Neoplastic lesions in CADASIL syndrome: report of an autopsied Japanese case.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common heritable causes of stroke and dementia in adults. The gene involved in the pathogenesis of CADASIL is Notch3; in which mutations affect the number of cysteine residues in its extracellular domain, causing its accumulation in small arteries and arterioles of the affected individuals. Besides the usual neurological and vascular findings that have been well-documented in CADASIL patients, this paper additionally reports multiple neoplastic lesions that were observed in an autopsy case of CADASIL patient; that could be related to Notch3 mutation. The patient was a 62 years old male, presented with a past history of neurological manifestations, including gait disturbance and frequent convulsive attacks. He was diagnosed as CADASIL syndrome with Notch3 Arg133Cys mutation. He eventually developed hemiplegia and died of systemic convulsions. Autopsy examination revealed-besides the vascular and neurological lesions characteristic of CADASIL- multiple neoplastic lesions in the body; carcinoid tumorlet and diffuse idiopathic pulmonary neuro-endocrine cell hyperplasia (DIPNECH) in the lungs, renal cell carcinoma (RCC), prostatic adenocarcinoma (ADC) and adenomatoid tumor of the epididymis. This report describes a spectrum of neoplastic lesions that were found in a case of CADASIL patient that could be related to Notch3 gene mutations.
Department of Pathology and Experimental Medicine, Kumamoto University, Graduate School of Medical Sciences Kumamoto, Japan ; Department of Pathology, Faculty of Medicine, Suez Canal University Ismailia, Egypt.
Wael Abdo
WA
Hassan
Department of Diagnostic Pathology, Yokohama City University Yokohama, Japan.
Naoka
N
Udaka
Department of Neurology, Kumamoto University, Graduate School of Medical Sciences Kumamoto, Japan.
Akihiko
A
Ueda
Department of Neurology, Kumamoto University, Graduate School of Medical Sciences Kumamoto, Japan.
Yukio
Y
Ando
Department of Pathology and Experimental Medicine, Kumamoto University, Graduate School of Medical Sciences Kumamoto, Japan.
Takaaki
T
Ito
D001344:Autopsy; D001706:Biopsy; D046589:CADASIL / Q000235:genetics / Q000473:pathology*; D002423:Cause of Death; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009369:Neoplasms / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000032:analysis / Q000235:genetics
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; autopsy case; neoplastic lesions