ABSTRACT
Li-Fraumeni syndrome is a rare cancer predisposition syndrome classically associated with remarkably early onset of cancer in families with a typical spectrum of malignancies, including sarcoma, breast cancer, brain tumors, and adrenocortical carcinoma. Because the risks of cancer development are strikingly high for Li-Fraumeni syndrome, aggressive cancer surveillance is often pursued in these individuals. However, optimal screening methods and intervals for Li-Fraumeni syndrome have yet to be determined. In addition, there may be a significant psychosocial burden to intensive cancer surveillance and some prevention modalities. Here, we describe a case of a young woman with a de novo mutation in TP53 and multiple malignancies, with her most recent cancers found at early, curable stages due to aggressive cancer screening. The potential benefits and risks of intensive cancer surveillance in hereditary cancer syndromes is discussed.
Subject(s)
Early Detection of Cancer/methods , Li-Fraumeni Syndrome/diagnosis , Li-Fraumeni Syndrome/genetics , Neoplasms, Multiple Primary/diagnosis , Neoplasms, Multiple Primary/genetics , Child , Female , Genetic Predisposition to Disease/genetics , Humans , Li-Fraumeni Syndrome/therapy , Neoplasms, Multiple Primary/therapy , Treatment OutcomeABSTRACT
The authors present a case of breast cancer with a skip lesion of DIN 1 (ductal carcinoma in situ [DCIS] grade 1) in the nipple, leaving the base of the nipple free of disease. During the surgical procedure of nipple-sparing mastectomy (NSM) a frozen section evaluation of the base of the nipple and areola complex is often carried out to ascertain absence of any intraepithelial (in situ) or invasive neoplasms that could lead to nipple recurrences if left behind. This case illustrates a situation where a frozen section would have given a false-negative prediction of nipple involvement if the patient had been selected for NSM. This case illustrates the need to adhere to strict criteria for selecting patients eligible for NSM and to consider the use of additional preoperative and intraoperative measurements and methods to refine the selection of candidates for NSM and enhance the oncological safety of the procedure.
Subject(s)
Breast Neoplasms/diagnosis , Carcinoma, Intraductal, Noninfiltrating/diagnosis , Nipples/pathology , Axilla , Breast Neoplasms/surgery , Carcinoma, Intraductal, Noninfiltrating/surgery , Female , Humans , Lymph Node Excision , Mastectomy , Middle Aged , Patient SelectionABSTRACT
BACKGROUND: Intussusception of the appendix is a rare disease that constitutes a diagnostic challenge to the surgeon. The literature on this condition is limited to case reports. The demographics, presentation, and treatment remain debatable in the absence of a comprehensive review of the literature. DATA SOURCES: This article reports a case of a 40-year-old woman who presented with intussusception of the appendix caused by endometriosis. A comprehensive review of the English literature in PubMed was performed. The trends in incidence, sex predilection, presentation, and treatment of appendiceal intussusception were derived based on the reports of 191 patients. COMMENTS: The incidence was more common in adults (76%) than in children (24%). Female patients (72%) were 2 times more affected in adults than in children, whereas male patients (58%) seem to be more affected in the pediatric population. Intussusception of the appendix has most commonly a chronic presentation (63%). Endometriosis (33%) and inflammation (76%) were the most common pathologic findings in adults and children, respectively. Only 49% of patients were treated by simple appendectomy; 49% patients underwent partial colectomy; and 2% of patients had their appendixes endoscopically removed.
