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Long read sequencing identifies complex structural variant landscape and recurrent TERT rearrangements in mucoepidermoid carcinoma.

Oral Oncol

December 2024

Department of Otolaryngology - Head and Neck Surgery, University of Michigan, Ann Arbor, MI, USA; Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, MI, USA; Department of Pharmacology, University of Michigan, Ann Arbor, MI, USA; Rogel Cancer Center, University of Michigan, Ann Arbor, MI, USA. Electronic address:

Article Synopsis
  • * Recent research used advanced genetic sequencing techniques to uncover a new fusion gene (CRTC1::MAML2) and a surprising rearrangement of the MAML2 gene to MYBL1, hinting at MYBL1's potential role in salivary gland cancers.
  • * The study also found that TERT gene rearrangements and amplifications are common in MEC tumors, with TERT playing a crucial role in tumor growth, as demonstrated
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Article Synopsis
  • Mucoepidermoid carcinoma (MEC) is the most prevalent malignant tumor of the salivary glands, primarily affecting females in their 40s and 50s, with the parotid gland being the most common site.
  • The study examined 454 cases, highlighting that 414 patients were alive without relapse after an average of 62 months, while 40 experienced disease progression, often with the lungs as the main site of metastasis.
  • Key findings indicate that specific histological gradings are linked to cancer recurrence and spread, with mutations in BAP1 and other genes correlating to aggressive forms of the disease, providing insights for targeted therapies.
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Genomics and tumor microenvironment of breast mucoepidermoid carcinoma based on whole-exome and RNA sequencing.

Diagn Pathol

January 2024

Department of Pathology, Guangdong Provincial People's Hospital/Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.

Article Synopsis
  • Mammary mucoepidermoid carcinoma (MEC) is a rare type of breast cancer that hasn't been studied much because it is so uncommon.
  • The researchers looked at 1,000 breast cancer patients and found four cases of breast MEC, which they diagnosed and studied using various scientific methods.
  • All four patients were alive and had good health after treatment, and the tumors showed some specific genetic characteristics that are also found in other types of breast cancer.
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Patients with advanced/recurrent mucoepidermoid carcinoma (MEC) have a poor prognosis. This study aimed to establish and characterize human mucoepidermoid carcinoma cell lines from the initial surgical specimen and biopsy specimen upon recurrence from the same patient to provide a resource for MEC research. MEC specimens from the initial surgical procedure and biopsy upon recurrence were used to establish cell lines.

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Salivary gland neoplasms comprise a heterogeneous group of lesions with multiple histological subtypes, each with distinct growth patterns, resulting in a spectrum of tumor-specific prognoses; pleomorphic adenoma (PA) and mucoepidermoid carcinoma (MEC) are the most common representatives of these neoplasms. Many studies have associated specific profiles of membrane and adhesion molecules in salivary gland tissues; these profiles appear to be relevant in tumor biology as well as be interpreted as fingerprints for tumor classification, diagnostic prognostic and therapeutic targets. One of these membrane molecule complexes are the tight junctions, composed by various proteins, in which claudins are protagonists.

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