Metachronous multiple insulinomas in oculo-facio-cardio-dental syndrome harboring a novel BCOR deletion: a case report with review of literature
Abstract
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant disorder caused by pathogenic variants in the BCOR gene and is characterized by distinctive craniofacial, ocular, cardiac, and dental abnormalities. Although OFCD syndrome is a well-defined developmental disorder, its association with endocrine tumors has not been clearly established. We report a female patient with genetically confirmed OFCD syndrome harboring a novel heterozygous deletion in BCOR who developed metachronous multiple insulinomas. The patient presented with recurrent hypoglycemic episodes, and pancreatic neuroendocrine tumors were detected at different time points, necessitating repeated surgical interventions. Histopathological examination confirmed insulinoma in each resected lesion. Comprehensive clinical and pathological evaluations revealed no features suggestive of other known hereditary insulinoma-associated syndromes, including multiple endocrine neoplasia type 1. Previous reports have described either recurrent insulinoma without genetic confirmation of OFCD syndrome or multiple insulinomas without documented recurrence in genetically confirmed cases. In contrast, the present case uniquely demonstrates metachronous development of multiple insulinomas in association with a novel BCOR deletion. Given the role of BCOR in transcriptional repression and developmental regulation, this case suggests a potential contribution of BCOR dysfunction to pancreatic neuroendocrine tumorigenesis. Our findings expand the phenotypic and genotypic spectrum of OFCD syndrome and underscore the importance of long-term surveillance and further accumulation of cases to clarify tumor predisposition in this rare disorder.
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BibTeX
@article{noso2026metachronous,
title = {{Metachronous multiple insulinomas in oculo-facio-cardio-dental syndrome harboring a novel BCOR deletion: a case report with review of literature}},
author = {Shinsuke Noso and Hiroki Miki and Yoshihisa Hiromine and Naru Babaya and Yasunori Taketomo and Sawa Yoshida and Katsuya Ami and Ippei Matsumoto and Norikazu Maeda},
journal = {Endocrine Journal},
year = {2026},
month = oct,
doi = {10.1507/endocrj.ej26-0090},
url = {https://www.jstage.jst.go.jp/article/endocrj/73/10/73_EJ26-0090/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Metachronous multiple insulinomas in oculo-facio-cardio-dental syndrome harboring a novel BCOR deletion: a case report with review of literature
AU - Shinsuke Noso
AU - Hiroki Miki
AU - Yoshihisa Hiromine
AU - Naru Babaya
AU - Yasunori Taketomo
AU - Sawa Yoshida
AU - Katsuya Ami
AU - Ippei Matsumoto
AU - Norikazu Maeda
PY - 2026
DA - 2026/10/01
JO - Endocrine Journal
DO - 10.1507/endocrj.ej26-0090
UR - https://www.jstage.jst.go.jp/article/endocrj/73/10/73_EJ26-0090/_article
AB - Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant disorder caused by pathogenic variants in the BCOR gene and is characterized by distinctive craniofacial, ocular, cardiac, and dental abnormalities. Although OFCD syndrome is a well-defined developmental disorder, its association with endocrine tumors has not been clearly established. We report a female patient with genetically confirmed OFCD syndrome harboring a novel heterozygous deletion in BCOR who developed metachronous multiple insulinomas. The patient presented with recurrent hypoglycemic episodes, and pancreatic neuroendocrine tumors were detected at different time points, necessitating repeated surgical interventions. Histopathological examination confirmed insulinoma in each resected lesion. Comprehensive clinical and pathological evaluations revealed no features suggestive of other known hereditary insulinoma-associated syndromes, including multiple endocrine neoplasia type 1. Previous reports have described either recurrent insulinoma without genetic confirmation of OFCD syndrome or multiple insulinomas without documented recurrence in genetically confirmed cases. In contrast, the present case uniquely demonstrates metachronous development of multiple insulinomas in association with a novel BCOR deletion. Given the role of BCOR in transcriptional repression and developmental regulation, this case suggests a potential contribution of BCOR dysfunction to pancreatic neuroendocrine tumorigenesis. Our findings expand the phenotypic and genotypic spectrum of OFCD syndrome and underscore the importance of long-term surveillance and further accumulation of cases to clarify tumor predisposition in this rare disorder.
SN - 1348-4540
SN - 0918-8959
ER -