Philippe Beauchemin1, Raffaele Iorio2, Anthony L Traboulsee3, Thalia Field3, Anna V Tinker4, Robert L Carruthers3. 1. Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, Canada; Département de Médecine, Division Neurologie, Université Laval, ville de Québec, Canada. Electronic address: philippe.beauchemin.1@ulaval.ca. 2. Institute of Neurology, Fondazione Policlinico Universitario 'A. Gemelli', Università Cattolica del Sacro Cuore, Rome, Italy. 3. Department of Medicine, Division of Neurology, University of British Columbia, Vancouver, Canada. 4. Department of Medicine, Division of Medical Oncology, University of British Columbia, Vancouver, Canada.
Abstract
BACKGROUND: Paraneoplastic syndromes are remote effects of cancer caused by an autoimmune response triggered by tumor cells. Paraneoplastic Neuromyelitis Optica Spectrum Disorders (NMOSD) has been previously described, but the underlying mechanism for these rare cases is not well characterized. This paper presents a newly described case series of paraneoplastic NMOSD, including 2 new histological types of cancer and histological validation. METHODS: The UBC NMO clinic database was surveyed and identified 6 patients with paraneoplastic NMOSD. In 2 cases, aquaporin-4 (AQP4) immunoreactivity was assessed on patients' tumor specimens. RESULTS: The mean age at NMOSD diagnosis was 56 years old and 5/6 patients were older than 50 years old. 4/6 patients with paraneoplastic NMOSD have positive AQP4 antibodies. The median time between NMOSD and cancer was 12 months. Two new cancer types- serous ovarian carcinoma and adrenocortical carcinoma - were found in paraneoplastic NMOSD cases. A serous ovarian carcinoma and a thymoma, found in patients with AQP4 serological evidence, showed a positive reactivity to AQP4 immunostaining. CONCLUSIONS: Our findings will increase the recognition of NMOSD as a paraneoplastic syndrome. Cancer cells can express AQP4, increasing the likelihood of a direct mechanism between cancer cells and the development of NMOSD in paraneoplastic cases.
BACKGROUND:Paraneoplastic syndromes are remote effects of cancer caused by an autoimmune response triggered by tumor cells. Paraneoplastic Neuromyelitis Optica Spectrum Disorders (NMOSD) has been previously described, but the underlying mechanism for these rare cases is not well characterized. This paper presents a newly described case series of paraneoplastic NMOSD, including 2 new histological types of cancer and histological validation. METHODS: The UBC NMO clinic database was surveyed and identified 6 patients with paraneoplastic NMOSD. In 2 cases, aquaporin-4 (AQP4) immunoreactivity was assessed on patients' tumor specimens. RESULTS: The mean age at NMOSD diagnosis was 56 years old and 5/6 patients were older than 50 years old. 4/6 patients with paraneoplastic NMOSD have positive AQP4 antibodies. The median time between NMOSD and cancer was 12 months. Two new cancer types- serous ovarian carcinoma and adrenocortical carcinoma - were found in paraneoplastic NMOSD cases. A serous ovarian carcinoma and a thymoma, found in patients with AQP4 serological evidence, showed a positive reactivity to AQP4 immunostaining. CONCLUSIONS: Our findings will increase the recognition of NMOSD as a paraneoplastic syndrome. Cancer cells can express AQP4, increasing the likelihood of a direct mechanism between cancer cells and the development of NMOSD in paraneoplastic cases.
Authors: Pilar Carrillo; Teresa Gorría; Daniel Santana; Maria Sepulveda; Iban Aldecoa; Blanca Gonzalez-Farré; Esther Sanfeliu; Eduard Mension; Isaac Cebrecos; Olga Martínez-Saez; Imma Alonso; Albert Saiz Journal: Biomed Hub Date: 2022-01-31