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

Int J Surg Pathol

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

Published: July 2024

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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http://dx.doi.org/10.1177/10668969241261541DOI Listing

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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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Article Synopsis
  • Metaplastic thymoma (MT) is a rare tumor characterized by a biphasic structure of solid epithelial and spindle cells, which can be confused with other thymoma types; thus, accurate diagnosis is essential for treatment.
  • A case of a 32-year-old woman with a mediastinal nodule revealed a biphasic architecture after surgical excision, and positive markers were noted through immunohistochemical analysis, confirming MT diagnosis.
  • The study emphasizes the importance of combining histopathological, immunohistochemical, and genetic analyses in diagnosing MT, with gene fusion detection via FISH analysis providing a valuable diagnostic tool.
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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.

View Article and Find Full Text PDF

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.

Cancers (Basel)

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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