Internal medicine
-
Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are highly effective against EGFR-mutant non-small-cell lung carcinoma but can cause serious adverse events, such as interstitial lung disease (ILD). Treatment strategies for osimertinib-induced ILD are not well established. ⋯ We herein report a 67-year-old woman with symptomatic osimertinib-induced ILD who was switched to afatinib and later rechallenged with osimertinib and corticosteroids. Neither treatment resulted in ILD relapse, suggesting that these may be viable treatment options when alternative treatments are limited.
-
Objective Spastic paraplegia 7 (SPG7) is an autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in SPG7. It is predominantly characterized by adult-onset slowly progressive spastic paraparesis. While SPG7 presenting with ataxia with or without spasticity is relatively common in Europe and North America, it is considered rare in Japan. ⋯ In addition, Patient 1 exhibited partial ophthalmoplegia and spastic paraparesis, whereas Patient 2 demonstrated cerebellar ataxia without spasticity. Conclusion The rarity of SPG7 in Japan may be attributed to variation in the minor allele frequency of the c.1529C>T, p. Ala510Val variant, which is more prevalent in Europe and North America than in other areas.
-
A 67-year-old woman underwent a screening colonoscopy, which revealed a 7-mm rectal subepithelial lesion. Endoscopic submucosal dissection (ESD) confirmed a grade 1 rectal neuroendocrine neoplasm (NEN), and no further treatment was administered. ⋯ The patient died 13 years after ESD due to the progression of lung cancer. This case highlights the need for long-term follow-up in patients with small rectal NENs treated with endoscopic resection.
-
Review Case Reports
Metastatic Pleomorphic Carcinoma of the Lung with Extensive Chromosomal Rearrangements: An Autopsy Case with a Literature Review.
We herein report a 47-year-old man who presented with progressive paraparesis. Imaging revealed a right upper pulmonary nodule, massive bilateral adrenal metastases, thoracolumbar vertebral osteolysis, and subcutaneous nodules. ⋯ Autopsy findings confirmed pulmonary pleomorphic carcinoma with extensive metastases. Quantification of chromosomal rearrangements revealed a jump-up mutation from the normal karyotype, followed by a further incremental increase in the degree of deviation.