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The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease
| Content Provider | Scilit |
|---|---|
| Author | Kratz, Christian P. Niemeyer, Charlotte M. Castleberry, Robert P. Cetin, Mualla Bergsträsser, Eva Emanuel, Peter D. Hasle, Henrik Kardos, Gabriela Klein, Cornelia Kojima, Seiji Stary, Jan Trebo, Monika Zecca, Marco Gelb, Bruce D. Tartaglia, Marco Loh, Mignon L. |
| Copyright Year | 2005 |
| Description | Germ line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS). Somatic mutations in PTPN11 occur in 35% of patients with de novo, nonsyndromic juvenile myelomonocytic leukemia (JMML). Myeloproliferative disorders (MPDs), either transient or more fulminant forms, can also occur in infants with NS (NS/MPD). We identified PTPN11 mutations in blood or bone marrow specimens from 77 newly reported patients with JMML (n = 69) or NS/MPD (n = 8). Together with previous reports, we compared the spectrum of PTPN11 mutations in 3 groups: (1) patients with JMML (n = 107); (2) patients with NS/MPD (n = 19); and (3) patients with NS (n = 243). Glu76 was the most commonly affected residue in JMML (n = 45), with the Glu76Lys alteration (n = 29) being most frequent. Eight of 19 patients with NS/MPD carried the Thr73Ile substitution. These data suggest that there is a genotype/phenotype correlation in the spectrum of PTPN11 mutations found in patients with JMML, NS/MPD, and NS. This supports the need to characterize the spectrum of hematologic abnormalities in individuals with NS and to better define the impact of the PTPN11 lesion on the disease course in patients with NS/MPD and JMML. (Blood. 2005;106:2183-2185) |
| Related Links | http://www.zora.uzh.ch/id/eprint/66276/1/blood2005.pdf |
| Ending Page | 2185 |
| Page Count | 3 |
| Starting Page | 2183 |
| DOI | 10.1182/blood-2005-02-0531 |
| Journal | Blood |
| Issue Number | 6 |
| Volume Number | 106 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 2005-09-15 |
| Access Restriction | Open |
| Subject Keyword | Hematology Bone Marrow Somatic Ptpn11 Spectrum Myelomonocytic Juvenile Leukemia Noonan Mutations Journal: Blood (Vol- 90, Issue- 6) |
| Content Type | Text |
| Resource Type | Article |
