TY - JOUR
T1 - Resection of a desmoid-type fibromatosis with a CTNNB1 p.S45P mutation using a cervico-thoracic approach
T2 - A case report and literature review
AU - Sato, Ryosuke
AU - Bandoh, Nobuyuki
AU - Goto, Takashi
AU - Uemura, Akihiro
AU - Inoue, Nobuyuki
AU - Otomo, Yuki
AU - Nakano, Hiroshi
AU - Yamaguchi, Tomomi
AU - Kato, Yasutaka
AU - Nishihara, Hiroshi
AU - Takei, Hidehiro
AU - Harabuchi, Yasuaki
N1 - Funding Information:
We would like to thank Forte Scientific Communications (www.fortescience.com) for editorial assistance. This material has not been published in whole or in part elsewhere. All authors have been personally and actively involved in substantive work leading to the manuscript and will hold themselves jointly and individually responsible for its content. All procedures performed on patient tumor samples in this study were conducted in accordance with the ethical standards of the Institute Ethics Committee and the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. Written informed consent for publication of clinical details and images was obtained from the patient and his family. The authors declare that no financial or other conflict of interest exists in relation to the content of this paper. RS, TG, AU, NI and YO provided surgery and bedside care. HNa, YK and HNi performed mutational analyses. TY and HT performed pathologic investigations. RS and NB drafted the manuscript. YH conceived the study design. All authors approved the final version of the manuscript.
Publisher Copyright:
© 2020
PY - 2021/8
Y1 - 2021/8
N2 - Desmoid-type fibromatosis (DF) is a rare, locally infiltrative, and fibroblastic proliferative disease. DF usually arises from abdominal fascial tissue, but in rare cases, it can occur in extra-abdominal areas. 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 β-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.
AB - Desmoid-type fibromatosis (DF) is a rare, locally infiltrative, and fibroblastic proliferative disease. DF usually arises from abdominal fascial tissue, but in rare cases, it can occur in extra-abdominal areas. 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 β-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.
KW - CTNNB1
KW - Cervico-thoracic approach
KW - Clavicle
KW - Desmoid-type fibromatosis
KW - L-shaped partial sternotomy
KW - Next-generation sequencing
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U2 - 10.1016/j.anl.2020.05.004
DO - 10.1016/j.anl.2020.05.004
M3 - Article
C2 - 32505607
AN - SCOPUS:85085772850
SN - 0385-8146
VL - 48
SP - 777
EP - 782
JO - Auris Nasus Larynx
JF - Auris Nasus Larynx
IS - 4
ER -
