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Ectopic right parietal pleural thymic carcinoma: a rare case and review of the literature.

ABSTRACT: Ectopic thymic carcinoma is extremely rare. We present a case of a 73-year-old male patient with ectopic right parietal pleural thymic carcinoma and performed a literature review. Computed tomography (CT) of the chest demonstrated a sharp-edged soft tissue mass with intense enhancement measuring 47 mm × 29 mm with a broader base adjacent to the right axillary chest wall at the level of the 5th rib. There was no hilar or mediastinal lymphadenopathy or evidence of a mediastinal tumor or pleural nodules. A totally extra-pleural tumor resection and partial right lung resection was performed. Histological examination demonstrated infiltrative growth typical of carcinoma cells with a nest-like distribution locally invading the surface of the lung tissue. Immunohistochemical examination confirmed the diagnosis of thymic squamous carcinoma positive for CD5. Mediastinal radical radiotherapy (60 Gy) was performed postoperatively. The patient was followed for 17 months without any evidence of recurrence or metastasis.

SUBMITTER: Zhu H

PROVIDER: S-EPMC5542958 | biostudies-other | 2017 Jul

REPOSITORIES: biostudies-other

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Project description:BackgroundArrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable heart muscle disorder that predominantly affects the right ventricle. Mutations in genes that encode components of desmosomes, the adhesive junctions that connect cardiomyocytes, are the predominant cause of ARVC. A case with novel heterozygous mutation in the LAMA2 gene is reported here. The protein encoded by LAMA2 gene is the α2 chain of laminin-211 protein, which establishes a stable relationship between the muscle fiber membrane and the extracellular matrix. We explored the potential mechanism and the relationship between the mutation and ARVC.Case presentationAt the age of 8, the patient developed syncope and palpitation after exercise. Dynamic electrocardiogram recorded continuous premature ventricular beats, and MRI showed the right ventricle was significantly enlarged and there were many localized distensions at the edge of the right ventricular wall. The patient was diagnosed with ARVC and received heart transplantation at the age of 14 due to severe heart dysfunction. The myocardial histological pathological staining revealed a large amount of fibrosis and adipose migration. Whole exome sequencing (WES) identified the heterozygous mutation in the LAMA2 gene [NM_000426.3: c.8842G > A (p.G2948S)]. This is the first report of these variants. Analysis was performed on genetic disorders to reveal splice site changes and damage to protein structure. LAMA2 p.G2948S predicted unstable protein structure and impaired function. Induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) were established. RNA-seq and the western blot were performed on IPSC-CMs to explore the ARVC-related signaling pathway.ConclusionThis is the first case report to describe an ARVC phenotype in patients possessing a novel LAMA2 c.8842G > A (p.G2948S) mutation. Our results aid in understanding of the pathogenesis of ARVC. The molecular mechanism of LAMA2 leading to ARVC disease still needs further study.

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Ectopic right parietal pleural thymic carcinoma: a rare case and review of the literature.

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