A novel fusion gene CRTC3-MAML2 in hidradenoma

histopathological significance

研究成果: ジャーナルへの寄稿記事

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Hidradenoma usually presents as a solitary, slow-growing, and solid or cystic nodular lesion, which arises in various anatomical sites. Its diagnosis is occasionally difficult because the tumor shares histological features with other cutaneous appendage tumors. Recently, CRTC1-MAML2 fusion gene was reported in hidradenomas, with the fusion transcript being demonstrated in approximately 50% of cases. However, limited information is available regarding its clinical significance. Here, we investigated the relationship between the fusion gene and clinicohistopathological features. We reviewed 39 cases histologically diagnosed as hidradenoma. Reverse-transcription polymerase chain reaction (RT-PCR) was performed for all 39 cases, and fluorescence in situ hybridization was also performed for the RT-PCR–negative cases. The 39 tumors included 36 clear cell hidradenomas and 3 poroid hidradenomas. The details of the cellular components were as follows: clear cell–dominant type, 9 cases; polygonal cell–dominant type, 21 cases; and equally mixed type, 9 cases. There were no tumors with apparent mucinous cells. There were 8 tumors with prominent cystic change, 2 of which presented apocrine-like decapitated secretion. CRTC1-MAML2 fusion was detected in 10 of the 39 tumors (26%) and CRTC3-MAML2 fusion in 2 of the 39 (5%) by RT-PCR. MAML2 gene rearrangement was detected in 11 of 27 fusion gene–negative cases by fluorescence in situ hybridization. Moreover, neither the fusion genes nor gene rearrangement was detected in prominent cystic tumors and poroid hidradenomas. We conclude that CRTC1/3-MAML2 fusion gene analysis can be a useful method for diagnosing hidradenoma. Considering the histological and genetic similarity to mucoepidermoid carcinoma, hidradenoma may be a cutaneous counterpart of salivary gland mucoepidermoid carcinoma.

元の言語英語
ページ(範囲)55-61
ページ数7
ジャーナルHuman Pathology
70
DOI
出版物ステータス出版済み - 12 1 2017

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Acrospiroma
Gene Fusion
Neoplasms
Mucoepidermoid Carcinoma
Gene Rearrangement
Fluorescence In Situ Hybridization
Reverse Transcription
Polymerase Chain Reaction
Skin
Salivary Glands

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

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title = "A novel fusion gene CRTC3-MAML2 in hidradenoma: histopathological significance",
abstract = "Hidradenoma usually presents as a solitary, slow-growing, and solid or cystic nodular lesion, which arises in various anatomical sites. Its diagnosis is occasionally difficult because the tumor shares histological features with other cutaneous appendage tumors. Recently, CRTC1-MAML2 fusion gene was reported in hidradenomas, with the fusion transcript being demonstrated in approximately 50{\%} of cases. However, limited information is available regarding its clinical significance. Here, we investigated the relationship between the fusion gene and clinicohistopathological features. We reviewed 39 cases histologically diagnosed as hidradenoma. Reverse-transcription polymerase chain reaction (RT-PCR) was performed for all 39 cases, and fluorescence in situ hybridization was also performed for the RT-PCR–negative cases. The 39 tumors included 36 clear cell hidradenomas and 3 poroid hidradenomas. The details of the cellular components were as follows: clear cell–dominant type, 9 cases; polygonal cell–dominant type, 21 cases; and equally mixed type, 9 cases. There were no tumors with apparent mucinous cells. There were 8 tumors with prominent cystic change, 2 of which presented apocrine-like decapitated secretion. CRTC1-MAML2 fusion was detected in 10 of the 39 tumors (26{\%}) and CRTC3-MAML2 fusion in 2 of the 39 (5{\%}) by RT-PCR. MAML2 gene rearrangement was detected in 11 of 27 fusion gene–negative cases by fluorescence in situ hybridization. Moreover, neither the fusion genes nor gene rearrangement was detected in prominent cystic tumors and poroid hidradenomas. We conclude that CRTC1/3-MAML2 fusion gene analysis can be a useful method for diagnosing hidradenoma. Considering the histological and genetic similarity to mucoepidermoid carcinoma, hidradenoma may be a cutaneous counterpart of salivary gland mucoepidermoid carcinoma.",
author = "Yuki Kuma and Yuichi Yamada and Hidetaka Yamamoto and Kenichi Kouhashi and Takamichi Ito and Masutaka Furue and Yoshinao Oda",
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T1 - A novel fusion gene CRTC3-MAML2 in hidradenoma

T2 - histopathological significance

AU - Kuma, Yuki

AU - Yamada, Yuichi

AU - Yamamoto, Hidetaka

AU - Kouhashi, Kenichi

AU - Ito, Takamichi

AU - Furue, Masutaka

AU - Oda, Yoshinao

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AB - Hidradenoma usually presents as a solitary, slow-growing, and solid or cystic nodular lesion, which arises in various anatomical sites. Its diagnosis is occasionally difficult because the tumor shares histological features with other cutaneous appendage tumors. Recently, CRTC1-MAML2 fusion gene was reported in hidradenomas, with the fusion transcript being demonstrated in approximately 50% of cases. However, limited information is available regarding its clinical significance. Here, we investigated the relationship between the fusion gene and clinicohistopathological features. We reviewed 39 cases histologically diagnosed as hidradenoma. Reverse-transcription polymerase chain reaction (RT-PCR) was performed for all 39 cases, and fluorescence in situ hybridization was also performed for the RT-PCR–negative cases. The 39 tumors included 36 clear cell hidradenomas and 3 poroid hidradenomas. The details of the cellular components were as follows: clear cell–dominant type, 9 cases; polygonal cell–dominant type, 21 cases; and equally mixed type, 9 cases. There were no tumors with apparent mucinous cells. There were 8 tumors with prominent cystic change, 2 of which presented apocrine-like decapitated secretion. CRTC1-MAML2 fusion was detected in 10 of the 39 tumors (26%) and CRTC3-MAML2 fusion in 2 of the 39 (5%) by RT-PCR. MAML2 gene rearrangement was detected in 11 of 27 fusion gene–negative cases by fluorescence in situ hybridization. Moreover, neither the fusion genes nor gene rearrangement was detected in prominent cystic tumors and poroid hidradenomas. We conclude that CRTC1/3-MAML2 fusion gene analysis can be a useful method for diagnosing hidradenoma. Considering the histological and genetic similarity to mucoepidermoid carcinoma, hidradenoma may be a cutaneous counterpart of salivary gland mucoepidermoid carcinoma.

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