Hyalinizing clear cell carcinoma with EWSR1-ATF1 fusion gene: report of three cases with molecular analyses

Takafumi Nakano, Hidetaka Yamamoto, Toshimitsu Nishijima, Sadafumi Tamiya, Hideki Shiratsuchi, Torahiko Nakashima, Shizuo Komune, Yoshinao Oda

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Hyalinizing clear cell carcinoma (HCCC) is a low-grade salivary gland carcinoma characterized by clear cells and hyalinized stroma. Recently, the EWSR1-ATF1 fusion gene was found in HCCCs. We herein describe three cases of HCCC identified in one male and two females, ranging in age from 27 to 67 years. The tumors were located in the root of tongue, nasopharynx, and soft palate. They were composed of nested or cord-like proliferations of epithelial cells with clear to pale eosinophilic cytoplasm, embedded in hyalinized and focally fibroedematous stroma. Tumor-associated lymphoid proliferation and pseudoepitheliomatous hyperplasia were also observed in each one case. MAML2 fusions specific to mucoepidermoid carcinoma were not detected in any of the three cases. We found EWSR1-ATF1 in two of three HCCCs using reverse transcription polymerase chain reaction (RT-PCR) with our original primer sets designed to detect the fusion gene transcripts in formalin-fixed paraffin-embedded (FFPE) tissues. EWSR1 rearrangement was also confirmed by fluorescence in situ hybridization (FISH) on FFPE sections in two cases. There was a good concordance between the two methods (two positive cases and one negative case by both RT-PCR and FISH). Therefore, RT-PCR and FISH using FFPE tissue may be ancillary tools to confirm the diagnosis of HCCC.

Original languageEnglish
Pages (from-to)37-43
Number of pages7
JournalVirchows Archiv
Volume466
Issue number1
DOIs
Publication statusPublished - Jan 1 2015

Fingerprint

Gene Fusion
Fluorescence In Situ Hybridization
Paraffin
Formaldehyde
Reverse Transcription
Carcinoma
Polymerase Chain Reaction
Mucoepidermoid Carcinoma
Soft Palate
Nasopharynx
Salivary Glands
Tongue
Hyperplasia
Neoplasms
Cytoplasm
Epithelial Cells

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

Cite this

Hyalinizing clear cell carcinoma with EWSR1-ATF1 fusion gene : report of three cases with molecular analyses. / Nakano, Takafumi; Yamamoto, Hidetaka; Nishijima, Toshimitsu; Tamiya, Sadafumi; Shiratsuchi, Hideki; Nakashima, Torahiko; Komune, Shizuo; Oda, Yoshinao.

In: Virchows Archiv, Vol. 466, No. 1, 01.01.2015, p. 37-43.

Research output: Contribution to journalArticle

Nakano, Takafumi ; Yamamoto, Hidetaka ; Nishijima, Toshimitsu ; Tamiya, Sadafumi ; Shiratsuchi, Hideki ; Nakashima, Torahiko ; Komune, Shizuo ; Oda, Yoshinao. / Hyalinizing clear cell carcinoma with EWSR1-ATF1 fusion gene : report of three cases with molecular analyses. In: Virchows Archiv. 2015 ; Vol. 466, No. 1. pp. 37-43.
@article{7bdf5794892044a6ba6c9e4b4c683c26,
title = "Hyalinizing clear cell carcinoma with EWSR1-ATF1 fusion gene: report of three cases with molecular analyses",
abstract = "Hyalinizing clear cell carcinoma (HCCC) is a low-grade salivary gland carcinoma characterized by clear cells and hyalinized stroma. Recently, the EWSR1-ATF1 fusion gene was found in HCCCs. We herein describe three cases of HCCC identified in one male and two females, ranging in age from 27 to 67 years. The tumors were located in the root of tongue, nasopharynx, and soft palate. They were composed of nested or cord-like proliferations of epithelial cells with clear to pale eosinophilic cytoplasm, embedded in hyalinized and focally fibroedematous stroma. Tumor-associated lymphoid proliferation and pseudoepitheliomatous hyperplasia were also observed in each one case. MAML2 fusions specific to mucoepidermoid carcinoma were not detected in any of the three cases. We found EWSR1-ATF1 in two of three HCCCs using reverse transcription polymerase chain reaction (RT-PCR) with our original primer sets designed to detect the fusion gene transcripts in formalin-fixed paraffin-embedded (FFPE) tissues. EWSR1 rearrangement was also confirmed by fluorescence in situ hybridization (FISH) on FFPE sections in two cases. There was a good concordance between the two methods (two positive cases and one negative case by both RT-PCR and FISH). Therefore, RT-PCR and FISH using FFPE tissue may be ancillary tools to confirm the diagnosis of HCCC.",
author = "Takafumi Nakano and Hidetaka Yamamoto and Toshimitsu Nishijima and Sadafumi Tamiya and Hideki Shiratsuchi and Torahiko Nakashima and Shizuo Komune and Yoshinao Oda",
year = "2015",
month = "1",
day = "1",
doi = "10.1007/s00428-014-1676-5",
language = "English",
volume = "466",
pages = "37--43",
journal = "Virchows Archiv",
issn = "0945-6317",
publisher = "Springer Verlag",
number = "1",

}

TY - JOUR

T1 - Hyalinizing clear cell carcinoma with EWSR1-ATF1 fusion gene

T2 - report of three cases with molecular analyses

AU - Nakano, Takafumi

AU - Yamamoto, Hidetaka

AU - Nishijima, Toshimitsu

AU - Tamiya, Sadafumi

AU - Shiratsuchi, Hideki

AU - Nakashima, Torahiko

AU - Komune, Shizuo

AU - Oda, Yoshinao

PY - 2015/1/1

Y1 - 2015/1/1

N2 - Hyalinizing clear cell carcinoma (HCCC) is a low-grade salivary gland carcinoma characterized by clear cells and hyalinized stroma. Recently, the EWSR1-ATF1 fusion gene was found in HCCCs. We herein describe three cases of HCCC identified in one male and two females, ranging in age from 27 to 67 years. The tumors were located in the root of tongue, nasopharynx, and soft palate. They were composed of nested or cord-like proliferations of epithelial cells with clear to pale eosinophilic cytoplasm, embedded in hyalinized and focally fibroedematous stroma. Tumor-associated lymphoid proliferation and pseudoepitheliomatous hyperplasia were also observed in each one case. MAML2 fusions specific to mucoepidermoid carcinoma were not detected in any of the three cases. We found EWSR1-ATF1 in two of three HCCCs using reverse transcription polymerase chain reaction (RT-PCR) with our original primer sets designed to detect the fusion gene transcripts in formalin-fixed paraffin-embedded (FFPE) tissues. EWSR1 rearrangement was also confirmed by fluorescence in situ hybridization (FISH) on FFPE sections in two cases. There was a good concordance between the two methods (two positive cases and one negative case by both RT-PCR and FISH). Therefore, RT-PCR and FISH using FFPE tissue may be ancillary tools to confirm the diagnosis of HCCC.

AB - Hyalinizing clear cell carcinoma (HCCC) is a low-grade salivary gland carcinoma characterized by clear cells and hyalinized stroma. Recently, the EWSR1-ATF1 fusion gene was found in HCCCs. We herein describe three cases of HCCC identified in one male and two females, ranging in age from 27 to 67 years. The tumors were located in the root of tongue, nasopharynx, and soft palate. They were composed of nested or cord-like proliferations of epithelial cells with clear to pale eosinophilic cytoplasm, embedded in hyalinized and focally fibroedematous stroma. Tumor-associated lymphoid proliferation and pseudoepitheliomatous hyperplasia were also observed in each one case. MAML2 fusions specific to mucoepidermoid carcinoma were not detected in any of the three cases. We found EWSR1-ATF1 in two of three HCCCs using reverse transcription polymerase chain reaction (RT-PCR) with our original primer sets designed to detect the fusion gene transcripts in formalin-fixed paraffin-embedded (FFPE) tissues. EWSR1 rearrangement was also confirmed by fluorescence in situ hybridization (FISH) on FFPE sections in two cases. There was a good concordance between the two methods (two positive cases and one negative case by both RT-PCR and FISH). Therefore, RT-PCR and FISH using FFPE tissue may be ancillary tools to confirm the diagnosis of HCCC.

UR - http://www.scopus.com/inward/record.url?scp=84924855100&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84924855100&partnerID=8YFLogxK

U2 - 10.1007/s00428-014-1676-5

DO - 10.1007/s00428-014-1676-5

M3 - Article

C2 - 25359601

AN - SCOPUS:84924855100

VL - 466

SP - 37

EP - 43

JO - Virchows Archiv

JF - Virchows Archiv

SN - 0945-6317

IS - 1

ER -