EGFR L861Q mutation is a frequent feature of pulmonary mucoepidermoid carcinoma

Shanghai Lung Cancer Center, Chest Hospital Affiliated to Shanghai Jiaotong University, 241 West Huaihai Road, Xuhui District, Shanghai 200030, China.
Journal of Cancer Research and Clinical Oncology (Impact Factor: 3.08). 04/2012; 138(8):1421-5. DOI: 10.1007/s00432-012-1211-5
Source: PubMed


The purpose of this study is to assess the feasibility of targeted treatment for pulmonary mucoepidermoid carcinoma (PMEC) by investigating track record of the epidermal growth factor receptor (EGFR) mutation status in PMEC.
From January 2001 to December 2009, 20 PMEC patients (11 males and 9 females) received treatment in our center. All the patients received surgery and were diagnosed by pathology. Sequencing analysis was used to monitor exons 18-21 of the EGFR gene mutation.
The exon 21 L861Q heterozygous mutation was confirmed in five patients. There was no case with any deletion in exon 19 or exon 21 L858R mutation. One case was with a homonymy exon 18 mutation (I760I). Exon 20 G2607A (Q787Q) SNP was found in 12 of those 20 patients.
L861Q mutation in exon 21 is the most frequent feature of heterozygous mutation in our study. Further investigations will be required to validate our findings.

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    • "Two of the three cases also exhibited high levels of EGFR polysomy by fluorescence in situ hybridization (FISH) and EGFR overexpression by immunohistochemistry. In another study, Yu et al. identified a heterozygous exon 21 leucine to glutamine mutation (L861Q) in five of twenty MEC tumors collected over nine years [15]. No deletions in exon 19 or exon 21, as typically seen in nonsmall cell lung cancer, were detected. "
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    ABSTRACT: Introduction. Mucoepidermoid carcinoma (MEC) of the lung is a rare form of lung cancer that is classified into low grade and high grade based on histological features. Surgical resection is the primary treatment for low-grade MEC with excellent outcomes, while high-grade MEC is a more aggressive form of malignancy. Clinical Case. We report a case of a 46-year-old woman who presented with dyspnea on exertion. Imaging studies revealed a mass involving the right upper lobe bronchus. Bronchoscopy, surgical resection, and pathological examination revealed a low-grade MEC with tumor-free margins. No adjuvant treatment was given. Discussion. Primary pulmonary MEC is a rare type of lung cancer with only few reported cases. This patient illustrates a typical presentation for low-grade MEC wherein surgical resection is considered curative. In contrast, high-grade MEC is a more aggressive malignancy with a poorer outcome. The role of targeted therapy directed against EGFR or a novel CRTC1-MAML2 fusion protein expressed in some high-grade tumors is yet to be determined.
    Case Reports in Oncological Medicine 11/2013; 2013(4):625243. DOI:10.1155/2013/625243

  • Lung cancer (Amsterdam, Netherlands) 08/2012; 78(1):125-6. DOI:10.1016/j.lungcan.2012.07.006 · 3.96 Impact Factor
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    ABSTRACT: Background Mucoepidermoid carcinoma (MEC) of the lung is a rare subtype of non-small cell lung cancer. There is no consensus regarding optimal management for this disease. Case report We present a case of MEC of the lung in a 75 year-old female with a history of superficial urothelial carcinoma of the bladder. The patient was found to have an asymptomatic lung mass. Initial biopsy suggested metastatic recurrence of urothelial carcinoma and therefore, cisplatin and gemcitabine chemotherapy was administered prior to surgical resection. Pathological analysis of the resected specimen confirmed a diagnosis of stage IIIA MEC with focal high-grade features including transitional cell-like areas. Adjuvant radiotherapy was administered due to a positive microscopic resection margin. No chemotherapy was given due to lack of supporting data. The patient developed widespread metastatic disease 3 months following completion of radiotherapy and died 1 month later. Conclusion This case demonstrates the possibility of dual pathology in cases where metastatic disease is suspected. The use of small tissue samples may complicate diagnosis due to the heterogeneity of malignant tumours.
    Reports of Practical Oncology and Radiotherapy 01/2013; 19(1). DOI:10.1016/j.rpor.2013.07.004
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