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  • Title: THE SPECTRUM OF TP53, SF3B1, AND NOTCH1 MUTATIONS IN CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS EXPOSED TO IONIZING RADIATION DUE TO THE CHORNOBYL NPP ACCIDENT.
    Author: Bilous NI, Abramenko IV, Chumak AA, Dyagil IS, Martina ZV, Saenko V, Bazyka DA.
    Journal: Probl Radiac Med Radiobiol; 2018 Dec; 23():283-301. PubMed ID: 30582853.
    Abstract:
    OBJECTIVE: to analyze TP53, NOTCH1 and SF3B1 mutations in chronic lymphocytic leukemia (CLL) patients, sufferersof Chornobyl NPP accident to clarify the possible relationship between ionizing radiation (IR) and CLL. METHODS: Mutations of TP53, NOTCH1, and SF3B1 genes were studied by direct sequencing in the main group of 106 CLLpatients exposed to IR due to Chornobyl NPP accident and in the control group of 130 IR non-exposed CLL patients. RESULTS: We found TP53 and SF3B1 mutations with similar incidence in both groups - 11.3 % and 10.0 % in the maingroup, and 12.7 % and 11.5 % in the control group, respectively. In contrast, the frequency of NOTCH1 mutationswas lower in IR-exposed patients (6.7 % vs 17.7 %; p = 0.012). TP53 mutations were seen with equal frequency amongmutated (11.1 %) and unmutated (11.8 %) immunoglobulin heavy-chain variable gene (IGHV) cases in IR-exposedCLL patients, while the tendency to prevalence of TP53 mutations in unmutated compared with mutated IGHV caseswas found in the control group (14.1 % and 5.6 %, correspondingly; p = 0.178). In IR-exposed group SF3B1 muta-tions were combined with mutations in TP53 almost in half of detected cases. In opposite, in the control group therewas mutual exclusivity between SF3B1 and TP53 lesions (p = 0.001). Among IR-exposed CLL patients we found two dif-ferent cases with identical rare mutation of TP53 gene - c.665C>T substitution (Pro222Leu). This substitution is verylikely to represent inherited TP53 mutation, which may influence CLL development under IR exposure. CONCLUSION: Our preliminary data suggest that TP53 abnormalities are involved in CLL development in subjectsexposed at the Chornobyl accident and also a possible connection between inherited sensitivity to ionizing radia-tion caused by mutation in TP53, radiation and CLL development. Meta. Proanalizuvaty spektr mutatsiĭ geniv TP53, NOTCH1 ta SF3B1 u khvorykh na khronichnu limfotsytarnu leĭkemiiu(KhLL), iaki postrazhdaly vnaslidok avariï na Chornobyl's'kiĭ AES, dlia z’iasuvannia mozhlyvykh zv’iazkiv mizhionizuiuchym vyprominiuvanniam (IV) ta KhLL.Metody. Mutatsiï geniv TP53, NOTCH1 ta SF3B1 doslidzhuvaly shliakhom priamogo sekvenuvannia v osnovniĭ grupi 106khvorykh na KhLL, iaki zaznaly vplyvu IV vnaslidok avariï na Chornobyl's'kiĭ AES, a takozh u kontrol'niĭ grupi 130neoprominenykh khvorykh na KhLL.Rezul'taty. Chastota mutatsiĭ geniv TP53 i SF3B1 suttievo ne rozriznialas' v obokh grupakh i stanovyla, vidpovidno,11,3 % i 10,0 % u osnovniĭ ta 12,7 % i 11,5 % u kontrol'niĭ grupi. Vodnochas, chastota mutatsiĭ gena NOTCH1 bulanyzhchoiu u patsiientiv, iaki zaznaly vplyvu IV (6,7 % proty 17,7 % u kontroli; r = 0,012). V osnovniĭ grupi chastotamutatsiï gena TP53 bula odnakovoiu u vypadkakh z mutovanymy (11,1 %) i nemutovanymy (11,8 %) genamyvariabel'nykh dil'nyts' vazhkykh lantsiugiv imunoglobuliniv (IGHV), todi iak v kontrol'niĭ grupi vyiavlena tendentsiiado zbil'shennia chastoty mutatsiĭ TP53 u khvorykh z nemutovanymy IGHV genamy porivniano z mutovanymy IGHV genamy(14,1 % ta 5,6 %, r = 0,178). V osnovniĭ grupi mutatsiï geniv SF3B1 i TP53 maĭzhe u polovyny khvorykh zustrichalys'odnochasno. Navpaky, v kontrol'niĭ grupi isnuvala vzaiemna ekskliuzyvnist' mizh naiavnistiu mutatsiĭ geniv SF3B1 iTP53 (r = 0,001). Sered patsiientiv z KhLL, iaki zaznaly vplyvu IV, vyiavleno dva vypadky z identychnoiu ridkisnoiumutatsiieiu gena TP53 – zamishchennia c.665C-#062;T (Pro222Leu). Tsia zamina, ĭmovirno, ie vrodzhenym polimorfizmom genaTP53, shcho mozhe vplyvaty na rozvytok KhLL pid vplyvom IV.Vysnovok. Nashi poperedni dani svidchat', shcho porushennia gena TP53 zadiiani u rozvytku KhLL u khvorykh, oprominenykhpid chas avariï na Chornobyl's'kiĭ AES, a takozh pro mozhlyvyĭ zv’iazok vrodzhenoï chutlyvosti do ionizuiuchogovyprominiuvannia, obumovlenoï polimorfnymy variantamy TP53, z vplyvom radiatsiĭnogo oprominennia i rozvytkomKhLL.
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