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E Schönle

Publications and source records attributed to E Schönle.

6 recordsLinked to original sources
PubMed1997

A childhood fibrolamellar hepatocellular carcinoma with increased aromatase activity and a near triploid karyotype.

We report a 15-year-old boy with hepatocellular carcinoma (HCC) of the fibrolamellar type. He presented with advanced disease and a non-resectable tumor. Clinical features included marked gynecomastia which had been present for 3 years, failure to enter puberty, and failure to thrive. These features might have been due to a high aromatase activity of the tumor. The course of the illness suggested that the tumor had been present for at least 3 years prior to diagnosis. At diagnosis the patient had multiple metastases which included infiltrated ascites. Cytogenetic analysis of the ascites revealed a near triploid karyotype with cell-to-cell variation and an abnormality of chromosome 1 q. This to our knowledge is the first karyotype report of fibrolamellar HCC in a child.

Adolescent↗
PubMed1996

[Detection of RET-proto-oncogene mutations in the diagnosis of Type 2 endocrine neoplasia (MEN 2)].

We have analyzed 95 blood- and 25 paraffin-derived DNA samples of 120 individuals from Switzerland (MEN 2 family members and patients with medullary thyroid carcinoma or pheochromocytoma) for the presence of RET protooncogene mutations in exons 10, 11, 13, 14 and 16, where recently germline point mutations have been identified in more than 95% of patients with MEN 2A, familial medullary thyroid carcinoma (FMTC) and MEN 2B. Molecular DNA screening of samples was performed by non-radioactive single strand conformation polymorphism (SSCP) and heteroduplex gel electrophoresis method followed by mutation analysis of PCR products by direct cycle sequencing using an automated DNA sequencer. We identified 12 MEN 2A/FMSC and 6 MEN 2B families with 29 gene carriers. Ten different types of mutations were identified in the MEN 2A/FMTC families (620 Cys-->Arg, 618 Cys-->Ser, Gly, 611 Cys-->Tyr; 634 Cys-->Arg, Tyr, Trp, Phe, Ser, Gly) and all 6 MEN 2B families had a 918 Met-->Thr point mutation. Our results indicate that PCR-based DNA testing for RET point mutations is a rapid, accurate and reproducible method of identifying MEN 2 gene carriers using blood or tissue DNA. Early detection of gene carriers allows preventive thyroidectomy without neck dissection or parathyroid transplantation, and non-gene carriers can be released from biochemical testing. Furthermore, it is shown that the distribution and localization of RET mutations in MEN 2 families from Switzerland concur with combined results of larger series and that a "founder effect" of MEN 2 can be excluded for this country.

Adrenal Gland Neoplasms↗
PubMed1986

[Human insulin].

Explore the source record for details and available documents.

Animals↗
PubMed1983

[A patient with 46 XX/46 XY chimerism without hermaphroditism. The problem of prepuberal diagnosis of the Klinefelter's syndrome].

In a 12-year-old obese boy whose parents had asked for determination of sex chromatin the result was positive and Klinefelter's syndrome was diagnosed. Subsequently, the boy developed normally, went through puberty and presented with normal primary and secondary sex characteristics at the age of 22. The diagnosis was revised and on the basis of a karyotype the diagnosis of 46 XX/46 XY chimerism was made. In contrast to our patient, most dispermic chimeras are hermaphrodites. This case exemplifies the fact that Klinefelter's syndrome should not be diagnosed in prepubertal boys on the basis of positive sex chromatin.

Adult↗