| US 7,550,262 B2 | ||
| PTPN11 (SHP-2) mutations and cancer | ||
| Bruce D. Gelb, Dobbs Ferry, N.Y. (US); Marco Tartaglia, Rome (Italy); and Charlotte Niemeyer, Freiburg (Germany) | ||
| Assigned to Mount Sinai School of Medicine of New York University, New York, N.Y. (US) | ||
| Filed on Nov. 05, 2003, as Appl. No. 10/703,210. | ||
| Claims priority of provisional application 60/424170, filed on Nov. 05, 2002. | ||
| Prior Publication US 2004/0121384 A1, Jun. 24, 2004 | ||
| Int. Cl. C12Q 1/68 (2006.01); C12Q 1/44 (2006.01); C12P 19/34 (2006.01); C12M 1/34 (2006.01); C07H 21/00 (2006.01); C12N 9/16 (2006.01); C07H 21/04 (2006.01) | ||
| U.S. Cl. 435—6 [435/7.1; 435/19; 435/91.2; 435/91.51; 435/196; 435/287.2; 536/23.2; 536/23.5; 536/25.32] | 2 Claims |
| 1. A method for characterizing a hematologic disorder in a human subject comprising detecting in a sample from the subject the presence of a mutation in the subject's protein tyrosine phosphatase 11 (PTPN11) gene encoding any of the following amino acid substitutions in PTPN11: Glu76Gly, Glu76Val, Glu76Ala, Glu76Gln and Glu76Lys, wherein Glu76Gly is indicative of juvenile myelomonocytic leukemia (JMML) or acute lymphoblastic leukemia (ALL), Glu76Val is indicative of JMML, Glu76Ala is indicative of JMML or myelodysplastic syndrome (MDS), Glu76Gln is indicative of ALL, and Glu76Lys is indicative of JMML, ALL, or acute myeloid leukemia (AML). |