Medullary thyroid cancer and the impact of genetic testing.

Medullary thyroid cancer (MTC) consists of a rare, undifferentiated tumor and often is described as having a chronic and indolent disease process. Approximately 5%-10% of all thyroid malignancies are MTC, and about 25% of patients diagnosed with the disease have a genetic form that was inherited through a mutation of the RET proto-oncogene. The mutation is expressed by an autosomal dominant allele and, if inherited, has almost a 100% chance of developing into a malignancy. Detection of the germline mutation identifies individuals at risk and enables prophylactic treatment for the prevention of MTC. As a result, patients and family members commonly undergo genetic testing during the diagnostic phase and experience certain psychosocial stressors. The purpose of this article is to provide an overview of MTC and its symptoms, treatment, prognosis, and genetics. The psychosocial effects of genetic testing on the quality of life of patients with MTC also will be described. By learning more about the pathophysiology and psychosocial stressors, nurses can facilitate proper counseling and increase the likelihood of positive outcomes for their patients.

Anti-Ma2 antibody related paraneoplastic limbic/brain stem encephalitis associated with breast cancer expressing Ma1, Ma2, and Ma3 mRNAs.

A 69 year old woman presented with cognitive impairment and supranuclear gaze palsy caused by paraneoplastic limbic/brain stem encephalitis associated with atypical medullary breast carcinoma. The cerebrospinal fluid from the patient harboured an anti-neuronal cell antibody against Ma2 antigen, but not against Ma1 or Ma3 antigen. Despite the antibody being restricted to the Ma2 antigen, the patient's cancer tissue expressed Ma1, Ma2, and Ma3 mRNAs. These results, and the expression of Ma2 mRNA in an atypical medullar breast carcinoma in another patient without paraneoplastic encephalitis, indicate that the induction of anti-Ma2 antibody depends on host immunoreponsiveness and not on the presence of the antigen itself in the cancer.

Providing information to patients with a rare cancer: using Internet discussion forums to address the needs of patients with medullary thyroid carcinoma.

Medullary thyroid carcinoma (MTC) is a rare disease, and specific experience with the condition is not commonly found outside of major cancer centers. Because of the rarity and slow-growing natural history of the disease, patients with MTC frequently have many questions concerning prognosis, treatment, and follow-up care. Many of these patients have joined an e-mail group on the Internet through which they share information and concerns. The author has joined this group and shares her expert clinical knowledge about the disease. When individuals are armed with accurate and expert information, they can make informed decisions. The source of this information can be diverse. Nurses with expert knowledge can use opportunities such as e-mail groups to answer questions and respond openly about subjects about which they have unique perspectives.

Quality of life in patients at risk of medullary thyroid carcinoma and followed by a comprehensive medical network: trends for future evaluations.

BACKGROUND: As shown in a previous study, the knowledge of the genetic risk in individuals belonging to families at risk of medullary-thyroid carcinoma (MTC) could be associated with impaired quality of life (QoL). PATIENTS AND METHODS: In the present study, we compared the QoL scores obtained in the same period with the subjective quality of life profile (SQLP): in 82 individuals at risk of MTC who had been tested for Ret-mutations; in 200 women at risk of familial breast/ovarian cancer syndrome (BOC); and in a control population of 3,501 healthy volunteers. RESULTS: Significant differences were observed in favour of healthy volunteers as well as individuals at risk of MTC, over women at risk of BOC (mean scores: 0.89, 0.85, and 0.64, respectively, P < or = 0.001), but QoL scores were not statistically different between individuals at risk of MTC and the control population (P = 0.2). However, they were significantly inferior in the subgroup of germline Ret-mutation carriers, as compared to the control population (mean scores: 0.73 and 0.89, P = 0.04). In the latter, the relationships with the children and the family were the most important facets of their QoL. CONCLUSION: Our results confirm the potentially negative impact of the knowledge of the genetic risk of cancer and its consequences in terms of morbidity and follow-up, on the QoL in people followed at oncogenetic visits.

Parents' responses to disclosure of genetic test results of their children.

The psychological reactions of 22 parental couples and 3 single parents were investigated after disclosure of genetic test results of their children. The children were tested for the early-onset, monogenetic cancer disorder multiple endocrine neoplasia type 2. Participants came from 13 different families and were aged between 28 and 47 years. Parents who were informed that their child was a gene carrier reacted with resignation, showed moderate to high levels of test-related and general anxiety, but few psychological complaints. Daily activities were disturbed in 43% of the parents with carrier-children. There was little disruption of the parents' future perspective, apart from some socioeconomic disadvantages and increased parental concern for the carrier-children. Most parents with carrier-children showed restraint with respect to short-term prophylactic treatment. Parents with favorable test results showed significantly less anxiety and no disturbance in their daily activities. They did not, however, seem to be reassured by the DNA test result. These parents questioned the reliability of the DNA test, wanted confirmation of the test results, and were eager to continue screening of their noncarrier children. Parents, especially those with a lower level of education and/or a pessimistic view of the future, were distressed by unfavorable test results. Additional counseling is advised to prevent parents of carrier-children worrying unnecessarily, or parents with children in whom the disease gene was not found being not reassured. Am. J. Med. Genet. 94:316-323, 2000.