Grants Awarded

Principal Investigator and Co-Investigator
Barrett Rollins MD, PhD (PI)
Dana-Farber Cancer Institute – Boston, Massachusetts USA
Astrid G.S. van Halteren PhD (CI)
Leiden University Medical Center – Leiden, The Netherlands

Date of Award
December 2012

Amount of Award
$50,000

Layperson Summary
Langerhans cell histiocytosis (LCH) is a potentially devastating disease. Although many patients respond to
current treatments – a significant proportion do not. Even when current treatments do work, patients may be left
with severe disabilities. Therefore, we need new and better treatments for LCH. The best way to accomplish
this goal is by developing a thorough understanding of the basic molecular abnormalities that cause the
disease so that they can be targeted through treatment. This approach has been extraordinarily successful in
diseases like cancer and now should be applied to LCH. Thanks to the recent discovery of mutations in a
cancer-associated gene in LCH, we now know that, like cancer, LCH is driven by alterations or mutations in
genes that control the growth of cells. Although one such mutation has been found, again by analogy to
cancer, many more are likely to contribute to the development of LCH. In this study, we propose to use a
technology called “whole exome sequencing” to identify these additional abnormalities. This technology can
analyze the structure of all 20,000 human genes for alterations that might lead to changes in cellular
components that affect the accumulation of abnormal cells in LCH. When this analysis is completed, we will
have a catalog of some of the most important genetic changes associated with LCH. This information can then
be used to identify currently available therapies that have not yet been tried in LCH or to develop entirely new
treatments.

Twelve Month Report