PMID- 27259010
OWN - NLM
STAT- MEDLINE
DCOM- 20170705
LR  - 20210816
IS  - 1532-0979 (Electronic)
IS  - 0147-5185 (Linking)
VI  - 40
IP  - 10
DP  - 2016 Oct
TI  - CTNNB1 Mutations and Estrogen Receptor Expression in Neuromuscular Choristoma and 
      Its Associated Fibromatosis.
PG  - 1368-74
LID - 10.1097/PAS.0000000000000673 [doi]
AB  - Neuromuscular choristoma (NMC) is a very rare, developmental malformation 
      characterized by the endoneurial intercalation of mature muscle fibers among 
      peripheral nerve fibers. NMC typically arises in the major proximal peripheral 
      nerves, most commonly the sciatic nerve, and may involve the lumbosacral and 
      brachial plexus. Patients present clinically with progressive neuropathy or 
      plexopathy. NMC is strongly associated with development of a fibromatosis, 
      histologically identical to conventional desmoid-type fibromatosis 
      (NMC-fibromatosis). The development of NMC-fibromatosis is often precipitated by 
      iatrogenic trauma (ie, biopsy). Desmoid-type fibromatosis is characterized by 
      CTNNB1 exon 3 mutations, which result in aberrant nuclear beta-catenin localization 
      and dysregulated canonical Wnt signaling. In contrast, the pathogenesis of NMC 
      and NMC-fibromatosis is unknown. Desmoid-type fibromatosis expresses estrogen 
      receptors (ER), specifically the ER-beta isoform (ERbeta), and endocrine therapies 
      may be used in surgically unresectable cases. In contrast, the ER expression 
      profile of NMC-fibromatosis is unknown. We evaluated a series of NMC and 
      NMC-fibromatosis for CTNNB1 mutations, beta-catenin expression, and ER isoform 
      expression. Five NMCs occurred in 2 female and 3 male patients (median age: 14 y, 
      range <1 to 42 y), as masses involving the sciatic nerve (N=4) or brachial plexus 
      (N=1). Four (of 5) NMCs had CTNNB1 mutations: 3 c.134 C>T (p.S45F) and 1 c.121 
      A>G (p.T41A). Four patients subsequently developed NMC-fibromatosis, and all 4 
      cases contained CTNNB1 mutations, including 1 p.T41A and 3 p.S45F mutations. In 3 
      patients, the NMC and NMC-fibromatosis had identical CTNNB1 mutations. Only 1 NMC 
      had no detectable CTNNB1 mutation; however, the patient's subsequent 
      NMC-fibromatosis had a CTNNB1 p.T41A mutation. All NMC and NMC-fibromatosis 
      showed aberrant nuclear localization of beta-catenin, nuclear ERbeta expression, and no 
      ERalpha expression. The presence of CTNNB1 mutations both in NMC and NMC-fibromatosis 
      may be a shared molecular genetic abnormality underlying their pathogenesis.
FAU - Carter, Jodi M
AU  - Carter JM
AD  - Departments of *Laboratory Medicine and Pathology daggerRadiology double daggerBiochemistry and 
      Molecular Biology  section signNeurosurgery, Mayo Clinic, Rochester, MN.
FAU - Howe, Benjamin M
AU  - Howe BM
FAU - Hawse, John R
AU  - Hawse JR
FAU - Giannini, Caterina
AU  - Giannini C
FAU - Spinner, Robert J
AU  - Spinner RJ
FAU - Fritchie, Karen J
AU  - Fritchie KJ
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (Biomarkers)
RN  - 0 (CTNNB1 protein, human)
RN  - 0 (ESR1 protein, human)
RN  - 0 (Estrogen Receptor alpha)
RN  - 0 (Estrogen Receptor beta)
RN  - 0 (Genetic Markers)
RN  - 0 (beta Catenin)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Biomarkers/metabolism
MH  - Brachial Plexus Neuropathies/complications/genetics/metabolism/pathology
MH  - Child
MH  - Child, Preschool
MH  - Choristoma/complications/*genetics/metabolism/pathology
MH  - Estrogen Receptor alpha/*metabolism
MH  - Estrogen Receptor beta/*metabolism
MH  - Female
MH  - Fibromatosis, Aggressive/etiology/*genetics/metabolism/pathology
MH  - Follow-Up Studies
MH  - Genetic Markers
MH  - Humans
MH  - Immunohistochemistry
MH  - Infant
MH  - Male
MH  - *Muscle Fibers, Skeletal
MH  - Peripheral Nervous System Diseases/complications/*genetics/metabolism/pathology
MH  - Sciatic Neuropathy/complications/genetics/metabolism/pathology
MH  - Young Adult
MH  - beta Catenin/*genetics/metabolism
EDAT- 2016/06/04 06:00
MHDA- 2017/07/06 06:00
CRDT- 2016/06/04 06:00
PHST- 2016/06/04 06:00 [entrez]
PHST- 2016/06/04 06:00 [pubmed]
PHST- 2017/07/06 06:00 [medline]
AID - 10.1097/PAS.0000000000000673 [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2016 Oct;40(10):1368-74. doi: 10.1097/PAS.0000000000000673.