Medical genetics 1962

McKusick, Victor A.; Abbey, Helen; Bartalos, M; Bowen, Peter; Boyer, Samuel H.; Cohen, Bernard; Danks, David M.; Duchastel, Yves; Emery, Alan E. H.; Epstein, Emil; Fainer, David C.; Finn, Ronald D.; Ginn, W.M.; Glynn, Michael; Goodman, Richard M.; Hawkins, Mary; Haws, D V; Kaufmann, Beatrice; Lee, C.S.N.; McKusick, A.B.; Murphy, Edmond A.; Punnett, Hope H.; Russell, Roger; Sayli, B.S.; Sherwin, Roger; Temtamy, Samia; Weber, Ralph; Wise, David A.; Woodrow, J. C.; Young, William J.

doi:10.1016/0021-9681(63)90148-6

Cited by 19 publications

(8 citation statements)

References 758 publications

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“…Gross and histopathologic changes at autopsy in our four patients closely resembled prior autopsy findings in WS191112131415161718192021 (Table 3), and together document multisystem disease affecting the skin, cardiovascular and respiratory system in all four patients. There was advanced atherosclerotic peripheral vascular disease together with evidence of recent or remote myocardial and cerebral infarction, and three instances of neoplasia: metastatic pancreatic adenocarcinoma with liver and lung metastases in Patients 3 and 4; multiple meningiomas in Patient 2; and a pulmonary carcinoid in Patient 4.…”

Section: Discussionsupporting

confidence: 81%

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Werner syndrome through the lens of tissue and tumour genomics

Tokita

Kennedy

Risques

et al. 2016

Sci Rep

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Werner syndrome (WS) is the canonical adult human progeroid (‘premature aging’) syndrome. Patients with this autosomal recessive Mendelian disorder display constitutional genomic instability and an elevated risk of important age-associated diseases including cancer. Remarkably few analyses of WS patient tissue and tumors have been performed to provide insight into WS disease pathogenesis or the high risk of neoplasia. We used autopsy tissue from four mutation-typed WS patients to characterize pathologic and genomic features of WS, and to determine genomic features of three neoplasms arising in two of these patients. The results of these analyses provide new information on WS pathology and genomics; provide a first genomic characterization of neoplasms arising in WS; and provide new histopathologic and genomic data to test several popular models of WS disease pathogenesis.

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Section: Discussionsupporting

confidence: 81%

“…We used previously published WS pathology reports191112131415161718192021 to develop a list of recurrent clinical and histopathologic findings in WS, then scored these findings in each of our patients (Tables 2 and 3, Supplementary Methods and Results). Scleroderma-like skin changes were present, though variable, in all four patients.…”

Section: Resultsmentioning

confidence: 99%

Werner syndrome through the lens of tissue and tumour genomics

Tokita

Kennedy

Risques

et al. 2016

Sci Rep

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“…This may have some implications for the pathogenesis of the tumor because it was previously demonstrated that "atypical" OS (arising in short and flat bones) shows subtypes other than the three major histologies more often than "typical" OS (arising in long bones). 16) Among Caucasians with WS, there have been only three case reports of skeletal OS in the literature, and two of three cases were of rare sites, small bones of the foot in one case 17) and the distal tibia/fibula in another. 18) These findings replicate those of the Japanese concerning the predisposition to OS of the ankle/foot in WS.…”

Section: Discussionmentioning

confidence: 99%

“…Germline mutations of WRN were examined using peripheral blood samples in five patients by methods pre-viously described. 15) Each mutation (designated mutations [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] was referred to as previously summarized. 6) The study regarding mutation analysis using patients' blood was approved by our institutional review board and informed consent was obtained by doctors in charge.…”

Section: Cases and Methodsmentioning

confidence: 99%

Atypical Osteosarcomas in Werner Syndrome (Adult Progeria)

Ishikawa

Miller

Machinami

et al. 2000

Japanese Journal of Cancer Research

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Werner syndrome (WS), adult progeria, is more common in Japan than elsewhere. It predisposes to osteosarcoma (OS) and five other rare tumors. To determine if and how OS is atypical in this genetic disorder, we studied the characteristics of ten Japanese cases with respect to clinical features, pathology, and radiographs, and compared them with a hospital series of 36 skeletal OS with the same atypical age-range, 35-57 years. The anatomic sites were also atypical: seven ankle/foot, two radius and one patella compared with only one at the ankle in the hospital series. The osteoblastic cell-type was about equally frequent in both series, but, among others than the three major subtypes, there was only one in WS as compared with 14 (39%) in the hospital series. The types of mutations were sought in five WS cases with OS. One showed no mutation at any of the ten known loci for Japanese, two were of type 4/4 and two of type 6/6. The mutations 4 and 6 have been found in 66% of alleles of WS cases in Japan. The increased frequency and unusual age and site distributions of OS in WS may be due to increased susceptibility, related to later-life leg ulcers, and weight-bearing on spindly ankles weakened by severe loss of lower limb subcutaneous tissue.

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“…Vacuolated lymphocytes were found on a peripheral blood film, raising a high suspicion of juvenile Batten disease [8,11]. The diagnosis was confirmed by molecular genetic analysis: Both children were homozygous for the commonly reported 1.02-kb deletion of the CLN3 gene (16p12) which is reported to account for up to 85 % of juvenile NCL chromosomes [9,13].…”

mentioning

confidence: 95%

Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease) CLN3 Mutation (Chrom 16p11.2) with Different Phenotypes in a Sibling Pair and Low Intensity in vivo Autofluorescence

2004

Klin Monatsbl Augenheilkd

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Medical genetics 1962

Cited by 19 publications

References 758 publications

Werner syndrome through the lens of tissue and tumour genomics

Werner syndrome through the lens of tissue and tumour genomics

Atypical Osteosarcomas in Werner Syndrome (Adult Progeria)

Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease) CLN3 Mutation (Chrom 16p11.2) with Different Phenotypes in a Sibling Pair and Low Intensity in vivo Autofluorescence

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