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Titolo:
Cowden disease and Lhermitte-Duclos disease: Characterization of a new phakomatosis
Autore:
Robinson, S; Cohen, AR;
Indirizzi:
Case Western Reserve Univ, Rainbow Babies & Childrens Hosp, Sch Med, Div Pediat Neurol Surg, Cleveland, OH 44106 USA Case Western Reserve Univ Cleveland OH USA 44106 Cleveland, OH 44106 USA Case Western Reserve Univ, Sch Med, Dept Neurol Surg, Cleveland, OH 44106 USA Case Western Reserve Univ Cleveland OH USA 44106 Cleveland, OH 44106 USA
Titolo Testata:
NEUROSURGERY
fascicolo: 2, volume: 46, anno: 2000,
pagine: 371 - 383
SICI:
0148-396X(200002)46:2<371:CDALDC>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
MULTIPLE HAMARTOMA SYNDROME; TUMOR-SUPPRESSOR GENE; TRANSFORMING-GROWTH-FACTOR; BANNAYAN-ZONANA-SYNDROME; GERMLINE PTEN MUTATION; DYSPLASTIC GANGLIOCYTOMA; BREAST-CANCER; TUBEROUS SCLEROSIS; PROSTATE-CANCER; PTEN/MMAC1 GENE;
Keywords:
brain tumor; cerebellum; Cowden disease; dysplastic cerebellar gangliocytoma; hamartoma; Lhermitte-Duclos disease; phakomatosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
86
Recensione:
Indirizzi per estratti:
Indirizzo: Robinson, S Case Western Reserve Univ, Rainbow Babies & Childrens Hosp, Sch Med, Div Pediat Neurol Surg, 11100 Euclid Ave, Cleveland, OH 44106 USA Case Western Reserve Univ 11100 Euclid Ave Cleveland OH USA 44106
Citazione:
S. Robinson e A.R. Cohen, "Cowden disease and Lhermitte-Duclos disease: Characterization of a new phakomatosis", NEUROSURGER, 46(2), 2000, pp. 371-383

Abstract

OBJECTIVE: Lhermitte-Duclos disease, or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous lesion that can cause progressive mass effects in the posterior fossa. Cowden disease, or multiple hamartoma-neoplasia syndrome, is a rare autosomal dominant disorder characterized by mucocutaneous hamartomas and high incidences of systemic malignancies. We recently treated a patient with manifestations of both Lhermitte-Duclos diseaseand Cowden disease, and we were intrigued by the occurrence of these two rare disorders in the same patient. The purpose of the present study was to examine the nature of the association between Lhermitte-Duclos disease and Cowden disease,METHODS: The records for all patients who had been diagnosed at our institution as having Lhermitte-Duclos disease were reviewed, to determine whether these patients also exhibited manifestations of Cowden disease, Data wereobtained from multiple sources, including patient interviews, correspondence with treating physicians, and chart reviews. RESULTS: During the past 40 years, five patients were diagnosed at Case Western Reserve University as having Lhermitte-Duclos disease. All five patients exhibited manifestations of Cowden disease. Before this review, Cowden disease had not been diagnosed for three of the patients. In our most recent case, the diagnoses of both disorders were established preoperatively. That patient was observed to have a deletion in the critical portion of Exon 5 of the PTEN gene, the gene associated with Cowden disease. CONCLUSION: Inclusion of Lhermitte-Duclos disease in the Cowden disease spectrum suggests that Cowden disease is a true phakomatosis, with hamartomasarising from cutaneous and neural ectoderm. Recent advances in molecular genetics may help to refine the current descriptive classification of the phakomatoses. The association between Lhermitte-Duclos disease and Cowden disease has been under-recognized and under-reported. Recognition of this association has direct clinical relevance, because diligent long-term follow-upmonitoring of individuals with Lhermitte-Duclos disease and Cowden diseasemay lead to the early detection of malignancy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 21:55:38