Fanconi Anemia Chromosome Breakage Analysis Essay

Author

Jeffrey M Lipton, MD, PhD Professor of Pediatrics and Molecular Medicine, Hofstra North Shore-Long Island Jewish School of Medicine; Professor, Elmezzi Graduate School of Molecular Medicine; Director, Patient-Oriented Research, Feinstein Institute for Medical Research; Director, Pediatric Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center of New York

Jeffrey M Lipton, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American Pediatric Society, Children's Oncology Group, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Blanche P Alter, MD, MPH, FAAP Senior Clinician, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute; Adjunct Faculty, Medical Genetics Fellowship Program, National Human Genome Research Institute; Visiting Professor of Pediatrics, part time, Johns Hopkins School of Medicine; Adjunct Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

Blanche P Alter, MD, MPH, FAAP is a member of the following medical societies: Alpha Omega Alpha, American Pediatric Society, American Society for Clinical Investigation, American Society of Hematology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven K Bergstrom, MD Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland

Steven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, Children's Oncology Group, American Society of Clinical Oncology, International Society for Experimental Hematology, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Chief Editor

Jennifer Reikes Willert, MD Associate Clinical Professor, Department of Pediatrics, Division of Pediatric Hematology/Oncology, Section of Stem Cell Transplantation, Stanford University Medical Center, Lucile Packard Children's Hospital

Jennifer Reikes Willert, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society for Blood and Marrow Transplantation, Children's Oncology Group, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Additional Contributors

J Martin Johnston, MD Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Hematology/Oncology, The Children's Hospital at Memorial University Medical Center; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital

J Martin Johnston, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, International Society of Paediatric Oncology

Disclosure: Nothing to disclose.

Acknowledgements

The authors acknowledge the support and encouragement of their patients, their families, and referring physicians. This research was supported (in part) by the Intramural Research Program of the NIH and the National Cancer Institute.

When possible, please notify our laboratory 24-48 hours in advance of sending a sample for this test.

Blood is exposed to Mitomycin C (MMC) and/or Diepoxybutane (DEB) which leads to an increased rate of chromosome breakage in patients with Fanconi anemia (FA). Chromosome breakage after exposure to MMC and/or DEB is diagnostic for FA but cannot determine the Fanconi anemia complementation group. Additional send-out testing would be necessary to determine a specific gene associated with the specific complementation group; there are at least 16 different genes known to be associated with FA.

Our laboratory currently offers two methods of inducing chromosome breakage in lymphocyte cultures for the diagnosis of Fanconi anemia:  MMC-induced and DEB-induced Breakage Study.

  • Three cultures are initiated for each patient:  1) 72-hour PHA-stimulated culture with MMC, 2) 72-hour PHA-stimulated culture with DEB, and 3) 72-hour PHA-stimulated culture. The 72-hour culture without MMC or DEB is used to measure spontaneous breakage as opposed to chemically induced breakage. Non-Fanconi anemia controls for each method used must also be set up to establish a base-line of chromosome breakage for the laboratory. Each of the above cultures must be scored for any chromosome aberrations.
  • While chromosome breakage studies are critical in the diagnosis of Fanconi anemia in the affected patient, testing for other at-risk family members requires knowledge of the specific disease-causing mutations in the family. These mutations cannot be identified using the chromosome breakage or other studies performed in our laboratory. Please contact a Laboratory Director or Genetic Counselor should you have questions.

0 thoughts on “Fanconi Anemia Chromosome Breakage Analysis Essay”

    -->

Leave a Comment

Your email address will not be published. Required fields are marked *