Topography of FUS pathology distinguishes late-onset BIBD from aFTLD-U.

Multiple neurodegenerative diseases are characterized by the abnormal accumulation of FUS protein including various subtypes of frontotemporal lobar degeneration with FUS inclusions (FTLD-FUS). These subtypes include atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U), basophilic inclusion body disease (BIBD) and neuronal intermediate filament inclusion disease (NIFID). Despite considerable overlap, certain pathologic features including differences in inclusion morphology, the subcellular localization of inclusions, and the relative paucity of subcortical FUS pathology in aFTLD-U indicate that these three entities represent related but distinct diseases. In this study, we report the clinical and pathologic features of three cases of aFTLD-U and two cases of late-onset BIBD with an emphasis on the anatomic distribution of FUS inclusions.The aFTLD-U cases demonstrated FUS inclusions in cerebral cortex, subcortical grey matter and brainstem with a predilection for anterior forebrain and rostral brainstem. In contrast, the distribution of FUS pathology in late-onset BIBD cases demonstrated a predilection for pyramidal and extrapyramidal motor regions with relative sparing of cerebral cortex and limbic regions.The topography of FUS pathology in these cases demonstrate the diversity of sporadic FUS inclusion body diseases and raises the possibility that late-onset motor neuron disease with BIBD neuropathology may exhibit unique clinical and pathologic features

Metástase cutânea como primeira manifestação de adenocarcinoma pulmonar Cutaneous metastasis as the initial manifestation of lung adenocarcinoma

Relatamos o caso de um paciente do sexo masculino de 58 anos de idade, que foi encaminhado para a consulta de oncologia por apresentar uma massa epigástrica de crescimento rápido em três meses de evolução. A investigação diagnóstica revelou tratar-se de um adenocarcinoma pulmonar metastático estádio IV. Recebeu cinco ciclos de cisplatina e gemcitabina como tratamento de primeira linha, que foi interrompido devido a efeitos adversos. Houve estabilidade da doença pulmonar e progressão cutânea. Recebeu pemetrexed como tratamento de segunda linha e radioterapia externa concomitante, com boa tolerância e regressão completa da massa epigástrica. Entretanto, o paciente faleceu três meses após o tratamento. Destacamos aqui importância da multidisciplinaridade e do seu papel na individualização do tratamento.<br>We report the case of a 58-year-old male patient who was referred for oncology consultation due to an epigastric mass that had been growing rapidly for three months. Diagnostic investigation revealed that the mass was a metastasis of stage IV lung adenocarcinoma. The patient received five cycles of chemotherapy with cisplatin and gemcitabine as a first-line treatment, which was interrupted due to major adverse events. Although the pulmonary disease stabilized, the cutaneous disease progressed. The patient then received pemetrexed as a second-line chemotherapy, together with concurrent external radiotherapy, which was well tolerated. There was complete remission of the epigastric mass. However, the patient died three months after the treatment. Here, we emphasize the importance of a multidisciplinary approach and of its role in individualizing the treatment