The Desmoid Tumor Research Foundation

June 2020

Resection of a Desmoid-Type Fibromatosis With a CTNNB1 p.S45P Mutation Using a Cervico-Thoracic Approach: A Case Report and Literature Review

Author Information

Ryosuke Sato (1), Nobuyuki Bandoh (2), Takashi Goto (2), Akihiro Uemura (2), Nobuyuki Inoue (3), Yuki Otomo (3), Hiroshi Nakano (4), Tomomi Yamaguchi (4), Yasutaka Kato (4), Hiroshi Nishihara (5), Hidehiro Takei (6), Yasuaki Harabuchi (7).

(1)Dept of Otolaryngology-Head and Neck Surgery, Hokuto Hosp, Obihiro, JP; Dept of Otolaryngology-Head and Neck Surgery, Asahikawa Medical Univ, Asahikawa, JP. (2)Dept of Otolaryngology-Head and Neck Surgery, Hokuto Hosp, Obihiro, JP. (3)Dept of Cardiovascular Surgery, Hokuto Hosp, Obihiro, JP. (4)Dept of Pathology, Hokuto Hosp, Obihiro, JP. (5)Keio Cancer Center, Keio Univ School of Medicine, Tokyo, JP. (6)Dept of Surgical Pathology, Asahikawa Medical Univ Hosp, Asahikawa, JP. (7)Dept of Otolaryngology-Head and Neck Surgery, Asahikawa Medical Univ, Asahikawa, JP.

Publication

Auris Nasus Larynx

Summary

A 73-year-old Japanese male complained of a painless, left anterior neck mass of 3-month duration. Computed tomography revealed the mass measured 9 × 7 × 6 cm and extended to the anterior mediastinum, with invasion of the left clavicle. En bloc resection of the tumor with the left sternoclavicular joint and the medial portion of the left clavicle was performed by cervico-thoracic approach with L-shaped partial sternotomy. Histopathologic examination showed fascicular growth of spindle-shaped cells separated by abundant collagen. Immunohistologic examination revealed nuclear staining of Beta-catenin and cytoplasmic staining of vimentin. Genetic analysis of 160 cancer-related genes by next-generation sequencing (NGS) demonstrated only a missense mutation in the CTNNB1 gene (c.133T>C, p.S45P). DF extending from the neck to the anterior mediastinum is rare. We report the complete resection of a large-sized DF with the clavicular invasion. A low-frequency CTNNB1 mutation of DF was identified. Genetic analysis with NGS was beneficial for the diagnosis.

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