PPM1D (Protein Phosphatase, Mg2+/Mn2+ Dependent 1D) Mutation Analysis is performed by next-generation sequencing (NGS) of all coding regions of the PPM1D gene. Germline and somatic mutation testing is available. Note: For germline testing (blood sample), patient and physician or genetic counselor signatures on the NeoGenomics Consent for Hereditary Cancer Genetic Testing form are required. Testing will be put on hold until signatures are received.
The PPM1D gene encodes Wip1 phosphatase which regulates p53 signaling, and both proteins play major roles in inhibiting growth and suppressing stress-induced apoptosis. Mutations in patients with MDS are associated with progression and poor outcome. Mutations are found in various other hematologic cancers and numerous types of solid tumors including brain, colon and other GI, endometrium, and skin. Gene amplifications, reported in some breast and ovarian tumors, will not be reliably detected in this sequencing test. Germline mutations with predisposition to ovarian, breast, and other tumors have also been reported.
- Peripheral blood: 5 mL in EDTA tube (signed NeoGenomics Consent for Hereditary Cancer Genetic Testing form required).
- Bone marrow: 2 mL in EDTA tube.
- FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.