PMID- 25703106
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150403
LR  - 20201001
IS  - 2210-2612 (Print)
IS  - 2210-2612 (Electronic)
IS  - 2210-2612 (Linking)
VI  - 9
DP  - 2015
TI  - Molecular analysis of a mammary analog secretory carcinoma in the upper lip: 
      Novel search for genetic and epigenetic abnormalities in MASC.
PG  - 8-11
LID - S2210-2612(15)00075-9 [pii]
LID - 10.1016/j.ijscr.2015.02.011 [doi]
AB  - INTRODUCTION: Mammary analog secretory carcinoma (MASC) is a newly described rare 
      malignancy of the salivary glands characterized by an ETS variant 6 
      (ETV6)-neurotrophic tyrosine kinase receptor type 3 (NTRK3) fusion gene (EN 
      fusion gene). PRESENTATION OF CASE: We present a case of MASC derived from the 
      left upper lip in a 61-year-old woman. ETV6 rearrangement was detected by 
      fluorescence in situ hybridization (FISH). The presence of EN fusion transcripts 
      was verified by reverse-transcriptase polymerase chain reaction (RT-PCR) and 
      sequencing of the PCR products. Accordingly, this tumor was diagnosed as MASC. 
      Moreover, we performed mutation analysis of the 50 known cancer-related genes 
      using next-generation sequencing. No mutation of cancer-related genes was 
      identified here. Subsequently, the methylation status in promoter region of 
      tumor-suppressor genes, RASSF1A and RARB2, was examined. Both genes have been 
      reported to be methylated in malignant salivary gland tumors, but they were found 
      to be unmethylated. DISCUSSION: Recent studies have demonstrated that distinct 
      types of malignant salivary gland carcinomas are driven by specific, highly 
      recurrent genetic alterations. Detection of molecular abnormalities could be 
      powerful diagnostic tools in the field of salivary gland tumors in near future. 
      CONCLUSION: We experienced a rare malignant salivary gland carcinoma, MASC. We 
      diagnosed this tumor by molecular approach and subsequently tried to identify 
      novel molecular abnormalities. Although no novel molecular alteration except for 
      EN fusion gene was identified, this result might represent the favorable 
      prognosis of patients with MASC.
CI  - Copyright (c) 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.
FAU - Abe, Masanobu
AU  - Abe M
AD  - Department of Oral & Maxillofacial Surgery, University of Tokyo Hospital, Tokyo, 
      Japan; Division for Health Service Promotion, University of Tokyo, Tokyo, Japan. 
      Electronic address: abem-ora@h.u-tokyo.ac.jp.
FAU - Inaki, Ryoko
AU  - Inaki R
AD  - Department of Oral & Maxillofacial Surgery, University of Tokyo Hospital, Tokyo, 
      Japan.
FAU - Kanno, Yuki
AU  - Kanno Y
AD  - Department of Oral & Maxillofacial Surgery, University of Tokyo Hospital, Tokyo, 
      Japan.
FAU - Hoshi, Kazuto
AU  - Hoshi K
AD  - Department of Oral & Maxillofacial Surgery, University of Tokyo Hospital, Tokyo, 
      Japan.
FAU - Takato, Tsuyoshi
AU  - Takato T
AD  - Department of Oral & Maxillofacial Surgery, University of Tokyo Hospital, Tokyo, 
      Japan.
LA  - eng
PT  - Journal Article
DEP - 20150211
PL  - Netherlands
TA  - Int J Surg Case Rep
JT  - International journal of surgery case reports
JID - 101529872
PMC - PMC4392290
OTO - NOTNLM
OT  - DNA methylation
OT  - ETV6-NTRK3 fusion gene
OT  - MASC
OT  - Mammary analog secretory carcinoma
OT  - Mutation
OT  - Salivary gland tumor
EDAT- 2015/02/24 06:00
MHDA- 2015/02/24 06:01
PMCR- 2015/02/11
CRDT- 2015/02/24 06:00
PHST- 2014/12/26 00:00 [received]
PHST- 2015/02/07 00:00 [accepted]
PHST- 2015/02/24 06:00 [entrez]
PHST- 2015/02/24 06:00 [pubmed]
PHST- 2015/02/24 06:01 [medline]
PHST- 2015/02/11 00:00 [pmc-release]
AID - S2210-2612(15)00075-9 [pii]
AID - 10.1016/j.ijscr.2015.02.011 [doi]
PST - ppublish
SO  - Int J Surg Case Rep. 2015;9:8-11. doi: 10.1016/j.ijscr.2015.02.011. Epub 2015 Feb 
      11.