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Καταχωρήθηκε: Πέμπτη 08 Αύγ 2019
We discussed a case of a young AML patient with  PTPN11 mutated (Glu76Lys, missense, NPM1 neg/ flt3 ITD neg)

In a study (Hou et al, Leukemia volume 22, pages 1075–1078 (2008)  (https://doi.org/10.1182/blood-2018-99-110319) PTPN11 mutations were found in 5.1% adult AML patients and they were exclusively missense mutations.  Typically, they were found in elderly persons and had higher incidence of M4/M5 subtype, CD14 expression, a normal karyotype and concurrent NPM1 mutation, but no alteration of the FLT3 in leukemia cells.

Significance:
Pediatric patients: Tartaglia et al. revealed that the PTPN11 mutation constituted no prognostic significance for pediatric patients with AML. 
Adult AML: similar findings were found for adult AML (Hou et al (Leukemia volume 22, pages 1075–1078 (2008)). The complete remission rate (75 vs 62%), the overall survival (median 13±8.95 vs 25.5±6.54 months, ) and relapse-free survival (19±3.27 vs 25±14.04 months) were similar between patients with and without PTPN11 mutations.
- However, subgroup analysis did reveal that the PTPN11 mutation was a poor risk factor for overall survival of AML patients who did not have NPM1 mutations (P=0.001).
- In another study (MD Anderson) authors evaluated the Impact of variant allele frequency and found that Variant allelic frequency (VAF) for mutant PTPN11 with a cutoff of 0.4 further stratified poor risk AML into very poor (VAF ≥0.4; mOS = 194 days (Range 18-305)) and poor (VAF < 0.4; mOS = 314 days (Range 3-645)), [P = 0.01; HR 6.16, CI 95% 1.5-24.6). (https://ascopubs.org/doi/abs/10.1200/JCO.2018.36.15_suppl.7046)

Elderly AML patients
In another recent retrospective analysis, about 10% were found to be PTPN11 mutated in an older age group of AML patients. Their data data suggest that in these lederly patients (medain age 70 years) the presence of PTPN11 is associated with an aggressive disease with poor outcome and treatment resistance.
 
Open questions: What is the pathophysiology of this mutation? Is this a class I or class II mutation? How is the counteplay between PTPN11 mutations and other mutations? Are there therapeutic targets?
 
Presenter: Dr Verigou
Participants: Prof Spyridonidis, Dr Liga, Dr Fragopanagou, Dr Spyridis
 

 

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