Early detection for pancreatic cancer in individuals at elevated-risk, using endoscopic ultrasound (EUS) and magnetic resonance imaging (MRI) of the abdomen: Feasibility and preliminary outcomes.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e16798-e16798
Author(s):  
Joshua P. Raff ◽  
Charles Noyer ◽  
Nicole Boxer ◽  
Sara Sadan ◽  
Dan Costin ◽  
...  

e16798 Background: There are no accepted guidelines for testing individuals at elevated risk for developing pancreatic duct adenocarcinoma (PC). We initiated a prospective screening and surveillance program for individuals at elevated risk for PC. Methods: Eligibility for the Pancreatic Cancer Early Detection Protocol (PCEDP) was based on germ line status and/or family history of PC, provided that the imparted risk was either five times that of the general population or 7.5% lifetime risk for developing PC. Testing was continued alternating between Endoscopic Ultrasound (EUS) and Magnetic Resonance Imaging (MRI) of the abdomen. Objectives were was to analyze the number, type, and location of pancreatic conditions found and their associations with genetic or family history; and to evaluate the outcomes and/or complications that may have resulted from our testing. Results: From April 2014 through October 2019 we received 238 queries, out of which 75 individuals (31%) enrolled in the PCEDP. Eligibility was based upon individual’s germ line only (45%), family history only (32%), and both (23%). Germ line mutations were observed in 34 (BRCA2), 9 (BRCA1), 4 (ATM), 3 (PALB2), and 3 (CDKN2A) individuals. Median age at consent was 57, 60% were female,and88%, 4%, 3%, and 1% self-identified as Caucasian, African American, Hispanic, and Asian, respectively. 133 EUS procedures and 83 MRIs have been performed. No serious adverse events occurred. Standard Insurance approved and paid for the vast majority of tests. Four individuals withdrew (5%) and three (4%) were lost to follow up. Ten individuals (13%) were found to have abnormal findings in the pancreas and therefore met an endpoint of the study, including seven anechoic cysts and three suspected intraductal papillary mucinous neoplasms (IPMN). All individuals with endpoints were recommended to continue surveillance with EUS. Eight of the ten endpoints were found on baseline EUS, one one from baseline MRI, and one was found on the 3rd EUS. One of the individuals with a 2.5cm IPMN seen on baseline EUS underwent a subsequent distal pancreatectomy, with pathology revealing high grade dysplasia. Conclusions: Screening and surveillance for PC using EUS alternating with MRI was feasible and well tolerated in our population of individuals with an elevated risk. Baseline EUS was successful in detecting 10/75 = 13% of enrollees with some abnormal pancreatic finding, including one requiring intervention with a high grade pre-malignant IPMN.

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
David Fear ◽  
Misha Patel ◽  
Ramin Zand

Abstract Background Hemiplegic migraines represent a heterogeneous disorder with various presentations. Hemiplegic migraines are classified as sporadic or familial based on the presence of family history, but both subtypes have an underlying genetic etiology. Mutations in the ATP1A2 gene are responsible for Familial Hemiplegic type 2 (FHM2) or the sporadic hemiplegic migraine (SHM) counterpart if there is no family history of the disorder. Manifestations include migraine with aura and hemiparesis along with a variety of other symptoms likely dependent upon the specific mutation(s) present. Case presentation We report the case of an adult man who presented with headache, aphasia, and right-sided weakness. Workup for stroke and various infectious agents was unremarkable during the patient’s extended hospital stay. We emphasize the changes in the Magnetic Resonance Imaging (MRI) over time and the delay from onset of symptoms to MRI changes in Isotropic Diffusion Map (commonly referred to as Diffusion Weighted Imaging (DWI)) as well as Apparent Diffusion Coefficient (ADC). Conclusions We provide a brief review of imaging findings correlated with signs/symptoms and specific mutations in the ATP1A2 gene reported in the literature. Description of the various mutations and consequential presentations may assist neurologists in identifying cases of Hemiplegic Migraine, which may include transient changes in ADC and DWI imaging throughout the course of an attack.


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