TY - JOUR
T1 - Well-differentiated systemic mastocytosis showed excellent clinical response to imatinib in the absence of known molecular genetic abnormalities
AU - Huang, Lanshan
AU - Wang, Sa A.
AU - Konoplev, Sergej
AU - Bueso-Ramos, Carlos E.
AU - Thakral, Beenu
AU - Miranda, Roberto N.
AU - Jabbour, Elias
AU - Medeiros, L. Jeffrey
AU - Kanagal-Shamanna, Rashmi
N1 - Publisher Copyright:
© 2016 the Author(s).
PY - 2016
Y1 - 2016
N2 - Introduction: Well-differentiated systemic mastocytosis (WDSM) is a rare, recently recognized provisional subvariant of systemic mastocytosis (SM). We report a case of WDSM that showed excellent clinical and cutaneous response to imatinib in the absence of known molecular genetic abnormalities. Clinical Findings/Diagnoses:We present a 24-year-old woman with childhood onset of skin manifestations that progressed to mediator-related systemic events, and a gastrointestinal tract mastocytoma. A subsequent bone marrow examination showed WDSM. Treatment with imatinib resulted in complete resolution of cutaneous lesions and systemic symptoms, which relapsed with the discontinuation of the drug. Targeted next-generation sequencing-based mutation analysis did not demonstrate any mutations in the coding regions of KIT or other genes commonly associated with myeloid neoplasms. Conclusions: The diagnosis of WDSM is challenging in the absence of spindle-shaped mast cells, CD2 or CD25 expression, and KIT D816 mutation. This case illustrated the need for recognizing this unique variant of SM for diagnostic and therapeutic implications.
AB - Introduction: Well-differentiated systemic mastocytosis (WDSM) is a rare, recently recognized provisional subvariant of systemic mastocytosis (SM). We report a case of WDSM that showed excellent clinical and cutaneous response to imatinib in the absence of known molecular genetic abnormalities. Clinical Findings/Diagnoses:We present a 24-year-old woman with childhood onset of skin manifestations that progressed to mediator-related systemic events, and a gastrointestinal tract mastocytoma. A subsequent bone marrow examination showed WDSM. Treatment with imatinib resulted in complete resolution of cutaneous lesions and systemic symptoms, which relapsed with the discontinuation of the drug. Targeted next-generation sequencing-based mutation analysis did not demonstrate any mutations in the coding regions of KIT or other genes commonly associated with myeloid neoplasms. Conclusions: The diagnosis of WDSM is challenging in the absence of spindle-shaped mast cells, CD2 or CD25 expression, and KIT D816 mutation. This case illustrated the need for recognizing this unique variant of SM for diagnostic and therapeutic implications.
KW - KIT D816
KW - imatinib
KW - systemic mastocytosis
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U2 - 10.1097/MD.0000000000004934
DO - 10.1097/MD.0000000000004934
M3 - Article
C2 - 27741105
AN - SCOPUS:85012843778
SN - 0025-7974
VL - 95
JO - Medicine (United States)
JF - Medicine (United States)
IS - 41
M1 - e4934
ER -