PMID- 37199453
OWN - NLM
STAT- MEDLINE
DCOM- 20230620
LR  - 20230922
IS  - 1532-0979 (Electronic)
IS  - 0147-5185 (Print)
IS  - 0147-5185 (Linking)
VI  - 47
IP  - 7
DP  - 2023 Jul 1
TI  - Diagnostic Utility of Menin Immunohistochemistry in Patients With Multiple 
      Endocrine Neoplasia Type 1 Syndrome.
PG  - 785-791
LID - 10.1097/PAS.0000000000002050 [doi]
AB  - A clinical diagnosis of multiple endocrine neoplasia type 1 (MEN1) syndrome is 
      usually confirmed with genetic testing in the germline. It is expected that menin 
      protein expression is lost in MEN1-related tumors. Therefore, we investigated the 
      potential of menin immunohistochemistry in parathyroid adenomas as an additional 
      tool in the recognition and genetic diagnosis of MEN1 syndrome. Local pathology 
      archives were searched for parathyroid tumors from patients with MEN1 syndrome 
      and without MEN1, including sporadic, patients with multiple endocrine neoplasia 
      type 2A and hyperparathyroidism-jaw parathyroid tumors. Menin 
      immunohistochemistry was performed and its use to identify MEN1-related tumors 
      was assessed. Twenty-nine parathyroid tumors from 16 patients with MEN1 and 61 
      patients with parathyroid tumors from 32 non-MEN1 were evaluated. 
      Immunohistochemical nuclear menin loss in one or more tumors was found in 100% of 
      patients with MEN1 and 9% of patients with non-MEN1. In patients with multiple 
      tumors, menin loss in at least one tumor was seen in 100% of 8 patients with MEN1 
      and 21% of patients with 14 non-MEN1. Using a cutoff of at least 2 tumors showing 
      menin loss per patient, the positive and negative predictive values for the 
      diagnosis MEN1 were both 100%. The practical and additional value of menin 
      immunohistochemistry in clinical genetic MEN1 diagnosis is further illustrated by 
      menin immunohistochemistry in 2 cases with a germline variant of unknown 
      significance in the MEN1 gene. Menin immunohistochemistry is useful in the 
      recognition of MEN1 syndrome as well as in the clinical genetic analysis of 
      patients with inconclusive MEN1 germline testing.
CI  - Copyright (c) 2023 The Author(s). Published by Wolters Kluwer Health, Inc.
FAU - Verschuur, Anna Vera D
AU  - Verschuur AVD
AD  - Department of Pathology.
FAU - Kok, Aranxa S M
AU  - Kok ASM
AD  - Department of Pathology.
FAU - Morsink, Folkert H M
AU  - Morsink FHM
AD  - Department of Pathology.
FAU - de Leng, Wendy W J
AU  - de Leng WWJ
AD  - Department of Pathology.
FAU - van den Broek, Medard F M
AU  - van den Broek MFM
AD  - Department of Endocrine Oncology, University Medical Center Utrecht Cancer 
      Center, Utrecht University, Utrecht, The Netherlands.
FAU - Koudijs, Marco J
AU  - Koudijs MJ
AD  - Department of Medical Genetics.
FAU - Offerhaus, Johan A
AU  - Offerhaus JA
AD  - Department of Pathology.
FAU - Valk, Gerlof D
AU  - Valk GD
AD  - Department of Endocrine Oncology, University Medical Center Utrecht Cancer 
      Center, Utrecht University, Utrecht, The Netherlands.
FAU - Vriens, Menno R
AU  - Vriens MR
AD  - Department of Endocrine Surgical Oncology, University Medical Center Utrecht.
FAU - van Nesselrooij, Bernadette P M
AU  - van Nesselrooij BPM
AD  - Department of Medical Genetics.
FAU - Hackeng, Wenzel M
AU  - Hackeng WM
AD  - Department of Pathology.
FAU - Brosens, Lodewijk A A
AU  - Brosens LAA
AD  - Department of Pathology.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230518
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
SB  - IM
MH  - Humans
MH  - *Multiple Endocrine Neoplasia Type 1/diagnosis/genetics
MH  - Immunohistochemistry
MH  - *Parathyroid Neoplasms/diagnosis/genetics
MH  - Genetic Testing
MH  - Germ-Line Mutation
PMC - PMC10270278
COIS- Conflicts of Interest and Source of Funding: A.V.D.V. is supported by a research 
      grant from the Dutch Cancer Society (KWF). For the remaining authors, none were 
      declared.
EDAT- 2023/05/18 13:09
MHDA- 2023/06/20 06:41
PMCR- 2023/06/15
CRDT- 2023/05/18 08:13
PHST- 2023/06/20 06:41 [medline]
PHST- 2023/05/18 13:09 [pubmed]
PHST- 2023/05/18 08:13 [entrez]
PHST- 2023/06/15 00:00 [pmc-release]
AID - 00000478-202307000-00005 [pii]
AID - AJSP-D-22-00717 [pii]
AID - 10.1097/PAS.0000000000002050 [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2023 Jul 1;47(7):785-791. doi: 10.1097/PAS.0000000000002050. 
      Epub 2023 May 18.