Alex J Liu1, Thorvardur R Halfdanarson2, Mohamad B Sonbol3. 1. From the Department of Internal Medicine, Mayo Clinic, Phoenix, AZ. 2. Division of Medical Oncology, Mayo Clinic, Rochester, MN. 3. Department of Internal Medicine/Division of Medical Oncology, Mayo Clinic, Phoenix, AZ.
Abstract
OBJECTIVES: Currarino syndrome (CS) is a congenital disorder that consists of a triad of anomalies: presacral mass, sacral dysgenesis, and anorectal malformations. Few cases of CS with neuroendocrine tumors (NETs) have been reported. In this study, we sought to determine the prevalence and characteristics of NET in patients with CS. METHODS: Mayo Clinic electronic medical records were searched for patients with CS. Data on demographics, CS diagnosis, family history, genetic testing, and NET diagnosis were extracted. RESULTS: A total of 26 patients with CS were identified with 3 (11.5%) of them having an additional diagnosis of NET. Three patients had a family history of NET (11.53%), and 7 patients had a family history of CS (26.9%). Of the 3 NET/CS patients, 2 had a confirmed primary NET from the presacral mass, with the third patient demonstrating focal uptake on the somatostatin receptor imaging within the presacral. Two patients received octreotide, followed by peptide receptor radionuclide therapy. The other patient was not treated because of complete resection of presacral mass and is currently undergoing surveillance scans. CONCLUSIONS: In our patients with CS, the prevalence of NET is 11.53%. The coexistence of 2 rare conditions, CS and presacral NET, suggests that there may be an etiological connection.
OBJECTIVES: Currarino syndrome (CS) is a congenital disorder that consists of a triad of anomalies: presacral mass, sacral dysgenesis, and anorectal malformations. Few cases of CS with neuroendocrine tumors (NETs) have been reported. In this study, we sought to determine the prevalence and characteristics of NET in patients with CS. METHODS:Mayo Clinic electronic medical records were searched for patients with CS. Data on demographics, CS diagnosis, family history, genetic testing, and NET diagnosis were extracted. RESULTS: A total of 26 patients with CS were identified with 3 (11.5%) of them having an additional diagnosis of NET. Three patients had a family history of NET (11.53%), and 7 patients had a family history of CS (26.9%). Of the 3 NET/CS patients, 2 had a confirmed primary NET from the presacral mass, with the third patient demonstrating focal uptake on the somatostatin receptor imaging within the presacral. Two patients received octreotide, followed by peptide receptor radionuclide therapy. The other patient was not treated because of complete resection of presacral mass and is currently undergoing surveillance scans. CONCLUSIONS: In our patients with CS, the prevalence of NET is 11.53%. The coexistence of 2 rare conditions, CS and presacral NET, suggests that there may be an etiological connection.
Authors: Sami Matrood; Leonidas Apostolidis; Jörg Schrader; Sebastian Krug; Harald Lahner; Annette Ramaswamy; Damiano Librizzi; Zoltan Kender; Anke Kröcher; Simon Kreutzfeldt; Thomas Matthias Gress; Anja Rinke Journal: Front Endocrinol (Lausanne) Date: 2021-10-06 Impact factor: 5.555