Molecular genetic profiling of a rare case of primary pulmonary adenoid cystic carcinoma: Insights from whole exome sequencing and literature review
Background: Primary pulmonary adenoid cystic carcinoma (PPACC) is a rare neoplasm characterized by slow growth and low malignancy. Aim: The study seeks to enhance understanding of PPACC through comprehensive analysis of a reported case, incorporating pathological diagnosis, immunohistochemistry, spe...
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Elsevier
2025-01-01
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| Series: | Respiratory Medicine Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007125000346 |
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| author | Jianhao Xu Fang Cao Liqian Yao Jingfeng Gu Lanfen Pan Jiarui Min Zijie Xu Jihao Su Zhiyong Deng Song Xu |
| author_facet | Jianhao Xu Fang Cao Liqian Yao Jingfeng Gu Lanfen Pan Jiarui Min Zijie Xu Jihao Su Zhiyong Deng Song Xu |
| author_sort | Jianhao Xu |
| collection | DOAJ |
| description | Background: Primary pulmonary adenoid cystic carcinoma (PPACC) is a rare neoplasm characterized by slow growth and low malignancy. Aim: The study seeks to enhance understanding of PPACC through comprehensive analysis of a reported case, incorporating pathological diagnosis, immunohistochemistry, special staining, and molecular alterations identified via whole exome sequencing. Methods: A retrospective analysis was conducted on a PPACC case treated at the institution, encompassing pathological examination, immunohistochemical profiling, special staining techniques, and molecular alterations revealed by whole exome sequencing. Results: A 56-year-old male presented with a left lower lobe mass identified on chest CT during a routine health check. Clinical evaluation revealed dyspnea, and imaging showed a 25 × 18 mm nodule in the left lower lobe. Video-assisted thoracoscopic surgery was performed for left lower lobectomy, with intraoperative frozen pathology indicating a salivary gland-type tumor (2.5 × 2 × 1.7 cm). ENT examination and cervical MRI ruled out a primary salivary gland tumor. Routine paraffin-embedded pathology confirmed pulmonary adenoid cystic carcinoma without pleural invasion. Whole exome sequencing revealed mutations in MYB family genes and the ALK gene. Conclusion: This study highlights the pathological and molecular characteristics of PPACC, including a cribriform pattern and specific genetic mutations. These findings underscore the necessity of enhancing clinical vigilance to avoid misdiagnosis and missed diagnosis of this disease. |
| format | Article |
| id | doaj-art-5ba720bb661b47db872ad9d787e2069a |
| institution | OA Journals |
| issn | 2213-0071 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Respiratory Medicine Case Reports |
| spelling | doaj-art-5ba720bb661b47db872ad9d787e2069a2025-08-20T02:28:19ZengElsevierRespiratory Medicine Case Reports2213-00712025-01-015510219810.1016/j.rmcr.2025.102198Molecular genetic profiling of a rare case of primary pulmonary adenoid cystic carcinoma: Insights from whole exome sequencing and literature reviewJianhao Xu0Fang Cao1Liqian Yao2Jingfeng Gu3Lanfen Pan4Jiarui Min5Zijie Xu6Jihao Su7Zhiyong Deng8Song Xu9Department of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, China; Immunopathology Innovation Team, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, ChinaEmergency Surgery, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, ChinaDepartment of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, ChinaDepartment of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, ChinaDepartment of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, China; Immunopathology Innovation Team, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, ChinaDepartment of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, ChinaDepartment of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, ChinaDepartment of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, ChinaDepartment of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, China; Immunopathology Innovation Team, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, China; Corresponding author. Department of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, China.Department of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, China; Immunopathology Innovation Team, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, China; Corresponding author. Department of Pathology, Kunshan First People's Hospital Affiliated to Jiangsu University, Kunshan, Jiangsu, China.Background: Primary pulmonary adenoid cystic carcinoma (PPACC) is a rare neoplasm characterized by slow growth and low malignancy. Aim: The study seeks to enhance understanding of PPACC through comprehensive analysis of a reported case, incorporating pathological diagnosis, immunohistochemistry, special staining, and molecular alterations identified via whole exome sequencing. Methods: A retrospective analysis was conducted on a PPACC case treated at the institution, encompassing pathological examination, immunohistochemical profiling, special staining techniques, and molecular alterations revealed by whole exome sequencing. Results: A 56-year-old male presented with a left lower lobe mass identified on chest CT during a routine health check. Clinical evaluation revealed dyspnea, and imaging showed a 25 × 18 mm nodule in the left lower lobe. Video-assisted thoracoscopic surgery was performed for left lower lobectomy, with intraoperative frozen pathology indicating a salivary gland-type tumor (2.5 × 2 × 1.7 cm). ENT examination and cervical MRI ruled out a primary salivary gland tumor. Routine paraffin-embedded pathology confirmed pulmonary adenoid cystic carcinoma without pleural invasion. Whole exome sequencing revealed mutations in MYB family genes and the ALK gene. Conclusion: This study highlights the pathological and molecular characteristics of PPACC, including a cribriform pattern and specific genetic mutations. These findings underscore the necessity of enhancing clinical vigilance to avoid misdiagnosis and missed diagnosis of this disease.http://www.sciencedirect.com/science/article/pii/S2213007125000346Pulmonary adenoid cystic carcinomaLung tumorDiagnosisTreatment |
| spellingShingle | Jianhao Xu Fang Cao Liqian Yao Jingfeng Gu Lanfen Pan Jiarui Min Zijie Xu Jihao Su Zhiyong Deng Song Xu Molecular genetic profiling of a rare case of primary pulmonary adenoid cystic carcinoma: Insights from whole exome sequencing and literature review Respiratory Medicine Case Reports Pulmonary adenoid cystic carcinoma Lung tumor Diagnosis Treatment |
| title | Molecular genetic profiling of a rare case of primary pulmonary adenoid cystic carcinoma: Insights from whole exome sequencing and literature review |
| title_full | Molecular genetic profiling of a rare case of primary pulmonary adenoid cystic carcinoma: Insights from whole exome sequencing and literature review |
| title_fullStr | Molecular genetic profiling of a rare case of primary pulmonary adenoid cystic carcinoma: Insights from whole exome sequencing and literature review |
| title_full_unstemmed | Molecular genetic profiling of a rare case of primary pulmonary adenoid cystic carcinoma: Insights from whole exome sequencing and literature review |
| title_short | Molecular genetic profiling of a rare case of primary pulmonary adenoid cystic carcinoma: Insights from whole exome sequencing and literature review |
| title_sort | molecular genetic profiling of a rare case of primary pulmonary adenoid cystic carcinoma insights from whole exome sequencing and literature review |
| topic | Pulmonary adenoid cystic carcinoma Lung tumor Diagnosis Treatment |
| url | http://www.sciencedirect.com/science/article/pii/S2213007125000346 |
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