Document Detail

Pediatric Mast Cell Sarcoma of Temporal Bone With Novel L799F (2395 C>T) KIT Mutation, Mimicking Histiocytic Neoplasm.
MedLine Citation:
PMID:  23388130     Owner:  NLM     Status:  In-Data-Review    
Mast cell sarcoma (MCS) is an extremely rare neoplasm with a clinically aggressive course. Because of its rarity, its morphologic and molecular characteristics are still not well defined. We report a case of a 15-year-old girl with MCS of the temporal bone extending into the posterior fossa creating a mass effect. The lesion mimicked a histiocytic neoplasm morphologically, but showed a novel KIT missense mutation, L799F (2395 C>T). The KIT D816V mutation is frequently found in systemic mastocytosis, but it has not been documented in the few reported human MCS cases. However, 1 reported case of MCS has shown a different alteration in the KIT gene. Our case is the first MCS case with L799F mutation, located between the catalytic loop (790 to 797) and the activation loop (810 to 837) of the KIT gene, and only the second case of MCS with KIT mutation documented in the literature. Proximity of the L799F mutation to the enzymatic region of the KIT tyrosine kinase domain may induce resistance to tyrosine kinase inhibitors.
Young S Kim; Huiqing Wu; Anna B Pawlowska; Marnelli A Bautista-Quach; Qin Huang; Karl Gaal; Karen L Chang
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The American journal of surgical pathology     Volume:  37     ISSN:  1532-0979     ISO Abbreviation:  Am. J. Surg. Pathol.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-07     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7707904     Medline TA:  Am J Surg Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  453-8     Citation Subset:  IM    
Departments of *Pathology †Pediatrics, City of Hope National Medical Center ‡Department of Pathology, Kaiser Permanente Southern California, CA.
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