Background: Differentiating neoplastic and non-neoplastic uveal tumours can present a diagnostic challenge; intra-ocular biopsy may be necessary. The novel trans-scleral Essen Forceps biopsy (TSEB) technique can improve diagnostic yield compared to fine needle aspiration biopsy (FNAB). We present a case demonstrating the technique and its added value.
View Article and Find Full Text PDFPurpose: To explore the genetic background of choroidal and ciliary body melanoma among children and young adults, with special focus on BAP1 germline variants in this age group.
Methods: Patients under the age of 25 and with confirmed choroidal or ciliary body melanoma were included in this retrospective, multicenter observational study. Nuclear BAP1 immunopositivity was used to evaluate the presence of functional BAP1 in the tumor.
Introduction: Ruthenium-106 (Ru-106) brachytherapy is one of the commonest eye-sparing treatments for choroidal melanoma. These patients require long-term surveillance of the treated tumour remnant to ensure there is no local recurrence. New or progressive pigmented lesions in treated eyes are often regarded as suspicious - especially if there are concerns of extra-scleral extension.
View Article and Find Full Text PDFSeveral nomenclature and grading systems have been proposed for conjunctival melanocytic intraepithelial lesions (C-MIL). The fourth "WHO Classification of Eye Tumors" (WHO-EYE04) proposed a C-MIL classification, capturing the progression of noninvasive neoplastic melanocytes from low- to high-grade lesions, onto melanoma in situ (MIS), and then to invasive melanoma. This proposal was revised to the WHO-EYE05 C-MIL system, which simplified the high-grade C-MIL, whereby MIS was subsumed into high-grade C-MIL.
View Article and Find Full Text PDFThis study examined PRAME (preferentially expressed antigen in melanoma) expression by immunohistochemistry and reverse transcription quantitative PCR (RT-qPCR) in 202 histologically unequivocal conjunctival melanocytic lesions: 76 nevi, 29 benign melanoses, 25 low-grade conjunctival intraepithelial melanocytic lesions (LGCMIL), 26 high-grade conjunctival melanocytic intraepithelial lesions/in-situ melanoma (HGCMIL), and 46 invasive melanomas. PRAME score 0 was seen in 96% of nevi (73/76), 96% of benign melanoses (28/29), and 88% of LGCMIL (22/25). PRAME score 4 was seen in 50% HGCMIL (13/26) and 76% invasive melanomas (35/46).
View Article and Find Full Text PDFPurpose: To report the histopathological results of lacrimal gland biopsies over a 21-year period in a tertiary referral centre in the United Kingdom. To the best of our knowledge, this represents the largest series to be published in the United Kingdom.
Methods: A retrospective observational review was carried out for patients who underwent lacrimal gland biopsies in a tertiary referral centre at the University Hospitals of Leicester, United Kingdom between the years of 2000 and 2021.
Introduction: Despite advances in the understanding of the molecular pathogenesis of cutaneous melanoma, relatively little is known about the genetic changes that occur in the progression of conjunctival melanocytic intraepithelial lesions to invasive conjunctival melanoma.
Methods: We exposed 4 exenteration specimens that each contained varying grades of intraepithelial conjunctival melanocytic neoplasia and invasive neoplasia to a combination of various techniques, including array comparative genomic hybridization (aCGH), ribonucleic acid sequencing (RNA-seq), fluorescence in situ hybridization (FISH), and immunohistochemistry.
Results: Three out of 4 of the invasive melanomas showed gains in 11q13 (CCND1 locus) by aCGH.
Two patients, with non-small cell lung carcinoma treated with pembrolizumab, developed bilateral diffuse uveal melanocytic proliferation (BDUMP) with interesting histopathological features. The first patient developed a right ciliary body mass concurrently with BDUMP. The globe was enucleated.
View Article and Find Full Text PDFMatrix assisted laser desorption ionisation mass spectrometry imaging (MALDI-MSI), was used to obtain images of lipids and metabolite distribution in formalin fixed and embedded in paraffin (FFPE) whole eye sections containing primary uveal melanomas (UM). Using this technique, it was possible to obtain images of lysophosphatidylcholine (LPC) type lipid distribution that highlighted the tumour regions. Laser ablation inductively coupled plasma mass spectrometry images (LA-ICP-MS) performed on UM sections showed increases in copper within the tumour periphery and intratumoural zinc in tissue from patients with poor prognosis.
View Article and Find Full Text PDFPurpose: To evaluate PAX8 expression by immunohistochemistry in the normal pediatric and adult crystalline lens and to assess the usefulness of PAX8 immunohistochemical stain in the diagnosis of morphologically challenging lesions of lenticular origin.
Design: Retrospective, observational case series.
Participants: Fourteen congenital and acquired lens-derived lesions and 10 control crystalline lenses.
Purpose: To describe our experience in performing biopsy of post-septal orbital masses with core needle under computerized tomography guidance (CT-CNB).
Methods: The medical records of all patients who underwent this procedure were reviewed. The procedure was performed under local anesthesia on a day case basis under a peribulbar block.
A 34-year-old man presented with an 8-day history of swelling and ptosis affecting the right upper eyelid. An MRI scan showed right superior rectus enlargement. Histology of an incisional biopsy of the muscle demonstrated metastatic choriocarcinoma to the orbit, positive for pan-cytokeratins, beta-HCG and GATA3.
View Article and Find Full Text PDFRetin Cases Brief Rep
November 2022
Purpose: To describe a hitherto unreported late ocular surface complication of retinal detachment surgery around a radial segment explant.
Methods: A single case report of a 72-year-old white man, with a previous history of right scleral buckling surgery for retinal detachment surgery 25 years ago, presented with right-sided ptosis of 6 months duration.
Results: Ocular surface examination showed a prominent right supero-nasal quadrant radial segment explant, around which there was bulky pink conjunctival mass, extending from the supero-medial fornix down to the medial canthal area and inferior medial fornix with similar changes seen on the upper medial tarsal conjunctiva.
Introduction: Self-inflicted enucleation, also known as auto-enucleation (AE) or Oedipism, is an uncommon and severe form of ocular injury which presents as an ophthalmic and psychiatric emergency. Usually known to occur with untreated psychosis, this case is a rare report which demonstrates AE as a result of a subsequently diagnosed drug induced psychosis. We report the clinical presentation, management and for the first time a detailed speculative account about the mechanism of AE, based on our clinicopathologic findings.
View Article and Find Full Text PDFAm J Ophthalmol
March 2021
Purpose: We sought to compare the sensitivity, specificity, accuracy, and interobserver agreement of the two most commonly used classification systems for conjunctival melanocytic intraepithelial lesions with the new World Health Organization (WHO) classification.
Design: Retrospective case series and evaluation of classification systems.
Methods: We reviewed the pathology and medical records of all patients who underwent a primary biopsy procedure for conjunctival primary acquired melanosis (PAM) at Wills Eye Hospital between 1974 and 2002 who had ≥36 months of follow-up.
Intraocular cutaneous melanoma metastasis (ICMM) is a rare event, accounting for only 5% of all metastases to the eye and orbit. The vast majority of such metastases primarily affect the choroid and vitreoretinal structures. Only three previous cases of predominant lens structure ICMM have been reported in the literature.
View Article and Find Full Text PDFAn 84-year-old male presented with a history of a slowly growing lesion beneath the right lower lid. Examination showed a right-sided mass in the inferior bulbar conjunctiva, measuring approximately 10 × 6 mm. The lesion was excised and showed a giant cell-rich solitary fibrous tumour (GCR-SFT) with pseudo-vascular spaces with benign cytology, with STAT6, expressed in the spindle, ovoid, and tumour giant cells.
View Article and Find Full Text PDFA 69-year-old female presented with right vitreous cells and cystoid macular oedema (CMO). One year previously, she had received two cycles of attenuated methotrexate-based chemotherapy for primary central nervous system (CNS) lymphoma, abandoned due to toxicity. There was no past ocular history of note aside from mild cataract.
View Article and Find Full Text PDFAn elderly white man with a history of left oculodermal melanocytosis presented with new onset brown pigmentation of the left bulbar and inferior tarsal conjunctiva. The bulbar conjunctival pigmentation was at the level of the conjunctival epithelium and was overlying areas of typical slate-grey scleral pigmentation characteristic of oculodermal melanocytosis. Both areas of new pigmentation were biopsied.
View Article and Find Full Text PDFPurpose: To evaluate the distribution of the PAX8 transcription factor protein in ocular tissues and to investigate if immunohistochemical stains for this biomarker are useful in the diagnosis of intraocular tumors.
Design: Observational case series.
Participants: Excision and cytologic analysis specimens of 6 ciliary body epithelial neoplasms, 2 iris epithelial neoplasms, 3 retinal pigment epithelial neoplasms, 3 intraocular medulloepitheliomas, 15 uveal melanomas, and 5 uveal melanocytomas.
Objective: Trichilemmoma is a benign tumour derived from the outer root sheath of hair follicles. Trichilemmoma can be associated with basal cell carcinoma (BCC), either as a collision lesion or from malignant transformation. This study evaluates malignancy associated with eyelid trichilemmoma and principles of treatment.
View Article and Find Full Text PDFAim: To describe the clinical, histological, and immunohistochemical (IHC) features of a series of 10 cases of ocular surface fibroma (OSF) and correlate the findings with other similar histological entities.
Method: The patient demographics and features of the lesions were analysed from the clinical notes. All cases in the series had routine diagnostic excisional biopsies with standard histopathological and IHC evaluation.