PMID- 37891063
OWN - NLM
STAT- MEDLINE
DCOM- 20231216
LR  - 20240201
IS  - 1532-7361 (Electronic)
IS  - 0039-6060 (Linking)
VI  - 175
IP  - 1
DP  - 2024 Jan
TI  - Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: 
      Impact of genotype and surgical approach on long-term postoperative outcomes.
PG  - 8-16
LID - S0039-6060(23)00630-X [pii]
LID - 10.1016/j.surg.2023.05.044 [doi]
AB  - BACKGROUND: Protein-truncating germline pathogenic variants in the N- and 
      C-terminal exons (2, 9, and 10) of the MEN1 gene may be associated with 
      aggressive pancreatic neuroendocrine tumors. However, the impact of these 
      variants on parathyroid disease is poorly understood. We sought to investigate 
      the effects of genotype and surgical approach on clinical phenotype and 
      postoperative outcomes in patients with multiple endocrine neoplasia type 1 
      (MEN1)-related primary hyperparathyroidism. METHODS: We identified patients with 
      MEN1 evaluated at our institution from 1985 to 2020 and stratified them by 
      genotype, (truncating variants in exons 2, 9, or 10, or other variants), and 
      index surgical approach, (less-than-subtotal parathyroidectomy [<SPTX], SPTX, or 
      total parathyroidectomy). We analyzed baseline characteristics, 
      persistent/recurrent disease rates, and incidence of postoperative 
      hypoparathyroidism. RESULTS: Of the 209 patients we identified, primary 
      hyperparathyroidism was diagnosed in 194 (93%) and at a younger median age in 
      those with truncating exon 2, 9, or 10 variants compared with other variants (27 
      years vs 31 years; P = .006). Median disease-free survival was significantly 
      worse in patients who underwent <SPTX (60 months) than those who underwent <SPTX 
      (152 months; P = .0005) or total parathyroidectomy (210 months; P = .04). 
      Patients with truncating exon 2, 9, or 10 variants who underwent <SPTX had 
      significantly shorter median disease-free survival than those with other variants 
      (30 vs 84 months; P = .007). Prolonged hypoparathyroidism rates after final 
      surgery were highest after total parathyroidectomy (40%), followed by <SPTX (9%) 
      and SPTX (7%). CONCLUSION: The MEN1 genotype may affect the age of onset of 
      primary hyperparathyroidism and the time to recurrence after surgery. <SPTX at 
      index operation should be performed with caution, especially in patients with 
      truncating MEN1 variants in exons 2, 9, or 10, as the higher risk of recurrence 
      is not offset by a decreased incidence of permanent hypoparathyroidism compared 
      to upfront SPTX.
CI  - Copyright (c) 2023 Elsevier Inc. All rights reserved.
FAU - Shariq, Omair A
AU  - Shariq OA
AD  - Department of Surgery, Mayo Clinic, Rochester, MN. Electronic address: 
      shariq.omair@mayo.edu.
FAU - Abrantes, Vitor B
AU  - Abrantes VB
AD  - Department of Surgery, Mayo Clinic, Rochester, MN.
FAU - Lu, Lauren Y
AU  - Lu LY
AD  - Department of Surgery, Mayo Clinic, Rochester, MN.
FAU - Tebben, Peter J
AU  - Tebben PJ
AD  - Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, 
      Rochester, MN.
FAU - Foster, Trenton M
AU  - Foster TM
AD  - Department of Surgery, Mayo Clinic, Rochester, MN.
FAU - Dy, Benzon M
AU  - Dy BM
AD  - Department of Surgery, Mayo Clinic, Rochester, MN.
FAU - Lyden, Melanie L
AU  - Lyden ML
AD  - Department of Surgery, Mayo Clinic, Rochester, MN.
FAU - Young, William F
AU  - Young WF
AD  - Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, 
      Rochester, MN.
FAU - McKenzie, Travis J
AU  - McKenzie TJ
AD  - Department of Surgery, Mayo Clinic, Rochester, MN.
LA  - eng
PT  - Journal Article
DEP - 20231025
PL  - United States
TA  - Surgery
JT  - Surgery
JID - 0417347
SB  - IM
MH  - Humans
MH  - Adult
MH  - *Multiple Endocrine Neoplasia Type 1/complications/genetics/surgery
MH  - *Hyperparathyroidism, Primary/genetics/surgery/epidemiology
MH  - Neoplasm Recurrence, Local/surgery
MH  - Parathyroidectomy/adverse effects
MH  - *Hypoparathyroidism/etiology
MH  - Genotype
EDAT- 2023/10/28 11:42
MHDA- 2023/12/17 09:45
CRDT- 2023/10/27 22:56
PHST- 2023/02/10 00:00 [received]
PHST- 2023/04/25 00:00 [revised]
PHST- 2023/05/24 00:00 [accepted]
PHST- 2023/12/17 09:45 [medline]
PHST- 2023/10/28 11:42 [pubmed]
PHST- 2023/10/27 22:56 [entrez]
AID - S0039-6060(23)00630-X [pii]
AID - 10.1016/j.surg.2023.05.044 [doi]
PST - ppublish
SO  - Surgery. 2024 Jan;175(1):8-16. doi: 10.1016/j.surg.2023.05.044. Epub 2023 Oct 25.