Cystic adenomatoid tumor of the uterus

We describe a case of cystic adenomatoid tumor of the uterus in a 38-year-old woman. The tumor was a subserosal cystic mass with a maximum diameter of 8 cm and located at the posterior wall of the right cornual region. Histologically, the tumor was composed of multiple cavities lined by flattened cells, lying among thin septa of connective tissue. The neoplasm showed small solid areas with a more typical histologic pattern of adenomatoid tumor. Immunohistochemical techniques showed the cells to be positive for keratins. They showed desmosomes, abundant intracytoplasmic filaments, and microvilli on ultrastructural study. The histologic, immunohistochemical, and ultrastructural characteristics of the present case closely resemble those of benign cystic mesothelioma and strongly support the mesothelial origin of the adenomatoid tumor of the uterus.     

Cystic fibrosis

Although mutation detection rates have not universally reached the 95% detection level recommended by the American Society of Human Genetics and are not likely to exceed 90% for many populations in the foreseeable future, CF carrier screening will probably be offered routinely in the near future. Although CF carrier information will be of benefit to some individuals and couples, the inability of conventional prenatal diagnosis to provide definitive diagnostic outcomes to some couples, specifically those couples in which only one partner has a detectable mutation, will make for considerable anguish and concern for some. Because genetic screening and counseling is meant to provide information and alleviate concerns and fears, the potential for CF screening to result in such a contradictory effect is of a continuing concern to those who provide obstetric and genetic services. In a National Institute of Health-sponsored workshop, Menutti and colleagues recommended that those populations to which carrier screening should be offered might include individuals and couples in high-risk groups (e.g., Ashkenazi Jews, central or northern Europeans, one partner with CF, and individuals with a family history of CF) who seek preconception counseling, infertility care, or prenatal care. The workshop participants concluded, however, that before screening can be offered systematically to these individuals or couples, practice guidelines, educational materials for providers and patients, informed-consent protocols, and laboratory standards for testing must be developed. Further advances in DNA and protein analytic capabilities, such as microchip analytic systems and protein truncation assays, may make CF screening and diagnosis more accurate and less likely to result in equivocal outcomes. In addition, it is hoped that continuing improvements in CF therapies will increase the life expectancy and improve the quality of life for individuals affected with CF. Expanding our current knowledge of genotype-phenotype correlations will not only allow us better to predict clinical outcomes but also may improve our treatments for individuals with CF because more targeted therapies may be developed for CF caused by specific mutations. Nonetheless, educational and counseling issues will, for the foreseeable future, remain of critical importance to ensure appropriate clinical care to low- and high-risk individuals.     

Endometriosis of the pancreas

Endometrial cyst of the pancreas was first described in 1984. The condition is extremely rare, and only a few case reports have been described. Herein we present a case report of a peripancreatic endometriosis cyst in a perimenopausal woman. Computed tomography, magnetic resonance imaging, and regression of the cyst during an observation period of a few months made the diagnosis most likely before laparoscopic surgery. Awareness of the condition, optimal preoperative imaging, and clinical features are discussed.     

MRI of Recurrent Cystic Mesothelioma: Differential Diagnosis of Cystic Pelvic Masses

A case of recurrent cystic pelvic mesothelioma in a woman who developed pelvic fullness, frequent urination, and pressure sensation in the lower abdomen with interesting magnetic resonance imaging findings is presented. The differential diagnosis of cystic pelvic masses is briefly discussed.     

Cystic dilation of the common bile duct

Nineteen male and female patients with cystic dilation of the common bile duct were treated by total removal of the choledochal cyst and reconstruction using a Roux-en-Y end to side hepaticojejunostomy. Follow-up study was 18 years for some patients. Our data suggest that this disease is highly correlated with an anomalous pancreaticobiliary junction and its sequelae, and that previous treatment by internal drainage is not uniformly successful. After radical surgical treatment and reconstruction, no deaths occurred in any of the patients. All early complications were treated with success by conservative means. With the use of the criteria of Alonso-Lej, there was a clinically significant shift in the status of the choledochal cyst from type 2 before operation to type 1 after operation. Our long term experience with this group of patients leads us to recommend total excision of the choledochal cyst and end to side hepaticojejunostomy for treating patients with cystic dilation of the common bile duct.     

Cystic fibrosis screening

The integration of universal cystic fibrosis screening in women's health has considerably altered the way we care for obstetric patients and likely will be the foundation for incorporating other genetic tests into routine women's health care. Prior to this change in the standard of care, screening for genetic disease was primarily limited to those individuals who had a personal or family history of the genetic condition or who belonged to a particular ethnic or racial group characterized by a high frequency of carrier and affected individuals. However, technological advances have resulted in facile and economic methodologies for detecting an increasing number of genetic mutations and in the realization that screening for common and uncommon disorders will likely be a not-too-distant-future part of routine health care. Programs that permit clinicians to properly implement genetic protocols and allow patients to make informed decisions about genetic screening and diagnostic tests are needed. The implementation of universal cystic fibrosis screening allows clinicians to recognize the benefits and pitfalls of genetic testing of the general population and encourages the development of programs that will effectively communicate genetic information to professionals and laity.     

Cystic hygroma in the fetus and newborn

Cystic hygromas are developmental abnormalities of the lymphoid system that occur at sites of lymphatic-venous connection, most commonly in the posterior neck. They are frequently associated with karyotypic abnormalities, various malformation syndromes, and several teratogenic agents. The disease course of an infant with cystic hygroma is unpredictable. When diagnosed prenatally, the overall prognosis is poor. Cystic hygroma diagnosed after birth is usually associated with a good prognosis. This article reviews the embryologic, genetic, and pathologic correlates of these lymphatic system abnormalities, as well as the clinical course and outcome of the fetus and newborn with a cystic hygroma. Management strategies are reviewed, including newer nonsurgical therapies for the neonate with a cystic hygroma.