). Methods A retrospective single-center study of 257 patients with non-ruptured AAA undergoing EVAR between January 2013 and 2021. GAS scores were compared between the survivors (group 1) and the long-term mortality (group 2) groups. Cox regression analysis was used to determine independent predictors of late mortality. Receiver operating characteristic curve (ROC) analysis was used to determine the optimum cut-off values of GAS values to determine the effect on late-mortality. Survival analysis was conducted using Kaplan-Meier. Results The study included 257 patients with a mean age of 69.75 ± 7.75 (46–92), who underwent EVAR due to AAA. Average follow up period was 18.98 ± 22.84 months (0–88). Fourty-five (17.8%) mortalities occured during long-term follow-up. A past medical history of cancer resulted in a 2.5 fold increase in risk of long-term mortality (OR: 2.52, 95% CI 1.10–5.76; p = 0.029). GAS values were higher in group 2 compared to group 1 (81.02 ± 10.33 vs. 73.73 ± 10.46; p < 0.001). The area under the ROC curve for GAS was 0.682 and the GAS cut-off value was 77.5 (specificity 64%, p < 0.001). The mortality rates in patients with GAS < 77.5 and GAS > 77.5 were: 12.8% and 24.8% respectively (p = 0.014). Every 10 point increase in GAS resulted in approximately a 2 fold increase in risk of long-term mortality (OR: 1.8, 95% CI 1.3–2.5; p < 0.001). Five year survival rates in patients with GAS < 77.5 and > 77.5 were 75.7% and 61.7%, respectively (p = 0.013). Conclusions The findings of our study suggests that an increase in GAS score may predict long-term mortality. In addition, the mortality rates in patients above the GAS cut-off value almost doubled compared to those below. Furthermore, the presence of a past history of cancer resulted in a 2.5 fold increase in long-term mortality risk. Addition of cancer to the GAS scoring system may be considered in future studies. Further studies are necessary to consolidate these findings.

scholarly journals Case Report: Phototherapeutic Keratectomy for Band Keratopathy Secondary to Chemo-Laser-Cryotherapy for Retinoblastoma

2021 ◽  
Vol 8 ◽  
Author(s):  
Ruoyan Wei ◽  
Meiyan Li ◽  
Weiming Yang ◽  
Haipeng Xu ◽  
Joanne Choi ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Corneal Thickness ◽  
Phototherapeutic Keratectomy ◽  
White Band ◽  
Corrected Distance Visual Acuity ◽  
Band Keratopathy ◽  
History Of ◽  
Distant Visual Acuity ◽  
The Right

Purpose: To report the clinical outcomes of phototherapeutic keratectomy (PTK) for pediatric band keratopathy after treatment for retinoblastoma.Methods: A 5-year-old boy presented with a 2-year history of poor visual acuity and a horizontal gray-white band across the central cornea in the right eye. He was diagnosed with band keratopathy after chemo-laser-cryotherapy for retinoblastoma. The band keratopathy was treated via PTK using the Mel-90 excimer laser with an optical treatment zone of 7.0 mm and ablation depth of 120 μm. The patient was followed at 1 week and 3 months postoperatively.Results: Surgery and postoperative follow-up were uneventful. At the 3-month follow-up, the uncorrected distant visual acuity of the right eye improved to 20/125, and the corrected distance visual acuity improved to 20/70 with a refraction of +10.00 D/−2.50 DC × 15. The clarity of the ablated area was evidently improved. The central corneal thickness decreases from 612 to 584 μm. The optical coherence tomography showed the thin band of hyperreflectivity in the ablated area disappeared, corneal transparency improved and the corneal surface smoothened.Conclusions: PTK is a safe and effective procedure to treat band keratopathy following treatment of retinoblastoma in children. Early intervention can reduce the risk of developing deprivation amblyopia.

scholarly journals Szaruhártya-lerakódások bizonytalan jelentőségű monoklonális gammopathiában. Irodalmi áttekintés és esetbemutatás

2018 ◽  
Vol 159 (39) ◽  
pp. 1575-1583 ◽  
Author(s):  
Orsolya Németh ◽  
Beáta Tapasztó ◽  
Sándor Tar ◽  
Viktória Szabó ◽  
Zoltán Zsolt Nagy ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Monoclonal Gammopathy ◽  
Plasma Cells ◽  
Systemic Disease ◽  
Inflammatory Cells ◽  
Protein Deposition ◽  
Corrected Visual Acuity ◽  
History Of ◽  
Proper Diagnosis

Abstract: To summarize ophthalmological signs of monoclonal gammopathy of undetermined significance (MGUS) and to present a case report. Summary of the literature data and presentation of the history of a 46-year-old female patient. In MGUS, pathological, but non-malignant plasma cells produce abnormal monoclonal immunoglobulin. Its prevalence is 0.15%, but it increases with age. As yearly 1–2% of MGUS patients develop multiple myeloma, frequent hematological follow-up is necessary. Corneal opacifications in MGUS have been described in a few dozens of patients in the literature. These may be nummular or crystal-like, or even present with white or grey line-forming depositions in the stroma. They may be centrally or peripherally localized. In our patient, bilateral, branching, geographical corneal opacifications were detected predescemetally, that were progressing and reaching the optical centre during follow-up. With 0.15 best corrected visual acuity, penetrating keratoplasty was performed (postoperative best spectacle-corrected visual acuity 0.6). Masson trichrom staining of the explanted cornea verified protein deposition, immunhistochemistry identified kappa light chain immunglobulin deposition in the posterior stroma, surrounded with inflammatory cells. Serum electrophoresis and bone marrow biopsy of our patient proved MGUS, therefore, hematological follow-up is going on. In the case of progressive, atypical corneal opacification, the hematological diagnosis of monoclonal gammopathy must be excluded – monoclonal gammopathy of ocular significance –, as delay in proper diagnosis and treatment of the systemic disease may have devastating consequences. Orv Hetil. 2018; 159(39): 1575–1583.

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