Identification of CTNNB1-PLAG1 gene rearrangement in a patient with pulmonary pleomorphic adenoma
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Identification of CTNNB1-PLAG1 gene rearrangement in a patient with pulmonary pleomorphic adenoma Miki Asahina 1 & Takuo Hayashi 1 & Kazuya Takamochi 2 & Tsuyoshi Saito 1 & Hiroko Onagi 1 & Monami Kishi 1 & Yuki Fukumura 1 & Atsushi Arakawa 1 & Kenji Suzuki 2 & Takashi Yao 1 Received: 6 March 2020 / Revised: 25 March 2020 / Accepted: 29 March 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Pulmonary pleomorphic adenoma (PA) is a rare salivary gland-type neoplasm, which predominantly occurs in the proximal airway. Rearrangement of the pleomorphic adenoma gene 1 (PLAG1) is the most frequent genetic event in PAs of salivary glands. However, whether pulmonary PA also harbors PLAG1 rearrangement has not been elucidated. Here, we present a case of pulmonary PA, located at the middle lobar bronchus, in a 54-year-old man. CTNNB1-PLAG1 gene fusion was identified by reverse transcription-polymerase chain reaction using formalin-fixed paraffin-embedded tissue (FFPE). Furthermore, immunohistochemical analysis revealed nuclear expression of PLAG1 in all tumor cells. To the best of our knowledge, this is the first reported case of pulmonary PA with CTNNB1-PLAG1 fusion and PLAG1 expression. Our case illustrates the possibility that pulmonary PA could be underpinned by recurrent PLAG1 translocations akin to salivary gland PA. Keywords Pulmonary pleomorphic adenoma . PLAG1 . CTNNB1-PLAG1 fusion
Introduction Pleomorphic adenoma (PA) is the most common benign tumor of the salivary gland, and it is a slowly growing tumor and with recurrence rate of 1–5% after appropriate excision. Salivary gland-type neoplasms of the lungs constitute a rare primary lung tumor entity [1]. Although morphologically similar, the rate of incidence of salivary gland-type neoplasms in the lungs differs significantly from that in the salivary glands. While PA is the most common benign tumor in salivary glands, its incidence in the lungs is extremely rare with only 45 reported cases so far [2]. Histologically, both the salivary gland and pulmonary PAs are composed typically of the Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00428-020-02810-y) contains supplementary material, which is available to authorized users. * Takuo Hayashi [email protected]
following three components at various proportions: epithelial/ductal cells, myoepithelial cells, and myxoid/ chondroid stroma. In salivary glands, PA is frequently characterized by the recurrent chromosomal rearrangements of the pleomorphic adenoma gene 1 (PLAG1) and high-mobility group AT-hook 2 (HMGA2) genes, resulting in overexpression of PLAG1 and HMGA2 proteins, respectively [3–5]. However, it is not clear whether PLAG1 and HMGA2 gene rearrangements are also found in pulmonary PA. Due to the paucity of clinical cases, there have been no reports so far on the genetic studies examining PLAG1 and HMGA2 fusions in pulmonary PA. Here, we describe, for the first time, a case of pulmonary PA which harbored CTNNB1-PLAG1 fus
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