PMID- 32655935
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200928
IS  - 2078-6891 (Print)
IS  - 2219-679X (Electronic)
IS  - 2078-6891 (Linking)
VI  - 11
IP  - 3
DP  - 2020 Jun
TI  - Inherited syndromes involving pancreatic neuroendocrine tumors.
PG  - 559-566
LID - 10.21037/jgo.2020.03.09 [doi]
AB  - Inherited syndromes are important to recognize in the setting of a pancreatic 
      neuroendocrine tumor (PNET) as there are significant implications for the 
      patient's medical management and opportunity for early detection of subsequent 
      manifestations. Although most PNETs are sporadic, approximately 10% are due to an 
      inherited syndrome, which include multiple endocrine neoplasia type 1 (MEN1), 
      multiple endocrine neoplasia type 4 (MEN4), von Hippel-Lindau disease (VHL), 
      neurofibromatosis type 1 (NF1), and tuberous sclerosis complex (TSC). The general 
      hallmarks of a hereditary endocrine neoplasia predisposition syndrome include any 
      one of the following: multiple primary tumors (in the same or different organs), 
      rare tumors (prevalence of less than 1 in 1,000 people in the general 
      population), earlier age of diagnosis (usually under the age of 40), 
      characteristic pattern of disease in the individual or family (phenotype and 
      inheritance pattern). These syndromes are monogenic (due to a single gene 
      disorder), highly penetrant (with all carriers of the disease exhibiting at least 
      part of the phenotype) and can display variable expressivity (where affected 
      individuals may have different presentations and features of the disease). A 
      thoughtful approach to management is required, even if the presenting symptom is 
      resolved, as these syndromes often involve multi-organ disease with a lifelong 
      risk for tumor development. Additionally, the natural history of tumors in the 
      setting of a hereditary condition may be different than would be expected in a 
      sporadic form of the disease. For example, in some circumstances the risk of 
      metastatic disease is lower, and therefor longer observation is the preferred 
      approach over early surgical intervention. The unique aspects to management, 
      challenges in hereditary disease recognition and accurate diagnosis, and rarity 
      of these syndromes are all reasons to support referral to high-volume centers 
      with the experience and knowledge to treat patients with hereditary endocrine 
      neoplasia syndromes.
CI  - 2020 Journal of Gastrointestinal Oncology. All rights reserved.
FAU - Geurts, Jennifer L
AU  - Geurts JL
AD  - Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - China
TA  - J Gastrointest Oncol
JT  - Journal of gastrointestinal oncology
JID - 101557751
PMC - PMC7340802
OTO - NOTNLM
OT  - Multiple endocrine neoplasia type 1 (MEN1)
OT  - genetic counseling
OT  - neuroendocrine tumor
OT  - pancreatic neoplasms
OT  - von Hippel-Lindau disease (VHL)
COIS- Conflicts of Interest: The author has completed the ICMJE uniform disclosure form 
      (available at http://dx.doi.org/10.21037/jgo.2020.03.09). The series "Pancreatic 
      Neuroendocrine Tumors" was commissioned by the editorial office without any 
      funding or sponsorship. The author has no other conflicts of interest to declare.
EDAT- 2020/07/14 06:00
MHDA- 2020/07/14 06:01
PMCR- 2020/06/01
CRDT- 2020/07/14 06:00
PHST- 2020/07/14 06:00 [entrez]
PHST- 2020/07/14 06:00 [pubmed]
PHST- 2020/07/14 06:01 [medline]
PHST- 2020/06/01 00:00 [pmc-release]
AID - jgo-11-03-559 [pii]
AID - 10.21037/jgo.2020.03.09 [doi]
PST - ppublish
SO  - J Gastrointest Oncol. 2020 Jun;11(3):559-566. doi: 10.21037/jgo.2020.03.09.