Metaplastic thymoma is a rare histologic variant of thymic epithelial tumors and is characterized by a biphasic growth pattern. We herein report the case of 44-year-old woman who underwent surgery for metaplastic thymoma. Computed tomography scan revealed a well-circumscribed mediastinal tumor: 56 mm in diameter with homogenous enhancement. The tumor was suspected to be a non-invasive thymoma, and thymomectomy with resection of the surrounding thymus was performed using thoracoscopy. The resected tumor measured 60 mm and was grossly well-encapsulated. The cut surface was gray to white and homogenous. Microscopically, the epithelial components took the form of an anastomosing nest to broad trabeculae intertwining with the bundle of spindle cells. Mitosis was not found and the Ki-67 index was < 1%. Cytokeratin 5/6 was strongly positive in the epithelial components composed of polygonal cells. Terminal deoxynucleotidyl transferase positive immature T cells were not observed. Based on these pathologic findings, the tumor was identified as metaplastic thymoma.

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Article Synopsis
  • Metaplastic thymoma (MT) is a rare type of thymic tumor that has a specific genetic fusion (YAP1::MAML2), similar to skin tumors called poromas.
  • Recent studies revealed that MT lacks YAP1 C-terminus expression, but the expression of YAP1 N-terminus in MT and other thymic epithelial tumors (TETs) needed further exploration.
  • In an examination of 14 MT cases, it was found that MT consistently showed a distinct staining pattern (YAP1[N]-positive, YAP1[C]-negative), while other TETs like type B3 thymoma exhibited variable staining, highlighting the need for more research on YAP1's role
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Background: Metaplastic thymoma (MT), an exceedingly rare variant of primary thymic epithelial neoplasms, is distinguished by its indolent progression and unique histopathological profile. It presents a biphasic pattern characterized by solid epithelial and spindle cell components, potentially leading to diagnostic confusion with type A thymomas or the type A component of type AB thymomas. Accurate diagnosis is pivotal for optimal therapeutic strategies and prognostication.

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Squamous Cell Carcinoma Arising in YAP1::MAML2 Fusion-Associated Metaplastic Thymoma: A Case Report.

Int J Surg Pathol

July 2024

Department of Cellular Pathology, Guy's & St Thomas' NHS Foundation Trust, London, UK.

Metaplastic thymoma is a rare thymic neoplasm that has generally been considered to follow a benign to indolent clinical course; however, 3 metaplastic thymomas with high-grade malignant transformation to sarcomatoid carcinoma have been reported. In recent years, both conventional metaplastic thymomas and this subset showing malignant transformation have been associated with recurrent fusions. We report a metaplastic thymoma showing transformation to squamous cell carcinoma, that to our knowledge is the fourth reported in the literature with transition to overtly malignant features and the first showing pure carcinomatous transformation, and in which fusion was demonstrated via next generation sequencing.

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Metaplastic thymoma is a rare biphasic thymic tumor with indolent behavior and recurrent gene rearrangement. Although the diagnosis of this tumor is usually straightforward based on hematoxylin and eosin (H&E) findings alone, cases with scant spindle-cell ("pseudosarcomatous stroma") components can be easily confused with more commonly occurring type A thymoma. We present a case of metaplastic thymoma with a sparse stroma-like spindle-cell component, discussing its histological and immunohistochemical hints and drawing attention to the visual similarity to type A thymoma.

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The Role of Gene Fusions in Thymic Epithelial Tumors.

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November 2023

Department of Laboratory Medicine & Pathology, Mayo Clinic Rochester, Hilton 11, 200 First St SW, Rochester, MN 55905, USA.

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.

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