Biomedical subjects

Lindsay Middelton

Publications and source records attributed to Lindsay Middelton.

5 recordsLinked to original sources

PubMed2007

Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma development.

PURPOSE: Familial renal carcinoma is defined as families with 2 or more individuals with renal cell carcinoma without evidence of known hereditary renal carcinoma syndromes. To better characterize this familial cancer we reviewed renal carcinoma families evaluated at the National Cancer Institute between 1990 and 2004 to identify distinctive features of these families. We also determined the risk of renal carcinoma in first-degree relatives of affected family members. MATERIALS AND METHODS: We evaluated 141 at risk asymptomatic relatives of affected individuals from 50 families with 2 or more members with renal carcinoma. Histology slides of renal tumors from affected family members were reviewed. At risk members from renal carcinoma families were screened for occult renal neoplasms by renal ultrasound and computerized tomography. DNA from select families was tested for germline mutations of known renal carcinoma genes when clinically indicated and constitutional cytogenetic analysis was performed to search for germline chromosome alterations. RESULTS: Familial renal carcinoma families could be subdivided into subtypes based on tumor multiplicity and renal tumor histology. Of 141 at risk members of renal carcinoma families screened for occult renal tumors 2 were found to have occult renal tumors, which were identified as renal oncocytoma and a solid tumor that was not resected, respectively. No histologically confirmed occult renal carcinomas were detected in at risk family members. Several families previously classified as having familial renal carcinoma were found on further evaluation to have hereditary renal cancer syndromes. CONCLUSIONS: Familial renal carcinoma is a heterogeneous clinical and pathological entity. Familial renal carcinoma was subdivided into groups based on tumor multiplicity and tumor pathology. The empirical risk of histologically documented renal carcinoma in first-degree relatives who were members of familial renal carcinoma families was less than 1:141. One renal oncocytoma and 1 small solid renal tumor were detected.

Carcinoma, Renal Cell↗

PubMed2004

Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene.

PURPOSE: Hereditary papillary renal carcinoma (HPRC) is characterized by a predisposition to multiple, bilateral papillary type 1 renal tumors caused by inherited activating missense mutations in the tyrosine kinase domain of the MET proto-oncogene. In the current study we evaluated the clinical phenotype and germline MET mutation of 3 new HPRC families. We describe the early onset clinical features of HPRC. MATERIALS AND METHODS: We identified new HPRC families of Italian (family 177), Spanish (family 223) and Cuban (family 268) descent. We evaluated their clinical features, performed MET mutation analysis by denaturing high performance liquid chromatography and DNA sequencing, and estimated age dependent penetrance and survival using Kaplan-Meier analysis. We characterized renal tumors by histology and fluorescence in situ hybridization. RESULTS: Identical germline MET c.3522G --> A mutations (V1110I) were identified in families 177 and 268 but no evidence of a founder effect was found. Affected members of family 223 carried a germline c.3906G --> C.3522G --> A MET mutation (V1238I). Age dependent penetrance but not survival was significantly earlier for the c.3522G -->A mutation than for the c.3906G --> A mutation in these HPRC families. Trisomy of chromosome 7 and papillary renal carcinoma type 1 histology were detected in papillary renal tumors. CONCLUSIONS: HPRC can occur in an early onset form. The median age for renal tumor development in these 3 HPRC families was 46 to 63 years. HPRC associated papillary renal tumors may be aggressive and metastasize, leading to mortality. Median survival age was 60 to 70 years. Families with identical germline mutations in MET do not always share a common ancestor. HPRC is characterized by germline mutations in MET and papillary type 1 renal tumor histology.

Adenocarcinoma, Papillary↗

PubMed2003

Inherited urologic malignant disorders: nursing implications.

Cancer of the urologic system accounts for substantial morbidity and mortality in the United States each year. A subset of individuals with urologic malignancies has cancer due to alterations in a major predisposing gene. While several heritable renal cancer syndromes are well characterized, the hereditary nature and genetic basis of other urologic malignancies is not yet clarified. Nursing roles are increasingly affected by the rapid influx of genetic knowledge. Current advances in the genetic basis of genitourinary cancer and the implications of these advances for urologic nursing practice are addressed.

Female↗

PubMed2002

The role of the nurse in cancer genetics.

Knowledge gained from the Human Genome Project and related genetic research is already impacting clinical oncology nursing practice. Because cancer is now understood to be a genetic disease, changes in the traditional approaches to prevention, diagnosis, and therapeutic management of cancer are becoming increasingly genetically based. Therefore, to ensure competency in oncology nursing practice at all levels, nurses must incorporate an understanding of the underlying biology of carcinogenesis and the molecular rationale underlying strategies to prevent, diagnose, and treat cancer.

Adult↗

PubMedDate not supplied

Portfolio evaluation for professional competence: credentialing in genetics for nurses.

The use of professional portfolios, comprised of a wide variety of materials and evidence to profile the scope and depth of a clinician's practice competence, is gaining popularity. The usual methods of showing professional competence via paper and pencil/computerized testing, oral presentations, or performance observations provide a picture of competence at a given point in time based on didactic content recall. Portfolios present an opportunity for presentation of a larger number of competency evaluation points. Although examinations can be validated with psychometrics, providing accuracy and reliability of evaluation of portfolios is a more complicated matter. This article discusses the experiences of the Credentialing Committee of the International Society of Nurses in Genetics as they created and validated the evaluation of professional portfolios to provide a quality credential for nurses in genetics.

Clinical Competence↗