000			03066cam a2200349 a 4500
003			EG-GiCUC
005			20250223032721.0
008			210328s2021 ua dh f m 000 0 eng d
040			_aEG-GiCUC _beng _cEG-GiCUC
041	0		_aeng
049			_aDeposite
097			_aM.Sc
099			_aCai01.12.25.M.Sc.2021.So.M
100	0		_aSohaila Ahmed Bahaa Eldein Mohamed Eldeweny
245	1	0	_aMPL W515L/K mutations in myeloproliferative neoplasms / _cSohaila Ahmed Bahaa Eldein Mohamed Eldeweny ; Supervised Hosny Ibrahim Mohamed Mostafa , Ghada Mohamed Elsayed , Mohamed Abdelmooti Samra
246	1	5	_aالطفرة الجينية ام بى ال دبليو ٥١٥ ال/كى فى الاورام الميلودية التكاثرية
260			_aCairo : _bSohaila Ahmed Bahaa Eldein Mohamed Eldeweny , _c2021
300			_a68 P. : _bcharts , facsimiles ; _c25cm
502			_aThesis (M.Sc.) - Cairo University - Faculty of Science - Department of Biotechnology
520			_aMyeloproliferative neoplasms (MPNs) describe a group of diseases involving the bone marrow. Classical MPNs are subdivided into chronic myelogenous leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). These subdivisions are made according to the presence of Philadelphia chromosome. CML are always Philadelphia (BCR-ABL) positive while PV, ET, and PMF are always negative. JAK2 p.Val617Phe point mutation is the most associated mutation in BCR/ABL negative MPNs. The frequency of JAK2 p.Val617Phe is 90-95% in PV patients, 50%-60% in ET, and 40-50% in patients with PMF. Studies on MPL gene revealed a gain of function mutations in JAK2 p.Val617Phe negative myeloproliferative neoplasms (MPNs). MPL p. W515L/K mutations are the most common across all mutations in MPL gene. The prevalence of these mutations over the Egyptian population is not clear enough. In this study we have investigated the frequency of MPL p.W515L/K and JAK2 p.Val617Phe mutations in 60 patients with MPNs using ARMS technique. BCR/ABL positive patients were excluded from the study. All patients were referred to the outpatient clinic of Nasser Institute hospital Cairo, Egypt. The study was carried out between February 2016 and January 2018. The diagnosis of MPNs was based on the World Health Organization criteria 2016 revision. Median age was 51 years (22-73). Splenomegaly was found in ET patients with higher frequency. JAK2 p.Val617Phe mutation was detected in 28 (46.7%) patients with no significant difference between the three groups, p = 0.143. All patients were negative for both mutations of the MPL p.W515L and MPL p.W515K
530			_aIssued also as CD
653		4	_aJAK2 p. Val617Phe
653		4	_aMPL p. W515L/K
653		4	_aMPNs
700	0		_aGhada Mohamed Elsayed , _eSupervisor
700	0		_aHosny Ibrahim Mohamed Mostafa , _eSupervisor
700	0		_aMohamed Abdelmooti Samra , _eSupervisor
856			_uhttp://172.23.153.220/th.pdf
905			_aNazla _eRevisor
905			_aShimaa _eCataloger
942			_2ddc _cTH
999			_c80429 _d80429