Transscleral Biopsy Research Articles

Novel Guarded Needle Trans-Scleral Biopsy for Uveal Melanoma: A Pilot Study

Introduction: Trans-scleral biopsy of uveal melanoma (UM) poses an inherent risk of tumor and possibly retinal perforation. We describe a novel technique for trans-scleral biopsy of UM and evaluate its safety and efficacy in an initial cohort of patients. Methods: A retrospective, consecutive observational case series was conducted from October 14, 2019, to April 15, 2020, at Kaiser Permanente, San Francisco, CA among patients with UM of the ciliary body or anterior choroid undergoing trans-scleral fine-needle aspiration biopsy using a novel guarded needle technique. Results: A total of 6 patients were included in the study, with a mean age of 64.3 (range 35–77) years (5 women 83%). Mean (±SD) tumor thickness and maximal basal diameter were 6.4 (±2.66) and 11.9 (±2.13) mm, respectively. Five out of 6 patients achieved a successful biopsy with reliable gene expression profiling (GEP) results. The only failure to obtain specimen occurred in the first attempted patient and, after a minor technique modification, all subsequent biopsies were successful. No intraoperative or short-term postoperative complications were observed in any patient. Conclusion: This novel trans-scleral biopsy technique appears to be safe and effective when obtaining UM tissue for GEP. This method may provide a more controlled biopsy depth thereby minimizing the risk of tumor perforation and its associated complications while still obtaining adequate biopsy yield.

Surgical Technique, Indications, and Outcomes of BIOM-Assisted Transvitreal Biopsy for Uveal Melanoma.

Controversy exists regarding the best method for biopsy of uveal melanoma. We describe our transvitreal technique and evaluate the safety of this technique as well as the efficacy for obtaining sample for prognostic genetic profiling. Description of surgical technique and retrospective case series. Medical records for uveal melanoma patients who underwent transvitreal biopsy using our described technique were analyzed for tumor size, location, primary treatment, method of biopsy, and any complications thereof. Characteristics of tumors that underwent transvitreal biopsy were noted including tumor size, location, or presence of subretinal fluid, to see whether these affected surgeon preference for biopsy modality. A cohort of contemporaneous uveal melanoma patients who underwent biopsy through a transscleral technique served as a comparator group for these patient, tumor, and complication factors. A total of 27 patients aged 27.2 to 88.6 years (mean 64.8) underwent transvitreal biopsy using our described technique between 2013 and 2016. There were 15 small, 10 medium, and 2 large tumors at diagnosis with the majority (n = 17) posterior to the equator. Intraoperative complications included a clot or small trickle of blood at the biopsy site in 20 (74.1%) of patients, small localized subretinal hemorrhage in 8 (29.6%), small vitreous hemorrhage in 4 (14.8%), and small transient choroidal detachments in 1 patient (3.6%). When subretinal hemorrhage occurred, it was almost always into a pre-existing pocket of subretinal fluid ( P = 0.0093). However, the presence of subretinal fluid was not associated with the decision to proceed with any biopsy ( P = 0.36) or transvitreal biopsy specifically ( P = 1.00). By 3 months, subretinal and/or vitreous hemorrhage resolved in essentially all cases. There were no cases of iatrogenic retinal detachment or extraocular tumor spread over a mean follow-up of 41.7 (range: 20-62.1) months. Adequate tissue for gene expression profiling was obtained from each biopsy. The comparator group of patients undergoing transscleral biopsy including 21 uveal melanomas in 20 patients (one eye had two melanomas). Transvitreal biopsies were more common in patients with small (n = 15; P < 0.0001), posterior (n = 17; P < 0.0001) tumors, compared with patients who underwent transscleral biopsy during the same period. This technique can be used for small or posterior tumors or for small anterior tumors where a transscleral approach would risk tumor perforation. Complications were minor, transient, and self-limited. Biopsy yields for molecular prognosis were adequate in all cases. The presence of subretinal fluid may be considered a relative contraindication because it may lead to subretinal hemorrhage in the fluid pocket but did not dissuade us from using this transvitreal technique for patients who would benefit from it.

Fine-Needle Aspiration Biopsy for Molecular Genomic Classification: Evaluation of Transscleral vs Transvitreal Biopsy

Purpose: To evaluate the transvitreal and transscleral fine-needle aspiration biopsy (FNAB) approach for molecular classification with gene-expression profiling (GEP) of uveal melanoma. Methods: Institutional review board–approved single-surgeon retrospective analysis of a consecutive case series of all patients undergoing FNAB using a 25-gauge-needle multipass approach for GEP analysis of uveal melanoma between 2012 and 2016. All FNAB specimens were processed for uveal melanoma diagnostic testing using a standard processing approach, and all testing was completed at a single laboratory (Castle Biosciences, Inc.). Results: Three hundred fifty-three eyes (353 patients) were included. Transvitreal biopsies were performed in 216 eyes (216/353, 61.2%), whereas transscleral biopsies were performed in 137 eyes (137/353, 38.8%). Twenty biopsies exhibited multiple gene failure (20/353, 5.6%). Excessive fluid biopsy volume was the primary association with reported multiple gene failure, occurring in 10 of 20 eyes (50%). FNAB performed via the transvitreal approach was significantly more likely to have an excessive volume report compared with transscleral biopsy (18/216, 8.3% vs 1/137, 0.7%; P &lt; .001). Conclusions: FNAB performed via a transscleral or transvitreal multipass approach utilizing a 25-gauge needle achieves molecular classification in 95% of all patients undergoing treatment for presumed uveal melanoma independent of tumor size. Complications related to FNAB using these techniques are rare and may be associated with the presentation of the uveal melanoma.

Comparison of uveal melanoma cytopathologic sample retrieval in trans-scleral versus vitrectomy-assisted transvitreal fine needle aspiration biopsy

Background/aimsFine needle aspiration biopsy has become a standard technique to obtain material from primary uveal melanoma for diagnosis, prognostication and research. Cytopathology requires a significantly greater tissue yield for a...

Choroidal melanoma masquerading as panuveitis in a patient with multiple myeloma.

Choroidal melanoma can sometimes present with associated anterior uveitis or panuveitis that can mask the underlying intraocular neoplasm and confound the diagnosis. Retrospective chart review. A 58-year-old woman presented with recurrent episodes of hypopyon, severe panuveitis, and a choroidal mass lesion in the right eye. Extensive systemic workup led to a diagnosis of multiple myeloma. Despite successful treatment of myeloma, the choroidal mass persisted and increased in size. Transscleral biopsy of the mass lesion revealed primary malignant choroidal melanoma. This case demonstrates that choroidal melanoma can present as masquerade syndrome with significant intraocular inflammation. Such cases pose a significant diagnostic dilemma to the clinician. Transscleral choroidal biopsy can provide critical information that is essential to establishing a definitive diagnosis and treatment plan.

Small Choroidal Melanoma with Chromosome 3 Monosomy on Fine-Needle Aspiration Biopsy

To evaluate the presence of chromosome 3 monosomy in small choroidal melanoma using fine-needle aspiration biopsy (FNAB). Noncomparative case series. Fifty-six patients with small choroidal melanoma measuring 3 mm or less in thickness who were undergoing plaque radiotherapy. Fine-needle aspiration biopsy was used at the time of plaque radiotherapy to sample tumor cells using a 27-gauge long needle via an indirect transvitreal approach into the tumor apex for postequatorial tumors or a 30-gauge short needle via a direct transscleral approach into the tumor base for preequatorial tumors. Chromosome 3 monosomy in small choroidal melanoma. The median tumor thickness was 2.6 mm. Monosomy 3 was found in 15 (27%) cases and disomy 3 was found in 32 (57%) cases. In 9 (16%) cases, genomic DNA yield was insufficient for genetic analysis. Fine-needle aspiration biopsy with a 27-gauge needle transvitreal approach provided quantity sufficient for genetic testing in 31 (97%) of 32 cases versus 16 (67%) of 24 cases sampled with a 30-gauge transscleral technique. Compared with disomy 3 tumors, monosomy 3 tumors were statistically more likely to occur in older patients (P = 0.040). Monosomy 3 (versus disomy 3) tumors showed thickness of more than 2 mm in 100% (vs. 84%), subretinal fluid in 87% (vs. 94%), symptoms in 40% (vs. 56%), orange pigment in 93% (vs. 81%), and margin of 3 mm or less to the optic disc in 20% (vs. 50%). There was no statistical difference between monosomy 3 and disomy 3 tumors in the presence or number of these clinical factors. However, small choroidal melanomas with monosomy 3 mutation were more likely to have had documented growth (63%) compared with those with disomy 3 (25%; P = 0.025; odds ratio, 5.00). Using FNAB at the time of plaque radiotherapy, monosomy 3 was found in approximately 27% of small choroidal melanomas, more often in older patients and tumors with documented growth. Transvitreal biopsy into the tumor apex provided better yield compared with transscleral biopsy into the tumor base.

Presymptomatic diagnosis of bronchogenic carcinoma associated with bilateral diffuse uveal melanocytic proliferation

A 62-year-old man presented with bilateral diffuse uveal melanocytic proliferations (BDUMP) and painful flexor contractures of the fingers of both hands. All these features were considered paraneoplastic but extensive and repeated investigations revealed no underlying malignancy. Oral steroids and orbital radiotherapy were ineffective. The diagnosis was confirmed by trans-scleral biopsy of the right choroid. Rapidly progressive cataracts were treated by phacoemulsification. Severe exudative retinal detachment with rubeosis and neovascular glaucoma in the left eye were treated successfully by partial choroidectomy. Fifteen months after presentation, investigations detected a 22 mm, poorly differentiated adenocarcinoma, which was resected without complication. The ocular tumours in both eyes regressed, without improvement in vision of Light Perception, and the palmar fasciitis also improved. The patient remained free of tumour recurrence until sudden death from myocardial infarction five years after he first presented.

Biopsy in indeterminate intraocular tumors

Objective To describe an intraocular biopsy technique that allows accurate histopathologic diagnosis in cases of clinically unclassifiable uveal tumors. Design Retrospective noncomparative consecutive interventional case series. Participants/methods Intraocular biopsies were performed by a vitreous cutter either by a two-port clear cornea approach in 11 patients with unclassifiable iris tumors or by a three-port pars plana vitrectomy in 23 patients with unclassifiable choroidal tumors. Specimens were formalin fixed and paraffin processed. Hematoxylin-eosin and periodic acid-Schiff stains were performed in all cases, with additional immunohistochemical stains using the alkaline phosphatase, antialkaline phosphatase method in cases that could not be conventionally classified. Main outcome measures Clinical observation and histopathologic examination of intraocular biopsies. Results In 97% of cases (n = 33) a definite diagnosis could be established by the biopsy specimen. A melanoma could be diagnosed in 73% of cases (n = 8) of iris tumors and in 57% of cases (n = 13) of posterior intraocular tumors. Other diagnoses included nevus, metastasis, vasoproliferative tumor, hemorrhage, gliosis, and scleritis. Complications were encountered in four cases: a vitreous hemorrhage occurred twice, an inconclusive biopsy result, and an intraocular tumor spread occurred once, respectively. No increased tumor-related mortality was observed after a mean follow-up of 44 months. Conclusions Intraocular biopsy by a vitreous cutter allows the histopathologic examination of formalin-fixed paraffin-embedded tumor tissue. This increases the diagnostic accuracy, avoiding the risk of extraocular tumor spread seen with transscleral biopsy techniques.