Hematological Malignancies KIT - Mastocytosis

KIT gene mutations are present in the majority cases of mast cell disease/systemic mastocytosis.^1,2

• Adults
  • D816V mutation is present in 93% of cases³
  • Other mutations are rare (exon 17 D816Y, 815-817 indels; exon 11)
• Children⁴
  • D816V mutation is present in 36%
  • Exon 8 in 18% (mostly del 419)(hereditary in some cases)
  • Exon 9 in 20% (ITD 502-503; K509I) (hereditary in some cases)
  • Exon 11 (rare)

DNA is extracted and purified from fresh blood, bone marrow aspirate, paraffin-embedded bone marrow biopsy, clot or other tissue (e.g. skin, GI biopsy).

• Samples from adult patients are screened for the D816V mutation by real-time allele-specific PCR that includes an internal positive control for DNA quality.
  • Sensitivity: 1% mutant allele
• Samples from pediatric patients are screened for the D816V mutation by the above assay; negative samples are further screened for mutations in KIT exons 8, 9 & 11 by standard sequencing.
  • Sensitivity (exons 8, 9, 11): 20% mutant allele

Paraffin blocks or slides:

• A paraffin block, or
• 10 unstained sections of tumor (4-5 microns) (15 sections for small biopsies).

• Due to DNA damage, decalcified specimens are not recommended.

Blood or bone marrow:

• 2-10 mL Yellow (ACD) or purple (EDTA) tube (unspun)
• Bone marrow aspirates or cores are acceptable if received in the lab within 24 hours (room temperature) or 4 days (refrigerated; never frozen).

• Frozen cell pellets of bone marrow-derived leukocytes (without red blood cells) are also acceptable.

Deliver to lab at shipping address above within 24 hours of collection;  if sample cannot arrive within 24 hours, refrigerate until sample can be transported. 

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information.

Mon – Fri

7-10 days

• Package and ship specimen to remain cool during transit, but not frozen, unless shipping frozen pellets.
• Ship via overnight express, using the FedEx priority overnight label provided.

 Contact Client Services for shipping kits and instructions at (855) 535-1522.

1. Tefferi & Pardanani. Systemic mastocytosis: current concepts and treatment advances. Curr Hematol Rep. 3:197-202, 2004.
2. Pardanani et al. Imatinib for systemic mast-cell disease. Lancet. 362(9383):535-6, 2003.
3. Garcia-Montero et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 108:2366-72, 2006.
4. Bodemer et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations J Inves Dermatol 130:804-815, 2009.