Abstract
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.
Highlights
As health-care professionals consider the diagnosis of inherited predisposition to hematopoietic malignancies increasingly in patients with a strong personal and family history [1], coordination between pediatric and adult care teams is critical for optimal assessment of all family members across the age spectrum
The identification of a germline syndrome is critical at the time of allogeneic stem cell transplant, since inadvertent use of an allogeneic stem cell donor who carries a germline predisposition mutation has resulted in recipients with failure to engraft, poor graft function, posttransplant lymphoproliferative disease, and donor-derived leukemias [10,11,12,13,14,15]
We recognize that the culturing process itself can result in acquisition of somatic mutations/genomic rearrangements, but in our experience, this artifact results in mosaic results detectable during clinical testing
Summary
As health-care professionals consider the diagnosis of inherited predisposition to hematopoietic malignancies increasingly in patients with a strong personal and family history [1], coordination between pediatric and adult care teams is critical for optimal assessment of all family members across the age spectrum. Communication and coordination between pediatric and adult hematology/medical oncology groups are the hallmarks of the approach utilized by The University of Chicago Hematopoietic Malignancies Cancer Risk Team. These unique aspects of our clinical program allow a unified and fluid approach that utilizes the expertise within both programs to provide age-appropriate counseling, assessment, and testing for all members of a family. Children and adult family members can be seen together, maintaining cohesive care within a family and continuity in counseling through joint counseling This approach has allowed patients to receive consistent care from childhood and adolescence to adulthood, bypassing age constraints and providing dual care for the adolescent and young adult population. From a cancer risk and management perspective, description of novel germline syndromes, such as our contributions to the recently described germline mutations in ETV6 and DDX41 [2,3,4], and SAMD9/ SAMD9L [5,6,7,8] have defined new familial predisposition syndromes, which have impacted the care and testing of both adults and their children, and further emphasize the importance of joint management
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