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<p>Mucoepidermoid carcinoma (MEC) is the most common malignant neoplasm in the major and minor salivary glands and typically composed of mucinous, intermediate (clear cell) and squamoid cells, forming cystic or solid patterns. The Armed Forces Institute of Pathology (AFIP) and Brandwein system divide MEC into low grade (G1), intermediate (G2) and high grade (G3). MEC is characterized by the presence of a recurrent translocation, t(11;19)(q21;p13.1) leading to CRTC1-MAML2 gene fusion. However, there is paucity of data from India, using FISH for MAML2 gene arrangement. This is an observational study conducted in a tertiary care oncology centre. A total of 40 cases diagnosed with MEC were enrolled in this study from January 2021-June 2023. All the cases were subjected to FISH which performed using ZytoLight SPEC MAML2 Dual Color Break Apart Probe. The median age of the 40 patients enrolled in this study was 46&#xa0;years (14—85&#xa0;years). There was a male preponderance with male: female ratio of 2.07:1. Parotid gland involvement was seen in 82.5% (n = 33) and 5% (n = 2) showed submandibular gland involvement. The remaining 12.5% (n = 5) showed involvement of minor salivary glands of buccal mucosa, hard palate or larynx. Out of 40 patients studied low grade comprised 40% (n = 16), 15% (n = 6) showed intermediate grade and 45% (n = 18) were classified as high grade according to AFIP grading system and 22.5% (n = 9) showed low grade, 7.5% (n = 3) showed intermediate grade and 70% (n = 28) showed high grade according to Brandwein grading system. 67.5% (n = 27) showed similar grading using AFIP and Brandwein grading systems with strong Spearman correlation of r = 0.75. Interpretable FISH results were obtained in 62.5% (n = 25) of the 40 cases studied. Out of these, 52% (n = 13) showed breakapart signals and were positive for MAML2 gene rearrangement and 48% (n = 12) were negative. Tumors which were low grade by AFIP grading system had a strong association with MAML2 gene rearrangement whereas all the tumors which were low grade by Brandwein grading system were positive for MAML2 gene rearrangement. Diagnosis of MEC by morphology can be graded both by AFIP or Brandwein grading systems and they have a high concordance of 67.5%. MAML2 gene rearrangement was present in 52% of the cases with interpretable FISH results. MAML2 gene rearrangement by FISH is a useful adjunct for diagnosis and has a statistically significant association with low grade tumors.</p>

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Diagnostic and Prognostic Utility of MAML2 Gene Rearrangement in Mucoepidermoid Carcinoma of Salivary Glands and Its Correlation with Histologic Grading Systems

  • 期刊论文

  • 发表日期：

    2026年1月29日

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  • Akshara Ravichandran,
  • Daphne Fonseca,
  • Sahithi Shilpa Arya,
  • G. Sandhya Devi,
  • Suseela Kodandapani,
  • Chandrasekhara Rao,
  • T. Subramanyeshwar Rao

摘要

Mucoepidermoid carcinoma (MEC) is the most common malignant neoplasm in the major and minor salivary glands and typically composed of mucinous, intermediate (clear cell) and squamoid cells, forming cystic or solid patterns. The Armed Forces Institute of Pathology (AFIP) and Brandwein system divide MEC into low grade (G1), intermediate (G2) and high grade (G3). MEC is characterized by the presence of a recurrent translocation, t(11;19)(q21;p13.1) leading to CRTC1-MAML2 gene fusion. However, there is paucity of data from India, using FISH for MAML2 gene arrangement. This is an observational study conducted in a tertiary care oncology centre. A total of 40 cases diagnosed with MEC were enrolled in this study from January 2021-June 2023. All the cases were subjected to FISH which performed using ZytoLight SPEC MAML2 Dual Color Break Apart Probe. The median age of the 40 patients enrolled in this study was 46 years (14—85 years). There was a male preponderance with male: female ratio of 2.07:1. Parotid gland involvement was seen in 82.5% (n = 33) and 5% (n = 2) showed submandibular gland involvement. The remaining 12.5% (n = 5) showed involvement of minor salivary glands of buccal mucosa, hard palate or larynx. Out of 40 patients studied low grade comprised 40% (n = 16), 15% (n = 6) showed intermediate grade and 45% (n = 18) were classified as high grade according to AFIP grading system and 22.5% (n = 9) showed low grade, 7.5% (n = 3) showed intermediate grade and 70% (n = 28) showed high grade according to Brandwein grading system. 67.5% (n = 27) showed similar grading using AFIP and Brandwein grading systems with strong Spearman correlation of r = 0.75. Interpretable FISH results were obtained in 62.5% (n = 25) of the 40 cases studied. Out of these, 52% (n = 13) showed breakapart signals and were positive for MAML2 gene rearrangement and 48% (n = 12) were negative. Tumors which were low grade by AFIP grading system had a strong association with MAML2 gene rearrangement whereas all the tumors which were low grade by Brandwein grading system were positive for MAML2 gene rearrangement. Diagnosis of MEC by morphology can be graded both by AFIP or Brandwein grading systems and they have a high concordance of 67.5%. MAML2 gene rearrangement was present in 52% of the cases with interpretable FISH results. MAML2 gene rearrangement by FISH is a useful adjunct for diagnosis and has a statistically significant association with low grade tumors.