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dc.contributor.authorChang, Tamara Y.
dc.contributor.authorJaffray, Julie
dc.contributor.authorWoda, Bruce A.
dc.contributor.authorNewburger, Peter E.
dc.contributor.authorUsmani, G. Naheed
dc.date2022-08-11T08:10:10.000
dc.date.accessioned2022-08-23T16:58:16Z
dc.date.available2022-08-23T16:58:16Z
dc.date.issued2010-12-15
dc.date.submitted2012-04-25
dc.identifier.citation2010 Dec 15. <a href="http://dx.doi.org/10.1002/pbc.22846">Link to article on publisher's website</a>
dc.identifier.issn1545-5009 (Linking)
dc.identifier.doi10.1002/pbc.22846
dc.identifier.pmid21370424
dc.identifier.urihttp://hdl.handle.net/20.500.14038/43331
dc.description.abstractHemophagocytic 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.
dc.language.isoen_US
dc.relation<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21370424&dopt=Abstract">Link to article in PubMed</a>
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059114/pdf/nihms234116.pdf
dc.subjectChild, Preschool
dc.subjectFemale
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectKiller Cells, Natural
dc.subjectLeukemia, Monocytic, Acute
dc.subjectLymphohistiocytosis, Hemophagocytic
dc.subjectMembrane Proteins
dc.subjectMutation
dc.subjectPerforin
dc.subjectPrecursor Cell Lymphoblastic Leukemia-Lymphoma
dc.subjectPrognosis
dc.subjectQa-SNARE Proteins
dc.subjectHematology
dc.subjectOncology
dc.subjectPediatrics
dc.titleHemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemia
dc.typeJournal Article
dc.source.journaltitlePediatric blood and cancer
dc.source.volume56
dc.source.issue5
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/peds_hematology/133
dc.identifier.contextkey2796624
html.description.abstract<p>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.</p>
dc.identifier.submissionpathpeds_hematology/133
dc.contributor.departmentDepartment of Pathology
dc.contributor.departmentDepartment of Pediatrics
dc.source.pages856-8


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