Christine Duncan, MD
How does one determine when a patient with bone marrow failure needs an evaluation
for an inherited syndrome? Are a normal physical examination and blood smear
adequate to rule out the need for further evaluation? What is the most appropriate
way to test for a possible inherited marrow failure syndrome? These difficult
questions are faced by pediatric and adult hematologists whenever they peer through
a microscope objective at an empty, fat-filled marrow. In an era in which there
are more available tests for marrow syndromes than reality shows on primetime
television, it can be challenging to know which tests, if any, to obtain for
any given patient.
Today at 9:30 a.m. and tomorrow at 7:30 a.m., Drs. Akiko Shimamura, Rodrigo
Calado, and Christoph Klein will address the complexities of inherited bone
syndromes during the Education Program Session, which will take place in rooms
393-396 of the Ernest N. Morial Convention Center.
Dr. Shimamura of the Fred Hutchinson Cancer Research Center in Seattle will
begin by reviewing the classic signs and symptoms of marrow failure syndromes
and adult patients. Dr. Shimamura points out that it is important for hematologists
who treat only adults to recognize these features as well, as syndromes typically
considered the domain of pediatricians are also sometimes recognized in adulthood.
Her presentation will move beyond a review of the textbook description of the
inherited syndromes: she will discuss the challenging patient with atypical
presentations and reveal subtle clues from the physical examination, history,
that hint at an underlying syndrome. “Dr. Shimamura will review the differential
diagnosis and necessary genetic assays, and the increasingly challenging use
of laboratory support,” said Dr. David Nathan of Boston Children’s
Hospital, a pediatric hematologist with more than five decades of experience
in treating patients with marrow failure syndromes.
The session will then shift to an exploration of specific marrow disorders.
Dr. Rodrigo Calado from the National Institutes of Health in Bethesda will
studies that have elucidated the role of the telomere in marrow failure.
This is a timely discussion, as the Nobel Prize in Physiology or Medicine
this year for work on the telomere complex. Dr. Calado will explore the molecular
basis of the telomere complex, with insight into acquired and inherited marrow,
liver, and pulmonary failure.
To close the session, Dr. Klein from Hannover, Germany will describe current
understanding of the genetic foundation of marrow failure syndromes, including
a unique series of genes that lead to different pathways culminating in congenital
neutropenia. Dr. Klein will also review the clinical and immunologic features
of the inherited neutropenias.
The value of this session is highlighted by Dr. Nathan. “This is a critically
important session because it illustrates the important role of host genetics
in the development of bone marrow failure of all types. The session is a MUST
for hematologists who deal with cytopenias.”
Dr. Duncan indicated no relevant conflicts of interest.
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