Ann Lab Med.  2015 Mar;35(2):260-262. 10.3343/alm.2015.35.2.260.

De novo Leukemic Variant of Mast Cell Leukemia With KIT D816V

Affiliations
  • 1Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital, Seoul, Korea. rpark@schmc.ac.kr
  • 2Department of Pathology, Soonchunhyang University Seoul Hospital, Seoul, Korea.
  • 3Department of Internal Medicine, Soonchunhyang University Seoul Hospital, Seoul, Korea.
  • 4Department of Laboratory Medicine, The Catholic University College of Medicine, Seoul, Korea.

Abstract

No abstract available.


MeSH Terms

Base Sequence
Bone Marrow/pathology
DNA Mutational Analysis
Exons
Female
Humans
Immunophenotyping
Leukemia, Mast-Cell/*diagnosis/genetics
Middle Aged
Mutation
Polymerase Chain Reaction
Proto-Oncogene Proteins c-kit/*genetics
Proto-Oncogene Proteins c-kit

Figure

  • Fig. 1 Serial peripheral blood analysis of mast cells, bone marrow aspirate smear, bone marrow trephine biopsy section, and immunohistochemical staining for CD117 and CD68. Peripheral blood cells stained with Wright-Giemsa (×1,000) (A-F): (A) Circulating round mast cells with eccentric oval nucleus, (B) Spindle-shaped mast cells, (C) Hypogranulated mast cells with coalescent granules, (D) Focal granules accumulated in mast cells, (E) Undifferentiated immature cells with metachromatic granules, (F) Ungranulated blasts with prominent nucleoli. Bone marrow aspirate stained with Wright-Giemsa (×400): (G) Ungranulated and metachromatic blasts, atypical bi-lobed promastocytes, and mature mast cells with elongated nuclei and hypogranular cytoplasm on bone marrow aspirate smear. Bone marrow trephine biopsy section stained with hemolysin and eosin (×200): (H) Hypercellular marrow with diffuse and interstitial infiltration of mast cells. Positive immunohistochemistry for CD117 (I) and CD68 (J).

  • Fig. 2 Immunophenotypic findings of peripheral blood and sequence analysis of KIT gene. (A) Atypical mast cells with intermediate CD45 expression show positive results for CD203c and CD25, and negative results for CD2. (B) A heterozygous mutation of c.2447A>T in exon 17 is noted (arrow).


Reference

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