The Desmoid Tumor Research Foundation

October 2018

Is immunohistochemical staining for beta-catenin the definitive pathological diagnostic tool for desmoid-type fibromatosis?: a multi-institutional study.

Author Information

Koike H(1), Nishida Y(2), Kohno K(3), Shimoyama Y(3), Motoi T(4), Hamada S(5), Kawai A(6), Ogose A(7), Ozaki T(8), Kunisada T(9), Matsumoto Y(10), Matsunobu T(11), Ae K(12), Gokita T(13), Sakai T(1), Shimizu K(1), Ishiguro N(1).

(1)Dept of Orthopedic Surgery, Nagoya Univ Graduate School of Medicine, 65 Tsurumai, Showa, Nagoya, Aichi, 466-8550, Japan.c(2)Dept of Rehabilitation, Nagoya Univ Hospital, 65 Tsurumai, Showa, Nagoya, Aichi, 466-8550, Japan. (3)Dept of Pathology and Laboratory Medicine, Nagoya Univ Hospital, 65 Tsurumai, Showa, Nagoya, Aichi, 466-8550, Japan. (4)Dept of Pathology, Tokyo, Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo, 113-8677, Japan. (5)Dept of Orthopedic Surgery, Aichi, Cancer Center Hospital, 1-1 Kanokoden, Chikusa-ku, Nagoya, Nagoya, 464-8681, Japan. (6)Dept of Musculoskeletal Oncology, National Cancer Center Hospital, 5-1-1cTsukiji, Chuo-ku, Tokyo, 104-0045, Japan. (7)Dept of Orthopedic Surgery, Uonuma Institute of Community Medicine, Niigata Univ Medical and Dental Hospital, 4132 Urasa, Minamiuonuma, Niigata 949-7320, Japan. (8)Dept of Orthopedic Surgery, Okayama Univ Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, 2-5-1 Shikatacho, Kita-ku, Okayama, 700-8558, Japan. (9)Dept of Medical Materials for Musculoskeletal Reconstruction, Okayama Univ Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, 2-5-1 Shikatacho, Kita-ku, Okayama, 700-8558, Japan. (10)Dept of Orthopedic Surgery, Kyushu Univ, 3-1-1, Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan. (11)Dept of Orthopedic Surgery, Kyushu Rosai Hospital, 1-1, Sonekitacho, Kokuraminami-ku, Kitakyushu, Fukuoka, 800-0296, Japan. (12)Dept of Orthopedic Surgery, Cancer Institute Hospital, 3-8-31, Ariake, Koto-ku, Tokyo, 135-8550, Japan. (13)Dept of Orthopedic Surgery, Saitama, Cancer Center, 780, Komuro, Inacho, Kitaadachigun, Saitama, 362-0806, Japan.

Publication

Ir Med J

Summary

The purpose of this study is to clarify the relationship of the staining pattern of beta-catenin with the CTNNB1 mutation status and various clinical variables, and investigate the significance of immunohistochemical staining of beta-catenin in cases diagnosed with DF. Between 1997 and 2017, 104 cases diagnosed with DF from 6 institutions in Japan were enrolled in this study. For all cases, immunohistochemical staining of beta-catenin and gene mutation analysis of CTNNB1 were performed. Of 104 cases, 87 (84%) showed nuclear staining of beta-catenin, and 95 (91%) positive staining in cytoplasm. The proportion of cases showing strong nuclear staining of beta-catenin was significantly higher in the cases with S45F than in those with T41A or wild type (WT). The proportion of cases stained strongly in the cytoplasm rather than in the nucleus was significantly higher in the group of T41A than that of S45F or WT. Among 17 cases in which nuclear immunostaining were absent, CTNNB1 mutation was observed in 5 cases (29.4%). There were unignorable cases of DF with negative beta-catenin immunostaining despite a definitive clinical and pathological diagnosis of DF and/or positive CTNNB1 mutation.

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