PMID- 38510015
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240322
IS  - 2405-8440 (Print)
IS  - 2405-8440 (Electronic)
IS  - 2405-8440 (Linking)
VI  - 10
IP  - 6
DP  - 2024 Mar 30
TI  - PDP type brain tumor in association with multiple endocrine neoplasia type 1.
PG  - e27418
LID - 10.1016/j.heliyon.2024.e27418 [doi]
LID - e27418
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant syndrome 
      caused by inactivating pathogenic variants in the tumor suppressor gene menin 1 
      on chromosome 11q13 (Falchetti et al., 2009). The syndrome is characterized by 
      neoplasia in two or more endocrine glands and has a high degree of penetrance. 
      Pathogenic germline multiple neoplasia type 1 variants primarily result in 
      neoplasia affecting the parathyroid glands, the pancreatic islet cells, and the 
      anterior pituitary in combination. Primary hyperparathyroidism is the most common 
      pathological manifestation of the syndrome, followed by pancreatic neuroendocrine 
      tumors. Important genetic confirmation has been provided showing that ependymoma 
      should be considered as a neoplasm that can occur in patients with MEN1 (Kato et 
      al., 1996; Cuevas-Ocampo et al., 2017). The biphasic histopathological tumor 
      entity shown in the present case we name Pleomorphic Xanthoastocytoma grade 3 
      differential pathology (PDP) in association with Multiple Endocrine Neoplasia 
      type 1. This MEN1 associated tumor subtype is an extension of the findings on 
      MEN1 associated ependymoma, where we show that the clinical phenotype itself may 
      potentially be triggered by a frameshift germline pathogenic variant for the MEN1 
      gene, in combination with cyclin-dependent kinase inhibitor 1B gene germline 
      variant and cyclin dependent kinase inhibitor 2A somatic deletion downstream of 
      menin.
CI  - (c) 2024 The Authors.
FAU - Einarsson, Halldor Bjarki
AU  - Einarsson HB
AD  - Department of Neurosurgery, Aalborg University Hospital, Denmark.
FAU - Frederiksen, Anja Lisbeth
AU  - Frederiksen AL
AD  - Molecular Diagnostics, Aalborg University Hospital and Clinical Cancer Research 
      Center, Aalborg University Hospital, Denmark.
AD  - Department of Clinical Medicine, Aalborg University, Denmark.
FAU - Pedersen, Inge Soekilde
AU  - Pedersen IS
AD  - Molecular Diagnostics, Aalborg University Hospital and Clinical Cancer Research 
      Center, Aalborg University Hospital, Denmark.
AD  - Department of Clinical Medicine, Aalborg University, Denmark.
FAU - Ettrup, Marianne Schmidt
AU  - Ettrup MS
AD  - Department of Pathology, Aalborg University Hospital, Denmark.
FAU - Wirenfeldt, Martin
AU  - Wirenfeldt M
AD  - Department of Pathology, Hospital South West Jutland, Denmark.
AD  - Department of Regional Health Research, University of Southern, Denmark.
AD  - Department of Clinical Research and BRIDGE, Brain Research - Inter-Disciplinary 
      Guided Excellence, University of Southern, Denmark.
FAU - Boldt, Henning
AU  - Boldt H
AD  - Department of Pathology, Odense University Hospital, Denmark.
FAU - Nguyen, Nina
AU  - Nguyen N
AD  - Department of Neuroradiology, Odense University Hospital, Denmark.
FAU - Andersen, Marianne Skovsager
AU  - Andersen MS
AD  - Department of Endocrinology, Odense University Hospital, Denmark.
FAU - Bjarkam, Carsten Reidies
AU  - Bjarkam CR
AD  - Department of Neurosurgery, Aalborg University Hospital, Denmark.
FAU - Poulsen, Frantz Rom
AU  - Poulsen FR
AD  - Department of Neurosurgery, Odense University Hospital, Denmark.
AD  - Department of Clinical Research and BRIDGE, Brain Research - Inter-Disciplinary 
      Guided Excellence, University of Southern, Denmark.
LA  - eng
PT  - Case Reports
DEP - 20240312
PL  - England
TA  - Heliyon
JT  - Heliyon
JID - 101672560
PMC - PMC10951523
OTO - NOTNLM
OT  - Cyclin-dependent kinase inhibitor
OT  - Ependymoma
OT  - Multiple endocrine neoplasia type 1
OT  - Pleomorphic xanthoastrocytoma
COIS- The authors declare that they have no known competing financial interests or 
      personal relationships that could have appeared to influence the work reported in 
      this paper.
EDAT- 2024/03/21 06:43
MHDA- 2024/03/21 06:44
PMCR- 2024/03/12
CRDT- 2024/03/21 03:58
PHST- 2023/08/24 00:00 [received]
PHST- 2024/02/15 00:00 [revised]
PHST- 2024/02/28 00:00 [accepted]
PHST- 2024/03/21 06:44 [medline]
PHST- 2024/03/21 06:43 [pubmed]
PHST- 2024/03/21 03:58 [entrez]
PHST- 2024/03/12 00:00 [pmc-release]
AID - S2405-8440(24)03449-2 [pii]
AID - e27418 [pii]
AID - 10.1016/j.heliyon.2024.e27418 [doi]
PST - epublish
SO  - Heliyon. 2024 Mar 12;10(6):e27418. doi: 10.1016/j.heliyon.2024.e27418. 
      eCollection 2024 Mar 30.