Morphologically occult systemic mastocytosis in bone marrow: clinicopathologic features and an algorithmic approach to diagnosis.

Abstract:

OBJECTIVES:Bone marrow (BM) biopsy specimens involved by systemic mastocytosis (SM) typically show multifocal, compact, dense aggregates of spindled mast cells (MCs). However, some cases lack aggregate formation and fulfill the World Health Organization 2008 criteria for SM, based on minor criteria. METHODS:We identified 26 BM cases of KIT D816V-mutated, morphologically occult SM in the BM. RESULTS:All patients had some combination of allergic/MC activating symptoms. Peripheral blood counts were generally normal. BM aspirates showed 5% or less MCs, which were only occasionally spindled. BM biopsy specimens showed no morphologic classic MC lesions. Tryptase immunohistochemistry (IHC) demonstrated interstitial, individually distributed MCs (up to 5%) with prominent spindling, lacking aggregate formation. MCs coexpressed CD25 by IHC and/or flow cytometry. Spindled MCs constituted more than 25% of total MCs in all cases and more than 50% in 20 of 26 cases. CONCLUSIONS:Morphologically occult involvement of normal-appearing BM by SM will be missed without appropriate clinical suspicion and pathologic evaluation by tryptase and CD25 IHC and KIT D816V mutation analysis. On the basis of these findings, we propose a cost-effective, data-driven, evidence-based algorithmic approach to the workup of these cases.

journal_name

Am J Clin Pathol

authors

Reichard KK,Chen D,Pardanani A,McClure RF,Howard MT,Kurtin PJ,Wood AJ,Ketterling RP,King RL,He R,Morice WG,Hanson CA

doi

10.1309/AJCPSGQ71GJQQACL

subject

Has Abstract

pub_date

2015-09-01 00:00:00

pages

493-502

issue

3

eissn

0002-9173

issn

1943-7722

pii

144/3/493

journal_volume

144

pub_type

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