Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia.

@article{Prontera2011GermlinePM,
  title={Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia.},
  author={Paolo Prontera and Francesca Pantaleoni and Simone Martinelli and Elena Mastrodicasa and Gabriela Stangoni and Giancarlo Barboni and M Tartaglia and Franco Aversa and Emilio Donti},
  journal={Leukemia research},
  year={2011},
  volume={35 3},
  pages={e13-4}
}
Juvenile myelomonocitic leukemia (JMML) is an aggressive lonal myeloproliferative disorder (MPD) that occurs mostly in nfancy or early childhood, being the median age at diagnosis 4 months. Somatic mutations affecting genes involved in the as-mitogen-activated protein kinase (MAPK) pathway are responible for about 80% of JMML (PTPN11 35%, KRAS/NRAS 25%, CBL 0%, NF1 11%) [1,2]. Instead, germ-line mutations in the PTPN11 ene are responsible for about 50% of Noonan syndrome (NS), a evelopmental… CONTINUE READING

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Juvenile myelomonocitic leukemia ( JMML ) is an aggressive lonal myeloproliferative disorder ( MPD ) that occurs mostly in nfancy or early childhood , being the median age at diagnosis 4 months .
Juvenile myelomonocitic leukemia ( JMML ) is an aggressive lonal myeloproliferative disorder ( MPD ) that occurs mostly in nfancy or early childhood , being the median age at diagnosis 4 months .
Juvenile myelomonocitic leukemia ( JMML ) is an aggressive lonal myeloproliferative disorder ( MPD ) that occurs mostly in nfancy or early childhood , being the median age at diagnosis 4 months .
Juvenile myelomonocitic leukemia ( JMML ) is an aggressive lonal myeloproliferative disorder ( MPD ) that occurs mostly in nfancy or early childhood , being the median age at diagnosis 4 months .
Juvenile myelomonocitic leukemia ( JMML ) is an aggressive lonal myeloproliferative disorder ( MPD ) that occurs mostly in nfancy or early childhood , being the median age at diagnosis 4 months .
Juvenile myelomonocitic leukemia ( JMML ) is an aggressive lonal myeloproliferative disorder ( MPD ) that occurs mostly in nfancy or early childhood , being the median age at diagnosis 4 months .
Noonan SyndromeMay be associated disease of diseaseJuvenile Myelomonocytic Leukemia
Instead , germ - line mutations in the PTPN11 ene are responsible for about 50% of Noonan syndrome ( NS ) , a evelopmental disorder that occasionally displays MPD sharing imilarities with JMML .
Instead , germ - line mutations in the PTPN11 ene are responsible for about 50% of Noonan syndrome ( NS ) , a evelopmental disorder that occasionally displays MPD sharing imilarities with JMML .
Juvenile myelomonocitic leukemia ( JMML ) is an aggressive lonal myeloproliferative disorder ( MPD ) that occurs mostly in nfancy or early childhood , being the median age at diagnosis 4 months .
Juvenile myelomonocitic leukemia ( JMML ) is an aggressive lonal myeloproliferative disorder ( MPD ) that occurs mostly in nfancy or early childhood , being the median age at diagnosis 4 months .
Instead , germ - line mutations in the PTPN11 ene are responsible for about 50% of Noonan syndrome ( NS ) , a evelopmental disorder that occasionally displays MPD sharing imilarities with JMML .
So far , data from the literature indicate that PTPN11 mutations ssociated with syndromic and non - syndromic JMML / MPD cluster n exon 3 ( 90% ) and 13 ( 10% ) and these represent the only coding ortions of the gene screened in the majority of patients , in both urope and United States [ 2,3 ] .
While the clonal proliferative advantage in on - syndromic JMML cells results from acquired PTPN11 lesions riving to enhanced signal flow through the RAS – MAPK pathay , MPD occurring in NS is associated to a relatively narrow pectrum of germ - line mutations that have less potency in dysreglating this signalling cascade [ 2 ] .
Somatic mutations affecting genes involved in the as - mitogen - activated protein kinase ( MAPK ) pathway are responible for about 80% of JMML ( PTPN11 35% , KRAS / NRAS 25% , CBL 0% , NF1 11% ) [ 1,2 ] .
Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia .
Instead , germ - line mutations in the PTPN11 ene are responsible for about 50% of Noonan syndrome ( NS ) , a evelopmental disorder that occasionally displays MPD sharing imilarities with JMML .
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