TY - JOUR
T1 - MODY5 and Serous Ovarian Carcinoma in 17q12 Recurrent Deletion Syndrome
AU - Kumar, Aswathi
AU - Hollar, Laura
AU - McGill, Janet B.
AU - Thaker, Premal H.
AU - Salam, Maamoun
N1 - Publisher Copyright:
© 2023 AACE
PY - 2023/7/1
Y1 - 2023/7/1
N2 - Background/Objective: Maturity-onset diabetes of the young type 5 (MODY5) is caused by a hepatocyte nuclear factor 1β (HNF1β) gene mutation on chromosome 17q12. HNF1β mutations have also been found in ovarian clear cell carcinoma, whereas ovarian non–clear cell carcinoma expresses this mutation rarely. 17q12 recurrent deletion syndrome features include MODY5, urogenital anomalies, and psychiatric and neurodevelopmental disorders. This is a report of a patient with 17q12 recurrent deletion syndrome with MODY5, uterine abnormalities, and low-grade serous ovarian cancer. Case Report: A 25-year-old woman with recently diagnosed stage IIIC low-grade serous ovarian carcinoma was evaluated at the endocrinology clinic for diabetes, which was diagnosed at the age of 12 years. C-peptide level was detectable and T1DM antibodies were negative. The mother had diabetes, partially septated uterus, and solitary kidney. Abdominal computed tomography showed pancreatic atrophy, ascites, omental and peritoneal nodularity, and calcifications. Laparoscopy revealed bicornuate uterus, 2 cervices, and vaginal septum. The patient underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy, lymph node dissection, and omentectomy. Chromosomal microarray analysis revealed a pathogenic ∼1.8 Mb loss of 17q12, denoted arr[hg19]17q12(34477479_36283807)x1. Discussion: 17q12deletion has been described as a susceptibility locus in some ovarian cancers. However, to our knowledge, predisposition to ovarian cancer as a feature of 17q12 recurrent deletion syndrome or MODY5 was not reported previously. Conclusion: The disease association reported suggests that medical providers should periodically evaluate for ovarian cancer, gut, and urogenital abnormalities in individuals with MODY5. Likewise, individuals with diabetes plus urogenital tract abnormalities or 17q12deletion in an ovarian tumor should undergo genetic testing for MODY5.
AB - Background/Objective: Maturity-onset diabetes of the young type 5 (MODY5) is caused by a hepatocyte nuclear factor 1β (HNF1β) gene mutation on chromosome 17q12. HNF1β mutations have also been found in ovarian clear cell carcinoma, whereas ovarian non–clear cell carcinoma expresses this mutation rarely. 17q12 recurrent deletion syndrome features include MODY5, urogenital anomalies, and psychiatric and neurodevelopmental disorders. This is a report of a patient with 17q12 recurrent deletion syndrome with MODY5, uterine abnormalities, and low-grade serous ovarian cancer. Case Report: A 25-year-old woman with recently diagnosed stage IIIC low-grade serous ovarian carcinoma was evaluated at the endocrinology clinic for diabetes, which was diagnosed at the age of 12 years. C-peptide level was detectable and T1DM antibodies were negative. The mother had diabetes, partially septated uterus, and solitary kidney. Abdominal computed tomography showed pancreatic atrophy, ascites, omental and peritoneal nodularity, and calcifications. Laparoscopy revealed bicornuate uterus, 2 cervices, and vaginal septum. The patient underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy, lymph node dissection, and omentectomy. Chromosomal microarray analysis revealed a pathogenic ∼1.8 Mb loss of 17q12, denoted arr[hg19]17q12(34477479_36283807)x1. Discussion: 17q12deletion has been described as a susceptibility locus in some ovarian cancers. However, to our knowledge, predisposition to ovarian cancer as a feature of 17q12 recurrent deletion syndrome or MODY5 was not reported previously. Conclusion: The disease association reported suggests that medical providers should periodically evaluate for ovarian cancer, gut, and urogenital abnormalities in individuals with MODY5. Likewise, individuals with diabetes plus urogenital tract abnormalities or 17q12deletion in an ovarian tumor should undergo genetic testing for MODY5.
KW - 17q12 recurrent deletion syndrome
KW - CAKUT
KW - MODY5
KW - ovarian cancer
KW - pancreatic atrophy
UR - http://www.scopus.com/inward/record.url?scp=85163108790&partnerID=8YFLogxK
U2 - 10.1016/j.aace.2023.04.008
DO - 10.1016/j.aace.2023.04.008
M3 - Article
C2 - 37520763
AN - SCOPUS:85163108790
SN - 2376-0605
VL - 9
SP - 112
EP - 115
JO - AACE Clinical Case Reports
JF - AACE Clinical Case Reports
IS - 4
ER -