Rachel Lukschal Frauches

All Publications

• Uveal Melanocytoma without GNAQ/GNA11 Mutations. Ocular oncology and pathology Kazmer, S. T., Frauches, R., Galang, C., Bishay, M., Minckler, D. S., Mruthyunjaya, P., Lin, J. H. 2025; 11 (4): 260-266

  Abstract

  Uveal melanocytomas are benign melanocytic proliferations characterized histologically by large polyhedral cells, abundant intracytoplasmic melanin, small centrally located nuclei, and low nuclear-to-cytoplasmic ratios (N:C). Activating missense changes of the G-protein subunits, GNAQ/GNA11, drive uveal melanocytic proliferation and are characteristic molecular mutations found in intraocular nevi including melanocytomas, as well as malignant uveal melanomas. Sequencing of uveal melanocytic proliferations from biopsies or enucleations identifies these mutations and complements traditional histochemical approaches to classify and diagnose the uveal melanocytic neoplasm as well as offering valuable clinical prognoses about patient outcomes.A 56-year-old female presented with gradual, painless vision loss in the left eye. On exam, a large (11.1 × 12.8 × 10.6 mm by ocular ultrasound), hyperpigmented ciliochoroidal mass was found in the superior nasal quadrant abutting the lens. The patient elected for enucleation given the tumor's large size and vision loss in the affected eye. An fine needle aspiration (FNA) biopsy of the fresh mass, collected immediately after enucleation, revealed no mutations in the 7-gene DecisionDX-UMSeq panel. Histologic and immunohistochemical evaluation of pupil-optic nerve cross-sections from the formalin fixed paraffin embedded enucleation revealed a ciliary body melanocytoma. DNA extracted from the melanocytoma enucleation cross-sections was sequenced for 197-clinically actionable tumor genes through the Stanford's Actionable Mutation Panel for Solid Tumors (STAMP). The sequencing results confirmed no mutations in GNAQ, GNA11, and the other uveal melanoma genes tested via the DecisionDX-UMSeq panel but identified missense variants of unknown significance in three genes previously not reported in uveal melanocytic neoplasms.To our knowledge, this is the first reported uveal melanocytoma lacking GNAQ/GNA11 oncogenic variants or other known uveal melanocytic neoplasm driver mutations. This case supports that there are additional to-be-identified molecular pathways and genes that drive uveal melanocyte proliferations.

  View details for DOI 10.1159/000549105

  View details for PubMedID 41403972

  View details for PubMedCentralID PMC12705124

• Uveal Melanocytoma without GNAQ/GNA11 Mutations OCULAR ONCOLOGY AND PATHOLOGY Kazmer, S. T., Frauches, R., Galang, C., Bishay, M., Minckler, D. S., Mruthyunjaya, P., Lin, J. H. 2025

  View details for DOI 10.1159/000549105

  View details for Web of Science ID 001618852200001

• A Unique Case of Pediatric Orbital Nodular Fasciitis with a Confirmed USP6 Fusion Mutation. Ophthalmic plastic and reconstructive surgery Frauches, R. L., Roozdar, P., Lin, J. H., Homer, N. A. 2025

  Abstract

  Nodular fasciitis is a benign, pseudoneoplastic condition often misdiagnosed as sarcoma due to its rapid growth, high cellularity, and mitotic activity. Herein is reported a case of a 7-year-old patient with a painless, enlarging nodule in the left superolateral orbit. Ultrasound revealed a 7.5 mm cystic mass, which was excised via an upper eyelid crease anterior orbitotomy. Histopathologic studies showed benign spindle cells, and molecular testing identified a UBC::USP6 fusion, confirming the diagnosis of nodular fasciitis. Nodular fasciitis is most common in the limbs, trunk, and head or neck region, with fewer than 1% of cases occurring in the orbit. Molecular testing is critical in differentiating this condition from malignancies. Complete surgical excision is the preferred treatment, with a low recurrence rate of 1% to 2%. This is the first reported pediatric case of orbital nodular fasciitis with a UBC::USP6 fusion mutation.

  View details for DOI 10.1097/IOP.0000000000002981

  View details for PubMedID 40607589

• Pathophysiology of intraoperative floppy iris syndrome: An unsettled debate. Survey of ophthalmology Shen, Y., Frauches, R., Zhao, J., Lo, C. H., Ning, K., Chen, S., Liu, Z., Zhang, F., Sun, Y. 2025

  Abstract

  Intraoperative floppy iris syndrome (IFIS)--characterized by iris blowing, prolapse, and progressive miosis during phacoemulsification surgery--poses significant challenges for eye surgeons. Despite being described almost 2 decades ago, its pathophysiology remains unclear. Initially, IFIS was thought to be a result of sympathetic signal blockage in the iris dilator muscle, since α-blockers such as tamsulosin were found to be a strong predisposing factor; however, many IFIS cases occur even in patients who discontinued α-blockers prior to cataract surgery. Several potential mechanisms through which α-blockers induces chronic changes in the iris - iris dilator atrophy, drug-melanin interaction, and loss of vascular tone - have been proposed as possible mechanisms. We address the prevailing theories on α-receptor-dependent mechanisms for IFIS and the current prophylactic measures undertaken to prevent IFIS-associated intraocular complications.

  View details for DOI 10.1016/j.survophthal.2025.06.002

  View details for PubMedID 40472999

• Machine Learning Detection, Classification, and Quantification of Rosettes for Retinoblastoma Tumor Grading and Clinical Prognosis Mitsios, A., Nirschl, J., Frauches, R., Zuraski, C., Lin, J. ASSOC RESEARCH VISION OPHTHALMOLOGY INC. 2025

  View details for Web of Science ID 001560059200045

• Conjunctival blue nevus in a child - Case report and review of literature. American journal of ophthalmology case reports Yahya, Y., Nangia, P., Ahmad, H., Frauches, R. L., Lin, J. H., Mruthyunjaya, P. 2024; 36: 102151

  Abstract

  To report a rare case of a conjunctival blue nevus in a child.A 10-year-old girl underwent an excisional biopsy for an atypical growing melanocytic conjunctival lesion. The diagnosis of a conjunctival blue nevus was confirmed on histopathology. We describe the histopathology and the anterior segment optical coherence tomography features of a blue nevus in a 10-year-old child along with a review of literature.Conjunctival blue nevus is rare and has rarely been reported in a child. Multimodal imaging may help document lesion progression. This condition should remain in the differential for a growing, pigmented conjunctival lesion.

  View details for DOI 10.1016/j.ajoc.2024.102151

  View details for PubMedID 39282597

  View details for PubMedCentralID PMC11396036

• Ocular Surface Fibroma of the Bulbar Conjunctiva. Ophthalmology Frauches, R., Lin, J. 2024

  View details for DOI 10.1016/j.ophtha.2024.05.008

  View details for PubMedID 38958614

• Comparison of clinical slit lamp exam and specular microscopy vs histology on diagnosis of guttae Frauches, R., Lin, C., Egbert, P. R., Minckler, D., Lin, J. ASSOC RESEARCH VISION OPHTHALMOLOGY INC. 2024

  View details for Web of Science ID 001312227705321

• Clinicopathologic Characterization of Guttae Containing and Non-Guttae Fuchs' Endothelial Dystrophy Frauches, R., Bharani, K., Egbert, P., Minckler, D., Lin, J. ELSEVIER SCIENCE INC. 2024: S1745

  View details for Web of Science ID 001302363406090