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Utility of KIT Mutations in Myeloid Neoplasms Without Documented Systemic Mastocytosis to Detect Hidden Mast Cells in Bone Marrow.
Kim, Do Hwan; Jia, Fuli; Patel, Keyur P; Bose, Prithviraj; Wang, Sa A; Bueso-Ramos, Carlos; Ok, Chi Young.
Afiliación
  • Kim DH; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
  • Jia F; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
  • Patel KP; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
  • Bose P; Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX.
  • Wang SA; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
  • Bueso-Ramos C; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
  • Ok CY; Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address: cok@mdanderson.org.
Clin Lymphoma Myeloma Leuk ; 2024 Jul 15.
Article en En | MEDLINE | ID: mdl-39107203
ABSTRACT

BACKGROUND:

KIT p.D816 mutation is strongly associated with systemic mastocytosis (SM). Next-generation sequencing (NGS) is now routinely performed in almost all bone marrow sample and KIT mutations are detected from patients who are not known or suspected to have SM. Therefore, we wanted to assess if KIT mutations in this patient population are associated with unsuspected SM.

METHODS:

We searched NGS result in our institution with positive result for KIT mutation from patients with known/suspected myeloid neoplasms. Patients with previously documented history of systemic mastocytosis were excluded. Bone marrow biopsies from patients with KIT mutation were assessed with immunohistochemical stains for CD117 and mast cell tryptase (MST).

RESULTS:

Bone marrow biopsies were assessed with immunohistochemical stains for CD117 and mast cell tryptase (n = 49). Most patients had acute myeloid leukemia (AML, n = 38) or chronic myelomonocytic leukemia (CMML, n = 6). Immunohistochemical stains for CD117 and tryptase were performed in all 49 patients. A total of 4 patients (8.2%) showed mast cell nodules where spindled shaped mast cells were present, meeting the WHO criteria for SM. All four patients had KIT p.D816V mutation and had high mutant allelic frequency (∼ 50%) except one patient (1%).

CONCLUSION:

We discovered approximately 8% of patients who had myeloid neoplasms with unexpected KIT mutations fulfilled the diagnostic criteria for systemic mastocytosis after additional immunohistochemical studies. Our data support that application of additional immunohistochemical studies is recommended to identify underrecognized SM when KIT mutations are found by molecular assays.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Lymphoma Myeloma Leuk Asunto de la revista: NEOPLASIAS Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Lymphoma Myeloma Leuk Asunto de la revista: NEOPLASIAS Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos