A Multiple Primary Malignancy Patient With FANCA Gene Mutation: A Case Report and Literature Review

Understanding molecular mechanisms of response and resistance to anticancer therapies requires prospective patient follow-up and clinical and functional validation of both common and low-frequency mutations. We describe a whole-exome sequencing (WES) precision medicine trial focused on patients with advanced cancer. Show more

Purpose This review describes the prevalence of germline TP53 mutations, the risk of breast cancer and other cancers in mutation carriers and management implications for women with breast cancer and unaffected women. Methods Literature review of English language papers available through PubMed. Results Women who carry germline mutations in the TP53 gene have a very high risk of breast cancer of up to 85% by age 60 years. Most of these breast cancers are early onset with a median age at diagnosis of 34 years. Approximately 5–8% of women presenting with breast cancer under 30 years old have a germline TP53 gene mutation. Breast cancers in women with TP53 mutations are more likely to be hormone receptor positive and/or Her2 positive. Mastectomy is recommended over lumpectomy in TP53 mutation carriers who have breast cancer so that adjuvant breast radiotherapy can be avoided. Risk-reducing surgery should be considered due to the high contralateral breast cancer risk. Mutation carriers are at high risk of various childhood and adult-onset cancers with a very lifetime risk of malignancy, the commonest malignancies being breast cancer and soft tissue sarcoma. In unaffected female mutation carriers, MRI breast screening or risk-reducing surgery is recommended. The optimal surveillance for other cancers is currently unclear and should ideally be performed as part of a clinical trial. Conclusions Identifying a TP53 mutation in a gene panel test is a challenging result for the patient and clinician due to the high risk of second primaries and the lack of consensus about surveillance. Show more

Abstract The aim of this study was to determine the clinical features, treatment factors, and prognosis of patients with multiple primary malignant tumors (MPMTs). In total, 161 patients with MPMTs at our hospital (The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, Shaanxi, China) were analyzed in this study. We found that among 161 patients with MPMTs, 78 (48.4%) patients had synchronous tumors and 83 (51.6%) patients had metachronous tumors. Most clinical and pathological features were similar in both groups. Most patients with MPMTs were men and older patients (>50 years old), and adenocarcinoma was the most frequent pathology type. The most frequent location of all MPMTs was the digestive system. The leading tumor association was between digestive–digestive tumors, also. However, patients with synchronous tumors and MPMTs of the digestive system showed a shorter survival time. In the metachronous cancer group, the median interval time was 60 months, and a short interval time (≤60 months) was associated with a shorter survival time. In addition, survival time was increased in the younger age group (≤50 years old) and in patients who accepted surgery-based comprehensive therapy. However, only interval time (≤60 months) was an independent prognostic factor associated with survival for the metachronous cancer group. Therefore, careful surveillance and follow-up are especially important in these patients. Show more