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1.
BMJ Case Rep ; 17(1)2024 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-38238167

RESUMO

Pulmonary enteric adenocarcinoma (PEAC) is a rare, aggressive variant of lung adenocarcinoma with early metastatic potential. We present the case of a male smoker in his 50s who presented with right-sided numbness, pain and headache. Imaging revealed a destructive skull base mass invading the right sphenoid sinus. Histopathology was consistent with PEAC. The diagnosis was metastatic PEAC with a distant spread to the skull and represents the first case reported in the literature. We present an associated literature review of the clinical presentation, histological features and management of PEAC with skull metastasis. Metastasis should be considered when evaluating any persistent cranial lesion. Diagnosis requires thorough clinical, radiological and pathological assessment. Treatment involves surgical resection, chemoradiation and targeted therapy. Prognosis directly correlates with clinical stage at presentation. This case highlights the importance of careful evaluation of skull lesions, even in patients without known primary malignancy. Early diagnosis and multimodal therapy may improve outcomes.


Assuntos
Adenocarcinoma de Pulmão , Neoplasias Pulmonares , Humanos , Masculino , Adenocarcinoma de Pulmão/patologia , Pulmão/patologia , Neoplasias Pulmonares/patologia , Prognóstico , Base do Crânio/patologia
2.
Clin Neurol Neurosurg ; 233: 107939, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37573680

RESUMO

Triple A syndrome is a rare genetic condition that can manifest in alacrima, achalasia, adrenal insufficiency, and commonly neurological disorders. We report on a patient with Triple A syndrome who underwent extensive workup for hyperhidrosis, subsequently found to have a pituitary neuroendocrine tumour causing acromegaly. Histopathology revealed an unusual plurihormonal PitNET of dual cell lineage. Previous studies have described tissue-specific expression of the AAAS gene in the cerebellum, pituitary gland, adrenal gland among other structures. This may explain the rare, reported disease phenotypes associated with Triple A syndrome and suggest need for early brain imaging.

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