TY - JOUR
T1 - Currarino Syndrome
T2 - A Rare Condition with Potential Connection to Neuroendocrine Tumors
AU - Liu, Alex J.
AU - Halfdanarson, Thorvardur R.
AU - Sonbol, Mohamad B.
N1 - Publisher Copyright:
© 2020 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2020/9/1
Y1 - 2020/9/1
N2 - 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.
AB - 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.
KW - Currarino syndrome
KW - anorectal malformations
KW - neuroendocrine tumor
KW - presacral mass
KW - sacral dysgenesis
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U2 - 10.1097/MPA.0000000000001632
DO - 10.1097/MPA.0000000000001632
M3 - Article
C2 - 32833944
AN - SCOPUS:85089928857
SN - 0885-3177
VL - 49
SP - 1104
EP - 1108
JO - Pancreas
JF - Pancreas
IS - 8
ER -