title: Assessment of clinical findings, tryptase levels, and bone marrow histopathology in the management of pediatric mastocytosis.
abstract: BACKGROUND
  The management of children with pediatric mastocytosis poses a challenge. This is because there is limited information as to the application of clinical and laboratory findings and bone marrow histopathology as they relate to medical intervention and communication.
  
  
  OBJECTIVE
  We sought to examine clinical aspects of pediatric mastocytosis in relationship to serum tryptase levels and bone marrow pathology to provide practical guidance for management.
  
  
  METHODS
  Between 1986 and 2012, 105 children were evaluated at the National Institutes of Health. Organomegaly was confirmed by means of ultrasound. Baseline tryptase levels and at least 1 subsequent tryptase measurement was available in 84 and 37 of these children, respectively. Fifty-three children underwent a bone marrow examination. These data were used to examine relationships between clinical findings, tryptase levels, and marrow histopathology.
  
  
  RESULTS
  In patients with high tryptase levels and severe mediator symptoms, all with organomegaly had systemic disease, and none without organomegaly had systemic disease. Serum tryptase levels differed significantly between patients with urticaria pigmentosa and those with diffuse cutaneous (P < .0001) and systemic mastocytosis (P < .0001) and in all 3 categories versus control subjects (P < .0001). Tryptase levels and symptoms decreased over time in most patients, and tryptase levels correlated with bone marrow mast cell burden in patients with systemic mastocytosis (P < .0001). There was a significant relationship between clinical resolution and the percentage decrease in tryptase levels (P = .0014).
  
  
  CONCLUSIONS
  The majority of children experienced major or complete disease resolution (57%), whereas the remainder exhibited partial improvement. Organomegaly was a strong indicator of systemic disease. Serum tryptase levels furthered classification and reflected clinicopathologic findings, while sequential tryptase measurements were useful in supplementing clinical judgment as to disease course.
authors.affiliation: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: mcarter@niaid.nih.gov.
authors.forename: Melody C
authors.initials: MC
authors.lastname: Carter
authors.affiliation: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
authors.forename: Sarah T
authors.initials: ST
authors.lastname: Clayton
authors.affiliation: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
authors.forename: Hirsh D
authors.initials: HD
authors.lastname: Komarow
authors.affiliation: Biostatistics Research Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
authors.forename: Erica H
authors.initials: EH
authors.lastname: Brittain
authors.affiliation: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
authors.forename: Linda M
authors.initials: LM
authors.lastname: Scott
authors.affiliation: Department of Nursing, Clinical Center, National Institutes of Health, Bethesda, Md.
authors.forename: Daly
authors.initials: D
authors.lastname: Cantave
authors.affiliation: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
authors.forename: Donna M
authors.initials: DM
authors.lastname: Gaskins
authors.affiliation: Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Md.
authors.forename: Irina
authors.initials: I
authors.lastname: Maric
authors.affiliation: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
authors.forename: Dean D
authors.initials: DD
authors.lastname: Metcalfe
mesh_terms: D000293:Adolescent; D000328:Adult; D001853:Bone Marrow / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D007223:Infant; D008297:Male; D008407:Mast Cells / Q000276:immunology; D034701:Mastocytosis, Cutaneous / Q000097:blood / Q000000981:diagnostic imaging / Q000276:immunology / Q000473:pathology; D034721:Mastocytosis, Systemic / Q000097:blood / Q000000981:diagnostic imaging / Q000276:immunology / Q000473:pathology; D011379:Prognosis; D053802:Tryptases / Q000097:blood*; D014463:Ultrasonography; D055815:Young Adult
chemical_list: D007073:Immunoglobulin E; D053802:Tryptases
keywords: Mast cells; bone marrow examination; cutaneous mastocytosis; diffuse cutaneous mastocytosis; mastocytosis; tryptase; urticaria pigmentosa