Metastatic Thymic Mucoepidermoid Carcinoma: The Diagnostic Challenges and Role of CRTC1/MAML2 Translocation in Accurate Diagnosis and Treatment
ABSTRACT Mucoepidermoid carcinoma (MEC) is a subtype of epithelial neoplasms commonly found in salivary glands, but can also be seen in the thymus. Diagnosing MEC of the thymus is sometimes challenging due to its histological similarities with adenosquamous carcinoma (ASC). This case report describe...
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| Format: | Article |
| Language: | English |
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Wiley
2025-01-01
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| Series: | Thoracic Cancer |
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| Online Access: | https://doi.org/10.1111/1759-7714.70001 |
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| author | Toshiaki Takahashi Daniel Graham Evan Wu |
| author_facet | Toshiaki Takahashi Daniel Graham Evan Wu |
| author_sort | Toshiaki Takahashi |
| collection | DOAJ |
| description | ABSTRACT Mucoepidermoid carcinoma (MEC) is a subtype of epithelial neoplasms commonly found in salivary glands, but can also be seen in the thymus. Diagnosing MEC of the thymus is sometimes challenging due to its histological similarities with adenosquamous carcinoma (ASC). This case report describes a 64‐year‐old female with a history of metastatic endometrial adenocarcinoma who presented to an oncology clinic with a thymic mass as well as multiple mass lesions in the liver, bone, and abdominal wall. Initially diagnosed as thymic ASC based on histopathology, further genomic profiling revealed a CRTC1/MAML2 translocation, leading to the diagnosis of metastatic MEC of the thymus. Comprehensive genomic testing played a crucial role in distinguishing MEC from ASC. This case highlights the importance of genetic testing in cases of uncertain primary origins and in differentiating between morphologically similar tumors. |
| format | Article |
| id | doaj-art-53af2aefcd52425994e0bbfc0f3493b6 |
| institution | Kabale University |
| issn | 1759-7706 1759-7714 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Thoracic Cancer |
| spelling | doaj-art-53af2aefcd52425994e0bbfc0f3493b62025-01-30T22:40:35ZengWileyThoracic Cancer1759-77061759-77142025-01-01162n/an/a10.1111/1759-7714.70001Metastatic Thymic Mucoepidermoid Carcinoma: The Diagnostic Challenges and Role of CRTC1/MAML2 Translocation in Accurate Diagnosis and TreatmentToshiaki Takahashi0Daniel Graham1Evan Wu2Department of Medicine, John A. Burns School of Medicine University of Hawaii Honolulu Hawaii USAHawaii Pacific Health Honolulu Hawaii USADepartment of Medicine, John A. Burns School of Medicine University of Hawaii Honolulu Hawaii USAABSTRACT Mucoepidermoid carcinoma (MEC) is a subtype of epithelial neoplasms commonly found in salivary glands, but can also be seen in the thymus. Diagnosing MEC of the thymus is sometimes challenging due to its histological similarities with adenosquamous carcinoma (ASC). This case report describes a 64‐year‐old female with a history of metastatic endometrial adenocarcinoma who presented to an oncology clinic with a thymic mass as well as multiple mass lesions in the liver, bone, and abdominal wall. Initially diagnosed as thymic ASC based on histopathology, further genomic profiling revealed a CRTC1/MAML2 translocation, leading to the diagnosis of metastatic MEC of the thymus. Comprehensive genomic testing played a crucial role in distinguishing MEC from ASC. This case highlights the importance of genetic testing in cases of uncertain primary origins and in differentiating between morphologically similar tumors.https://doi.org/10.1111/1759-7714.70001comprehensive genomic profilingmucoepidermoid carcinomathymic cancer |
| spellingShingle | Toshiaki Takahashi Daniel Graham Evan Wu Metastatic Thymic Mucoepidermoid Carcinoma: The Diagnostic Challenges and Role of CRTC1/MAML2 Translocation in Accurate Diagnosis and Treatment Thoracic Cancer comprehensive genomic profiling mucoepidermoid carcinoma thymic cancer |
| title | Metastatic Thymic Mucoepidermoid Carcinoma: The Diagnostic Challenges and Role of CRTC1/MAML2 Translocation in Accurate Diagnosis and Treatment |
| title_full | Metastatic Thymic Mucoepidermoid Carcinoma: The Diagnostic Challenges and Role of CRTC1/MAML2 Translocation in Accurate Diagnosis and Treatment |
| title_fullStr | Metastatic Thymic Mucoepidermoid Carcinoma: The Diagnostic Challenges and Role of CRTC1/MAML2 Translocation in Accurate Diagnosis and Treatment |
| title_full_unstemmed | Metastatic Thymic Mucoepidermoid Carcinoma: The Diagnostic Challenges and Role of CRTC1/MAML2 Translocation in Accurate Diagnosis and Treatment |
| title_short | Metastatic Thymic Mucoepidermoid Carcinoma: The Diagnostic Challenges and Role of CRTC1/MAML2 Translocation in Accurate Diagnosis and Treatment |
| title_sort | metastatic thymic mucoepidermoid carcinoma the diagnostic challenges and role of crtc1 maml2 translocation in accurate diagnosis and treatment |
| topic | comprehensive genomic profiling mucoepidermoid carcinoma thymic cancer |
| url | https://doi.org/10.1111/1759-7714.70001 |
| work_keys_str_mv | AT toshiakitakahashi metastaticthymicmucoepidermoidcarcinomathediagnosticchallengesandroleofcrtc1maml2translocationinaccuratediagnosisandtreatment AT danielgraham metastaticthymicmucoepidermoidcarcinomathediagnosticchallengesandroleofcrtc1maml2translocationinaccuratediagnosisandtreatment AT evanwu metastaticthymicmucoepidermoidcarcinomathediagnosticchallengesandroleofcrtc1maml2translocationinaccuratediagnosisandtreatment |