141
Views
8
CrossRef citations to date
0
Altmetric
Clinical Notes

Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion

, , , , &
Pages 754-758 | Received 16 Dec 2010, Accepted 19 Jan 2011, Published online: 23 Mar 2011
 

Abstract

We describe a child with thrombocytopenia-absent radius (TAR) syndrome in whom a refractory Langerhans cell histiocytosis (LCH) developed at 9 years. Recently, it has been demonstrated, in a large cohort of patients with TAR syndrome, that microdeletion on chromosome 1q21.1 is the characteristic genetic alteration. This genetic alteration was found in the affected son and in maternal lineage. Our data confirm the role played by the 1q21.1 microdeletion in the pathogenesis of TAR syndrome proposing a panel of polymorphic markers for a rapid and low-cost screening of 1q21.1 microdeletion. We do not know if the occurrence of two rare diseases as of TAR syndrome and LCH could be considered a chance association; at our knowledge, a genetic link does not seem to be present between the diseases. Descriptions of additional cases of LCH in patients with TAR syndrome are necessary before a cause and effect relationship can be proven.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.