Parental attitudes regarding the need for genetic services in a pediatric brain tumor survivorship program.

Pediatric brain tumor survivorship populations have not been typically offered genetic services as part of routine care. Genetic services can be defined as family history collection, genetic risk assessment for a patient and family members, and coordination of genetic testing. Prior research has focused on the integration of genetic services in the general pediatric oncology survivorship population and found a need for these services to be implemented. Gathering a family history and providing a genetic risk assessment have previously been determined to be an integral step in determining if an individual's cancer was due to a hereditary predisposition. The purpose of this study was to examine parental attitudes regarding the need for genetic services in their child's pediatric brain tumor survivorship clinic. Twelve semi-structured interviews were conducted with parents participating in the Brain STAR (Survivors Taking Action and Responsibility) program at Ann and Robert H. Lurie Children's Hospital of Chicago. A grounded theory approach was used to code and analyze the results thematically. Five key themes were identified: participants' perceived benefits and barriers regarding receiving genetic services, desirable time for implementation of these services, relevance of family history, and their thoughts regarding reproductive risk. These results provide insight for genetics professionals regarding the need for genetic services in this population, and how to best implement them.

Second primary rhabdomyosarcoma of the uterine cervix presenting with synchronous ovarian Sertoli-Leydig cell tumor: An illustrative case of DICER1 syndrome.

•Embryonal rhabdomyosarcoma of the uterine cervix and ovarian Sertoli-Leydig cell tumors are associated with DICER1 mutation•DICER1-associated tumors should prompt genetic counseling and testing•Somatic and germline genetic mutation profiles can be used to differentiate second primary from recurrent tumors.

Clinical Assessment and Diagnosis of Germline Predisposition to Hematopoietic Malignancies: The University of Chicago Experience.

With the increasing use of clinical genomics to guide cancer treatment and management, there is a rise in the identification of germline cancer predisposition syndromes and a critical need for patients with germline findings to be referred for surveillance and care. The University of Chicago Hematopoietic Malignancies Cancer Risk Team has established a unique approach to patient care for individuals with hereditary hematologic malignancies through close communication and coordination between our pediatric and adult programs. Dedicated program members, including physicians, nurses, genetic counselors, and clinical research assistants, screen individuals for cancer predisposition at initial diagnosis through survivorship, in addition to testing individuals with an established family history of a cancer predisposition syndrome. Sample procurement, such as a skin biopsy at the time of bone marrow aspirate/biopsy in individuals with a positive screen, has facilitated timely identification of clinical germline findings or has served as a pipeline for translational research. Our integrated translational research program has led to the identification of novel syndromes in collaboration with other investigators, which have been incorporated iteratively into our clinical pipeline. Individuals are referred for clinical assessment based on personal and family history, identification of variants in susceptibility genes via molecular tumor testing, and during evaluation for matched related allogeneic stem cell transplantation. Upon referral, genetic counseling incorporates education with mindfulness of the psychosocial issues surrounding germline testing at different ages. The training and role of genetic counselors continues to grow, with the discovery of new predisposition syndromes, in the age of improved molecular diagnostics and new models for service delivery, such as telemedicine. With the identification of new syndromes that may predispose individuals to hematologic malignancies, surveillance guidelines will continue to evolve and may differ between children and adults. Thus, utilizing a collaborative approach between the pediatric and adult oncology programs facilitates care within families and optimizes the diagnosis and care of individuals with cancer predisposition syndromes.

Hereditary diffuse gastric cancer: multidisciplinary case report with review of the literature.

Hereditary diffuse gastric cancer (HDGC) is a rare, inherited cancer syndrome with at least one fourth of HDGC patients having an autosomal dominantly inherited mutation of CDH1 (E-Cadherin). Penetrance is relatively high (70-80% lifetime risk for gastric cancer). It is important for pathologists to recognize the syndrome's phenotype in early gastric lesions: patchy intramucosal signet ring cells often associated with pagetoid spread. Due to the insidious nature of this lesion, surveillance is limited and currently prophylactic gastrectomy is an option chosen by many HDGC patients. We present a case report from a multidisciplinary team of authors with a review of the literature that includes the updated guidelines for CDH1 genetic testing.