PMID- 32993530
OWN - NLM
STAT- MEDLINE
DCOM- 20201102
LR  - 20201102
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 21
IP  - 1
DP  - 2020 Sep 29
TI  - A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia 
      type 1 and recurrent fibromyxoid sarcoma - a case report.
PG  - 190
LID - 10.1186/s12881-020-01129-4 [doi]
LID - 190
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually 
      accompanied by endocrine tumors, but non-endocrine tumors can occur as well. 
      However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade 
      fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 
      gene mutations have not been identified in patients with fibromyxoid sarcoma, so 
      far. CASE PRESENTATION: We present a patient with a long-year endocrine follow-up 
      due to multiple endocrine tumors. During his lifespan, he has been surgically 
      treated for pancreatic gastrinoma, parathyroid hyperplasia, atypical pulmonary 
      carcinoid, various benign mesenchymal, and several skin tumors (basocellular 
      tumor, lipomas, and fibromas) which raised a high clinical suspicion of MEN1 
      syndrome but the patient refused genetic testing. Recently, he developed a novel 
      malignant tumor - recurrent low-grade fibromyxoid sarcoma of the trunk and 
      extremities with multiple subsequent operations. The patient eventually accepted 
      the genetic testing which proved him to be a carrier of a novel mutation in the 
      MEN1 gene. CONCLUSIONS: Unlike some other syndromes where a genetic mutation can 
      predict clinical course, there is no genotype-phenotype correlation in MEN1 
      syndrome. Therefore, these patients require lifelong and multidisciplinary 
      surveillance, not only for typical endocrine and benign non-endocrine tumors but 
      also for diverse and even more malignant forms. The atypical clinical 
      presentation should pose suspicion about new gene mutation and serve as a warning 
      in the further follow-up.
FAU - Radman, Maja
AU  - Radman M
AD  - Department of Endocrinology and Diabetology, University Hospital Centre Split, 
      Soltanska 1, Split, Croatia.
AD  - University of Split, School of Medicine, Soltanska 2, Split, Croatia.
FAU - Milicevic, Tanja
AU  - Milicevic T
AUID- ORCID: 0000-0003-3083-6880
AD  - Department of Endocrinology and Diabetology, University Hospital Centre Split, 
      Soltanska 1, Split, Croatia. tanja.milicevic2@gmail.com.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20200929
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Fibrosarcoma/diagnosis/*genetics
MH  - Genetic Testing
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - *Mutation
MH  - Neoplasm Recurrence, Local
MH  - Proto-Oncogene Proteins/*genetics
PMC - PMC7526371
OTO - NOTNLM
OT  - Low-grade fibromyxoid sarcoma
OT  - Multiple endocrine neoplasia type 1
OT  - Mutation
OT  - Tumor-suppressing gene
COIS- The authors declare that they have no competing interests.
EDAT- 2020/10/01 06:00
MHDA- 2020/11/03 06:00
PMCR- 2020/09/29
CRDT- 2020/09/30 05:45
PHST- 2020/07/14 00:00 [received]
PHST- 2020/09/22 00:00 [accepted]
PHST- 2020/09/30 05:45 [entrez]
PHST- 2020/10/01 06:00 [pubmed]
PHST- 2020/11/03 06:00 [medline]
PHST- 2020/09/29 00:00 [pmc-release]
AID - 10.1186/s12881-020-01129-4 [pii]
AID - 1129 [pii]
AID - 10.1186/s12881-020-01129-4 [doi]
PST - epublish
SO  - BMC Med Genet. 2020 Sep 29;21(1):190. doi: 10.1186/s12881-020-01129-4.