Expanding the Clinicopathologic Spectrum of YAP1::MAML2–Rearranged Thymic Neoplasm

Kim, Eric Eunshik; Suh, Ye Yoon; Lee, Sang Won; Bae, Jeong Mo; Lee, Kyuho; Lee, Sungyoung; Yun, Hongseok; Jung, Kyeong Cheon; Koh, Jiwon

doi:10.1016/j.modpat.2022.100048

Cited by 6 publications

(3 citation statements)

References 9 publications

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“…The tumor had metastasized to a cervical lymph node and the lung. Sequencing revealed YAP1::MAML2 fusion in both components, a TP53 mutation in the carcinomatous and deep deletions of CDKN2A and CDKN2B in the sarcomatous component [31]. These two cases suggest that YAP1::MAML2 rearrangements may not only be found in pure metaplastic thymomas but also in more aggressive biphasic mediastinal tumors.…”

Section: Maml2 Rearrangementsmentioning

confidence: 82%

“…Recently, expression of YAP1-C terminus by immunohistochemistry has been shown to be highly sensitive and specific for metaplastic thymoma when evaluated in the context of other TET, including type A, AB, B1, B2, and B3 thymomas, and thymic carcinomas [7]. Recently, two additional patients with mediastinal tumors with YAP1::MAML2 rearrangements were reported that followed a more aggressive clinical course [31]. One patient had a 9.8 cm mass invading the pericardium, right lung, and pulmonary artery and Both the epithelial and spindle cell component of metaplastic thymomas were considered to be of neoplastic nature by at least some authors, although molecular evidence was lacking [26].…”

Section: Maml2 Rearrangementsmentioning

confidence: 99%

“…Recently, two additional patients with mediastinal tumors with YAP1::MAML2 rearrangements were reported that followed a more aggressive clinical course [31]. One patient had a 9.8 cm mass invading the pericardium, right lung, and pulmonary artery and vein.…”

Section: Maml2 Rearrangementsmentioning

confidence: 99%

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The Role of Gene Fusions in Thymic Epithelial Tumors

Roden

2023

Cancers

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Thymic epithelial tumors (TET) are rare and large molecular studies are therefore difficult to perform. However, institutional case series and rare multi-institutional studies have identified a number of interesting molecular aberrations in TET, including gene fusions in a subset of these tumors. These gene fusions can aid in the diagnosis, shed light on the pathogenesis of a subset of tumors, and potentially may provide patients with the opportunity to undergo targeted therapy or participation in clinical trials. Gene fusions that have been identified in TET include MAML2 rearrangements in 50% to 56% of mucoepidermoid carcinomas (MAML2::CRTC1), 77% to 100% of metaplastic thymomas (YAP1::MAML2), and 6% of B2 and B3 thymomas (MAML2::KMT2A); NUTM1 rearrangements in NUT carcinomas (most commonly BRD4::NUTM1); EWSR1 rearrangement in hyalinizing clear cell carcinoma (EWSR1::ATF1); and NTRK rearrangement in a thymoma (EIF4B::NTRK3). This review focuses on TET in which these fusion genes have been identified, their morphologic, immunophenotypic, and clinical characteristics and potential clinical implications of the fusion genes. Larger, multi-institutional, global studies are needed to further elucidate the molecular characteristics of these rare but sometimes very aggressive tumors in order to optimize patient management, provide patients with the opportunity to undergo targeted therapy and participate in clinical trials, and to elucidate the pathogenesis of these tumors.

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Section: Maml2 Rearrangementsmentioning

confidence: 82%