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1.
Diagnostics (Basel) ; 14(9)2024 May 02.
Article in English | MEDLINE | ID: mdl-38732371

ABSTRACT

(1) Background: Uveal melanoma (UM) is a common malignant intraocular tumor that presents with significant genetic differences to cutaneous melanoma and has a high genetic burden in terms of prognosis. (2) Methods: A systematic literature search of several repositories on uveal melanoma diagnosis, prognosis, molecular analysis, and treatment was conducted. (3) Results: Recent genetic understanding of oncogene-initiation mutations in GNAQ, GNA11, PLCB4, and CYSLTR2 and secondary progression drivers of BAP1 inactivation and SF3B1 and EIF1AX mutations offers an appealing explanation to the high prognostic impact of adding genetic profiling to clinical UM classification. Genetic information could help better explain peculiarities in uveal melanoma, such as the low long-term survival despite effective primary tumor treatment, the overwhelming propensity to metastasize to the liver, and possibly therapeutic behaviors. (4) Conclusions: Understanding of uveal melanoma has improved step-by-step from histopathology to clinical classification to more recent genetic understanding of oncogenic initiation and progression.

2.
Diagnostics (Basel) ; 13(11)2023 May 29.
Article in English | MEDLINE | ID: mdl-37296758

ABSTRACT

(1) Background: Uveal malignant melanoma is the most common adult eye cancer and presents metabolic reprogramming that affects the tumoral microenvironment by altering the redox balance and producing oncometabolites. (2) Methods: The study prospectively evaluated patients undergoing enucleation surgery or stereotactic radiotherapy for uveal melanoma by following systemic oxidative-stress redox markers serum lipid peroxides, total albumin groups and total antioxidant levels (3) Results: Serum antioxidants and lipid peroxides were elevated from pre-treatment to longer-term follow-up. Antioxidants inversely correlated to lipid peroxides: higher in stereotactic radiosurgery patients pre/6/12/18 months post-treatment (p = 0.001-0.049) versus higher lipid peroxides in enucleation surgery patients pre/after/6 months post-treatment (p = 0.004-0.010). An increased variance in serum antioxidants was observed for enucleation surgery patients (p < 0.001), however enucleation did not increase mean serum antioxidants or albumin thiols; only lipid peroxides were increased post-enucleation (p < 0.001) and at 6-month follow-up (p = 0.029). Mean albumin thiols were increased for 18- and 24-month follow-ups (p = 0.017-0.022). Males who had enucleation surgery presented higher variance in serum determinations and overall higher lipid peroxides values pre/post-treatment and at the 18-month follow-up. (4) Conclusions: Initial oxidative stress-inducing events of surgical enucleation or stereotactic radiotherapy for uveal melanoma are followed by a longer-term inflammatory cascade gradually subsiding at later follow-ups.

3.
Diagnostics (Basel) ; 12(6)2022 May 25.
Article in English | MEDLINE | ID: mdl-35741122

ABSTRACT

(1) Background: Ciliary body uveal melanoma is a rare subtype of uveal melanoma which comprises 3-5% of melanomas, an immunogenic cancer, and can present multifaceted initial clinical manifestations, masquerading as various ocular pathologies. Chronic lymphocytic leukemia (CLL) presents immunodeficiency and risk for the development of a secondary malignancy, with Bruton's tyrosine kinase inhibitor treatment having a mutagenic effect and a secondary anti-platelet aggregation effect. We present the case of a 65-year-old patient undergoing treatment for CLL with ibrutinib who presented with recurrent hyphema that masked an underlying, inferiorly situated, ciliary body uveal melanoma; (2) Methods: Retrospective case review; (3) Results: An ophthalmological examination together with imaging via mode B ultrasound and contrast-enhanced magnetic resonance imaging resulted in the clinical and imagistic diagnosis of a ciliary body uveal melanoma. A pathological examination of the enucleated eye confirmed the diagnosis. Postoperative tumoral reoccurrence was not detected for 1½ years, however, CLL immunosuppression worsened with admission for severe COVID-19 disease. (4) Conclusions: CLL patient screening for melanoma should also include detailed ophthalmological examinations, which could also include ultrasound ophthalmological imaging. The avoidance of uveal melanoma metastatic disease is paramount for patient survival. CLL manifests additional profound immunosuppression.

4.
Rom J Morphol Embryol ; 62(4): 991-1000, 2021.
Article in English | MEDLINE | ID: mdl-35673818

ABSTRACT

PURPOSE: Our retrospective study on 27 patients with a large mean macular hole diameter (MH-D) of 480.08±78.62 µm evaluates the usefulness of combining the current internal limiting membrane (ILM) inverted-flap surgical technique with silicone oil tamponade, which has been associated with the classical technique of ILM peeling. RESULTS: Functional results: mean visual acuity (VA) improved to 0.89±0.11 logMar (logarithm of the minimum angle of resolution, at one month), 0.67±0.03 logMar (at three months), 0.52±0.04 logMar (at six months), 0.42±0.15 logMar (at one year) postoperative (final VA), with statistical linkage between preoperative VA and final VA (two-sample t-test, p=0.007), mean MH-D and final VA (regression analysis, p=0.003). We compared the results by MH size (Group A ≤400 µm - eight eyes and Group B >400 µm - 19 eyes), finding statistical variance (Bonett & Levene methods). Group A presented a final VA of 0.21±0.12 logMar, while Group B had 0.51±0.17 logMar. Successful closure was noted in 25 (92.59%) cases, with Group A having complete closure and external limiting membrane (ELM) restoration with ellipsoid zone (EZ) regeneration in six cases. Group B had successful closure in 17 (89.47%) cases with ELM restoration in 16 cases and EZ regeneration in seven (38.88%) cases, with reintervention in two cases. Restoration of the ELM was correlated [Pearson's correlation coefficient (PCC) of 0.999, p=0.022] with successful closure, with overall restoration obtained in 24 (88.88%) cases and EZ regeneration in 13 (48.14%) cases. CONCLUSIONS: ILM inverted-flap technique with silicone oil tamponade had favorable functional and anatomical outcomes. ELM restoration was associated with successful MH closure.


Subject(s)
Retinal Perforations , Basement Membrane , Humans , Retinal Perforations/surgery , Retrospective Studies , Silicone Oils/therapeutic use , Tomography, Optical Coherence/methods , Vitrectomy/methods
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