What you see isn't always what you get: a case of neurosarcoid masquerading as metastatic breast cancer

SESSION TITLE: The Path to the Final Diagnosis SESSION TYPE: Rapid Fire Case Reports PRESENTED ON: 10/11/2023 09:40 am - 10:25 am INTRODUCTION: Sarcoidosis is an immune-mediated, multisystemic, granulomatous disease. Neurosarcoidosis is a rare subset of the disease which affects an estimated 3-10% of patients with sarcoidosis. We present a patient who was initially thought to have metastatic disease to the brain, but was found to have neurosarcoid, and who showed a good response to steroid treatment. CASE PRESENTATION: A 69 year old female with a past medical history of ductal cell carcinoma in situ (DCIS) of the left breast (diagnosed 1 year prior and completed radiation therapy) presented with blurry vision. Ophthalmologic examination revealed optic neuropathy, and brain MRI revealed several enhancing lesions in the frontal area adjacent to the left optic nerve, raising suspicion for metastatic disease. CT of the chest, abdomen and pelvis, revealed a 1 cm right upper lobe nodule. A PET scan revealed multiple hypermetabolic pulmonary nodules in both upper lobes as well as hypermetabolic lymphadenopathy in the thoracic cavity, abdominal cavity, and right axilla. Given the patient's oncologic history, there was concern for metastatic breast cancer, and the patient underwent a lung nodule biopsy. Pathology revealed non-necrotizing granulomatous inflammation without evidence of malignancy. Tuberculosis and other granulomatous infections were ruled out both by transthoracic needle aspiration and by subsequent bronchoscopic and EBUS-guided evaluation. Based on the finding of granulomatous inflammation with no evidence of an infecting organism, suspicion for sarcoidosis was high, and she was started on high-dose steroids. Repeat imaging after 3 months showed near resolution of the brain lesions and adenopathy previously seen. She also reported improvement in vision. DISCUSSION: Although visual symptoms do occur 20-30% of the time as an initial symptom of sarcoidosis, they are not usually due to ocular nerve involvement. Neurosarcoid occurs when sarcoidosis involves the central or peripheral nervous system and can present with nonspecific symptoms, but most commonly as cranial neuropathy affecting the optic or facial nerve. Per the 2018 Neurosarcoidosis Consortium Consensus, the results of our evaluation met criteria for probable neurosarcoidosis, however, the presence of multiple discrete nodular lesions in the context of a history of breast ductal carcinoma in situ initially suggested metastatic disease as a primary consideration and illustrates how sarcoidosis can mimic other disease processes. The treatment of choice in the acute phase is high-dose systemic corticosteroids, to which she responded well. CONCLUSIONS: This case illustrates how sarcoidosis can mimic other disease processes, including metastatic cancer. A methodical approach to diagnosis includes biopsy of an accessible lesion in addition to appropriate laboratory and radiological evaluation to exclude other possible diagnoses. REFERENCE #1: Ungprasert P, Ryu JH, Matteson EL. Clinical Manifestations, Diagnosis, and Treatment of Sarcoidosis. Mayo Clin Proc Innov Qual Outcomes. 2019 Aug 2;3(3):358-375. doi: 10.1016/j.mayocpiqo.2019.04.006. PMID: 31485575; PMCID: PMC6713839. REFERENCE #2: Stern BJ, Royal W 3rd, Gelfand JM, Clifford DB, Tavee J, Pawate S, Berger JR, Aksamit AJ, Krumholz A, Pardo CA, Moller DR, Judson MA, Drent M, Baughman RP. Definition and Consensus Diagnostic Criteria for Neurosarcoidosis: From the Neurosarcoidosis Consortium Consensus Group. JAMA Neurol. 2018 Dec 1;75(12):1546-1553. doi: 10.1001/jamaneurol.2018.2295. PMID: 30167654. REFERENCE #3: Pasadhika S, Rosenbaum JT. Ocular Sarcoidosis. Clin Chest Med. 2015 Dec;36(4):669-83. doi: 10.1016/j.ccm.2015.08.009. PMID: 26593141; PMCID: PMC4662043. DISCLOSURES: No relevant relationships by Jonathan Ariyaratnam No relevant relationships by Muhammad Haseeb-ul-Rasool No relevant relationships by Jasmine Sandhu No relevant relationships by Dimple Shah No relevant relationships by Larry Sonna No relevant relationships by Zaryab Umar