Multiple endocrine neoplasia 2: providing care for the family.

Multiple endocrine neoplasia 2 (MEN2) is a hereditary syndrome associated with medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. Unfortunately, a diagnosis of MEN2 often is delayed until after the patient has developed an advanced MEN2-related tumor. Nurses should be familiar with hallmark signs of this syndrome to facilitate an early diagnosis and appropriately refer families for genetic assessment and, ultimately, develop a long-term plan for early detection and intervention for all family members at risk for developing MEN2.

Bringing threat to the fore: participating in lifelong surveillance for genetic risk of cancer.

PURPOSE/OBJECTIVES: To explain how patients with multiple endocrine neoplasia type 2a (MEN2a) and family members conceptualize participation in lifelong surveillance in genetic cancer care. DESIGN: Qualitative naturalistic inquiry. SETTING: Northeastern United States. Data were collected during interviews in informants' homes. SAMPLE: 12 adult patients and 9 family members were recruited purposively through endocrinology clinics at two East Coast medical centers. METHODS: A grounded theory design was used. Subjects completed a demographic questionnaire and were interviewed on two occasions. In-depth interviews were audiotaped. The core concept and process variables emerged through three levels of narrative content analysis, theoretical sampling, and constant comparison. The generated theory was presented to the participants for validation. MAIN RESEARCH VARIABLES: The basic psychological issue associated with participation in lifelong surveillance and the psychosocial processes used by individuals to deal with the issues. FINDINGS: MEN2a patients and family members experience surveillance as a (Re)Minding of a threat to health. Once threat is brought to the fore, participants interpret the meaning and negotiate control of the impact of the diagnosis, related events, and consequences. Meaningful information from surveillance activities is incorporated into participants' self-image and daily lives through a process of (Re)Integration. The genetic nature of MEN2a did not emerge as a significant subcategory in relation to the core variable. CONCLUSIONS: Finding meaning in the outcomes of surveillance events is a psychosocial process that is central to participation in lifelong surveillance. Genetic predisposition to cancer was a peripheral concern to subjects as they dealt with surveillance issues. IMPLICATIONS FOR NURSING: This investigation provides a model for the development of a grounded theory for understanding how people with other genetic cancer syndromes participate in lifelong surveillance.

Hereditary cancers in children and ethical and psychosocial implications.

This article describes the application of genetic testing of children for hereditary cancers and the resultant ethical and psychosocial implications. Basic cancer genetics concepts are reviewed. Specific hereditary cancers that may affect children are described along with case examples and recommendations for nursing practice.

Medullary thyroid carcinoma: one component of the inherited disorder multiple endocrine neoplasia type 2A.

PURPOSE/OBJECTIVES: To describe and discuss the inherited syndrome multiple endocrine neoplasia (MEN) and one of its components medullary thyroid carcinoma. DATA SOURCES: Published books and articles; clinical experience. DATA SYNTHESIS: Three distinct types of MEN are known. Type 2a consists of medullary thyroid carcinoma, pheochromocytoma, and other conditions. The disorder is autosomal-dominant. Genetic counseling and screening and biochemical screening are possible. Early detection and treatment are key to successful control. CONCLUSIONS: Identification of kindreds affected by this inherited disorder can result in improved detection and early treatment. The merit and value of presumptive treatment remain unclear. IMPLICATIONS FOR NURSING PRACTISE: Nursing activities encompass prediagnosis through postoperative phases. Care involves all members of the family as well as psychological care.