Tatyana Milman1, Diva R Salomao2, Cristiane M Ida2, Daniel R Capiz Correa3, Hans E Grossniklaus4, Qiang Zhang5, Rose A Hamershock5, Carol Shields6, Jerry A Shields6, Irving Raber7, Christopher J Rapuano7, Ravi Patel7, Ralph C Eagle8. 1. Department of Ophthalmology, Thomas Jefferson University, Philadelphia, PA, USA; Department of Pathology, Wills Eye Hospital, Philadelphia, PA, USA. Electronic address: tmilman@willseye.org. 2. Department of Laboratory Medicine and Pathology, Mayo Clinic, Mayo Clinic College of Medicine and Science, Rochester, MN, USA. 3. Orbit and Oculoplastics Department, Hospital de la Luz, Mexico City, Mexico. 4. Department of Ophthalmology, Ocular Oncology and Pathology Section, Emory Eye Center, Emory University School of Medicine, Atlanta, GA, USA. 5. Department of Ophthalmology, Thomas Jefferson University, Philadelphia, PA, USA; Biostatistics Consulting Core, Vickie and Jack Farber Vision Research Center, Wills Eye Hospital, Philadelphia, PA, USA. 6. Department of Ophthalmology, Thomas Jefferson University, Philadelphia, PA, USA; Ocular Oncology Service, Wills Eye Hospital, Philadelphia, PA, USA. 7. Department of Ophthalmology, Thomas Jefferson University, Philadelphia, PA, USA; Cornea Service, Wills Eye Hospital, Philadelphia, PA, USA. 8. Department of Ophthalmology, Thomas Jefferson University, Philadelphia, PA, USA; Department of Pathology, Wills Eye Hospital, Philadelphia, PA, USA.
Abstract
PURPOSE: To evaluate the clinical and pathologic characteristics of conjunctival myxoid lesions, with specific focus on PRKAR1A studies, in order to distinguish neoplastic conjunctival myxoma from other myxoid conjunctival lesions. METHODS: A retrospective, interventional, multicenter study of all patients with conjunctival myxoma, conjunctival stromal tumor, or reactive fibromyxoid proliferation diagnosed during 1988-2018. Patient and family medical histories and clinical and pathologic characteristics of excised lesions were assessed. RESULTS: There were 28 patients with conjunctival myxoid lesions diagnosed as myxoma (16/28), conjunctival stromal tumor (10/28), or reactive fibromyxoid proliferation (2/28). The patients with abundant myxoid matrix lesions (14/28, 50%) were younger (mean 49 [range 23-68] years) than those with scant-to-moderate myxoid matrix lesions (14/28, mean 61 [range 18-82] years; P = .04). Abundant myxoid matrix lesions more likely contained predominantly stellate cells (6/14 [43%] vs 0/14 [0%]; P = .05) and fibrillar collagen (13/14 [93%] vs 2/14 [14%]; P < .0001), conforming to the standard morphologic definition of myxoma. Absence of PRKAR1A protein expression was found in 2 lesions with morphologic features of myxoma (2/14, 14%), 1 of which demonstrated a pathogenic mutation in the PRKAR1A gene. There was no difference between the lesions with respect to other clinical and pathologic parameters. CONCLUSIONS: PRKAR1A plays a role in the development of a subset of conjunctival myxomas, particularly in tumors fulfilling stringent morphologic criteria for myxoma. With the exception of PRKAR1A studies, current immunohistochemical panels cannot reliably distinguish between neoplastic conjunctival myxomas and other myxoid lesions, underscoring the importance of morphology in establishing accurate diagnosis.
PURPOSE: To evaluate the clinical and pathologic characteristics of conjunctival myxoid lesions, with specific focus on PRKAR1A studies, in order to distinguish neoplastic conjunctival myxoma from other myxoid conjunctival lesions. METHODS: A retrospective, interventional, multicenter study of all patients with conjunctival myxoma, conjunctival stromal tumor, or reactive fibromyxoid proliferation diagnosed during 1988-2018. Patient and family medical histories and clinical and pathologic characteristics of excised lesions were assessed. RESULTS: There were 28 patients with conjunctival myxoid lesions diagnosed as myxoma (16/28), conjunctival stromal tumor (10/28), or reactive fibromyxoid proliferation (2/28). The patients with abundant myxoid matrix lesions (14/28, 50%) were younger (mean 49 [range 23-68] years) than those with scant-to-moderate myxoid matrix lesions (14/28, mean 61 [range 18-82] years; P = .04). Abundant myxoid matrix lesions more likely contained predominantly stellate cells (6/14 [43%] vs 0/14 [0%]; P = .05) and fibrillar collagen (13/14 [93%] vs 2/14 [14%]; P < .0001), conforming to the standard morphologic definition of myxoma. Absence of PRKAR1A protein expression was found in 2 lesions with morphologic features of myxoma (2/14, 14%), 1 of which demonstrated a pathogenic mutation in the PRKAR1A gene. There was no difference between the lesions with respect to other clinical and pathologic parameters. CONCLUSIONS:PRKAR1A plays a role in the development of a subset of conjunctival myxomas, particularly in tumors fulfilling stringent morphologic criteria for myxoma. With the exception of PRKAR1A studies, current immunohistochemical panels cannot reliably distinguish between neoplastic conjunctival myxomas and other myxoid lesions, underscoring the importance of morphology in establishing accurate diagnosis.