Hemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemia
Document Type
Journal ArticlePublication Date
2010-12-15Keywords
Child, PreschoolFemale
Heterozygote
Humans
Killer Cells, Natural
Leukemia, Monocytic, Acute
Lymphohistiocytosis, Hemophagocytic
Membrane Proteins
Mutation
Perforin
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Prognosis
Qa-SNARE Proteins
Hematology
Oncology
Pediatrics
Metadata
Show full item recordAbstract
Hemophagocytic lymphohistiocytosis (HLH) is a rare histiocytic reactive process due to mutations in the perforin, MUNC13-4 or syntaxin 11 genes, or secondary to malignancy, infection or autoimmune disorder. HLH as a preceding diagnosis to leukemia is rare. We report two cases with progression to acute leukemia, one heterozygous for MUNC13-4 and the other with reduced natural killer (NK) cell function and perforin expression. These defects may predispose to a secondary HLH-like presentation of pre-clinical leukemia or confer increased susceptibility to malignancy. HLH patients with genetic mutations or NK cell function abnormalities need monitoring for future malignancy even if the HLH resolves.Source
2010 Dec 15. Link to article on publisher's websiteDOI
10.1002/pbc.22846Permanent Link to this Item
http://hdl.handle.net/20.500.14038/43331PubMed ID
21370424Related Resources
Link to article in PubMedae974a485f413a2113503eed53cd6c53
10.1002/pbc.22846