Hereditary transthyretin amyloidosis incidentally diagnosed by video-associated lung surgery for lung cancer: A case report
Pulmonary involvement associated with transthyretin amyloidosis is a relatively uncommon presentation among many systemic symptoms. However, in recent times, several definitive treatments have been newly approved, thus the importance of diagnosing previously overlooked cases has been increasing. Thi...
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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/S2213007125000061 |
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| author | Katsuhiro Itogawa Shintaro Sato Hideaki Yamakawa Keiichi Akasaka Masako Amano Akiko Adachi Hidekazu Matsushima |
| author_facet | Katsuhiro Itogawa Shintaro Sato Hideaki Yamakawa Keiichi Akasaka Masako Amano Akiko Adachi Hidekazu Matsushima |
| author_sort | Katsuhiro Itogawa |
| collection | DOAJ |
| description | Pulmonary involvement associated with transthyretin amyloidosis is a relatively uncommon presentation among many systemic symptoms. However, in recent times, several definitive treatments have been newly approved, thus the importance of diagnosing previously overlooked cases has been increasing. This report describes an incidentally diagnosed case with a pulmonary lesion. A 76-year-old male with a history of obstructive sleep apnea syndrome, bilateral carpal tunnel syndrome, and lumbar canal stenosis was presented with a 25mm right lower lobe nodule identified through a computed tomography conducted at an outpatient clinic. Lung cancer was suspected and the following thoracoscopic segmentectomy revealed a diagnosis of adenocarcinoma in situ. In addition, further pathological investigation of the background lung tissue revealed deposition of amyloid transthyretin (TTR), although no radiological findings suggestive of pulmonary amyloidosis were present. A genetic mutation screening test revealed pathological TTR gene mutation of heterozygous Tyr114His (p.Tyr134His). Thus, the diagnosis of hereditary transthyretin amyloidosis was made, and the subsequent investigation identified familial amyloid polyneuropathy. Finally, treatment with vutrisiran, a small interfering RNA (siRNA) targeting the TTR gene, was successfully initiated. Physicians need to be aware that unidentified amyloidosis may be diagnosed incidentally from a biopsied or resected specimen for another purpose. Diagnosing systemic amyloidosis that may otherwise be overlooked would enable patients to receive benefits from the definitive therapy. |
| format | Article |
| id | doaj-art-08d104c934d14b8aa2ab45d6bb9dc254 |
| institution | Kabale University |
| issn | 2213-0071 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
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| series | Respiratory Medicine Case Reports |
| spelling | doaj-art-08d104c934d14b8aa2ab45d6bb9dc2542025-02-09T05:00:23ZengElsevierRespiratory Medicine Case Reports2213-00712025-01-0153102170Hereditary transthyretin amyloidosis incidentally diagnosed by video-associated lung surgery for lung cancer: A case reportKatsuhiro Itogawa0Shintaro Sato1Hideaki Yamakawa2Keiichi Akasaka3Masako Amano4Akiko Adachi5Hidekazu Matsushima6Department of Respiratory Medicine, Saitama Red Cross Hospital, Saitama, Japan; Corresponding author. Department of Respiratory Medicine, Saitama Red Cross Hospital, 1-5, Shintoshin, Chuo-ku, Saitama, 330-8553, Japan.Department of Respiratory Medicine, Saitama Red Cross Hospital, Saitama, JapanDepartment of Respiratory Medicine, Saitama Red Cross Hospital, Saitama, JapanDepartment of Respiratory Medicine, Saitama Red Cross Hospital, Saitama, JapanDepartment of Respiratory Medicine, Saitama Red Cross Hospital, Saitama, JapanDepartment of Diagnostic Pathology, Saitama Red Cross Hospital, Saitama, JapanDepartment of Respiratory Medicine, Saitama Red Cross Hospital, Saitama, JapanPulmonary involvement associated with transthyretin amyloidosis is a relatively uncommon presentation among many systemic symptoms. However, in recent times, several definitive treatments have been newly approved, thus the importance of diagnosing previously overlooked cases has been increasing. This report describes an incidentally diagnosed case with a pulmonary lesion. A 76-year-old male with a history of obstructive sleep apnea syndrome, bilateral carpal tunnel syndrome, and lumbar canal stenosis was presented with a 25mm right lower lobe nodule identified through a computed tomography conducted at an outpatient clinic. Lung cancer was suspected and the following thoracoscopic segmentectomy revealed a diagnosis of adenocarcinoma in situ. In addition, further pathological investigation of the background lung tissue revealed deposition of amyloid transthyretin (TTR), although no radiological findings suggestive of pulmonary amyloidosis were present. A genetic mutation screening test revealed pathological TTR gene mutation of heterozygous Tyr114His (p.Tyr134His). Thus, the diagnosis of hereditary transthyretin amyloidosis was made, and the subsequent investigation identified familial amyloid polyneuropathy. Finally, treatment with vutrisiran, a small interfering RNA (siRNA) targeting the TTR gene, was successfully initiated. Physicians need to be aware that unidentified amyloidosis may be diagnosed incidentally from a biopsied or resected specimen for another purpose. Diagnosing systemic amyloidosis that may otherwise be overlooked would enable patients to receive benefits from the definitive therapy.http://www.sciencedirect.com/science/article/pii/S2213007125000061AmyloidosisPulmonary amyloidosisTransthyretinLung cancerAdenocarcinoma |
| spellingShingle | Katsuhiro Itogawa Shintaro Sato Hideaki Yamakawa Keiichi Akasaka Masako Amano Akiko Adachi Hidekazu Matsushima Hereditary transthyretin amyloidosis incidentally diagnosed by video-associated lung surgery for lung cancer: A case report Respiratory Medicine Case Reports Amyloidosis Pulmonary amyloidosis Transthyretin Lung cancer Adenocarcinoma |
| title | Hereditary transthyretin amyloidosis incidentally diagnosed by video-associated lung surgery for lung cancer: A case report |
| title_full | Hereditary transthyretin amyloidosis incidentally diagnosed by video-associated lung surgery for lung cancer: A case report |
| title_fullStr | Hereditary transthyretin amyloidosis incidentally diagnosed by video-associated lung surgery for lung cancer: A case report |
| title_full_unstemmed | Hereditary transthyretin amyloidosis incidentally diagnosed by video-associated lung surgery for lung cancer: A case report |
| title_short | Hereditary transthyretin amyloidosis incidentally diagnosed by video-associated lung surgery for lung cancer: A case report |
| title_sort | hereditary transthyretin amyloidosis incidentally diagnosed by video associated lung surgery for lung cancer a case report |
| topic | Amyloidosis Pulmonary amyloidosis Transthyretin Lung cancer Adenocarcinoma |
| url | http://www.sciencedirect.com/science/article/pii/S2213007125000061 |
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