Prognostic impact of NOTCH1, MYD88 and SF3B1 mutations in Polish population of chronic lymphocytic leukemia patients

Putowski, Maciej; Podgórniak, Marta; Piróg, Marta; Knap, Joanna; Zaleska, Joanna; Purkot, Joanna; Zawiślak, Jacek; Zakrzewska, Ewelina; Karczmarczyk, Agnieszka; Własiuk, Paulina; Subocz, Edyta; Giannopoulos, Krzysztof

doi:10.20452/pamw.3998

Cited by 10 publications

(13 citation statements)

References 23 publications

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“…The prognostic role of NOTCH1 mut has been investigated during the last few years. 10 , 12 , 21 , 26 , 27 There was evidence that patients at progression as well as relapse, had more frequently NOTCH1 mut . 8 , 10 , 21 It was confirmed that NOTCH1 mut was predominantly clonal in advanced CLL.…”

Section: Discussionmentioning

confidence: 99%

The Predominant Prognostic Significance of NOTCH1 Mutation Defined by Emulsion PCR in Chronic Lymphocytic Leukemia

Skórka¹,

Chojnacki²,

Masternak³

et al. 2021

CMAR

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Section: Discussionmentioning

confidence: 99%

The Predominant Prognostic Significance of NOTCH1 Mutation Defined by Emulsion PCR in Chronic Lymphocytic Leukemia

Skórka¹,

Chojnacki²,

Masternak³

et al. 2021

CMAR

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“…Next-generation sequencing has identified new genomic abnormalities in CLL patients, such as NOTCH1 and SF3B1 mutations. Both have negative prognostic significance, but the SF3B1 mutation has already been accepted as an independent prognostic factor [22]. Affecting up to 15% CLL patients and significantly overrepresented in the trisomy 12 cytogenetic, NOTCH1 mutations are known to show poor prognosis [26].…”

Section: Discussionmentioning

confidence: 99%

“…SF3B1 mutations (K700, E622/R625, and H662/K666) were confirmed by Sanger sequencing method. Detection of SF3B1, NOTCH1, MYD88 L265P, and IGHV mutation status were assessed as previously described in detail [22]. A cut-off of 98% germline homology was used to assess IGHV mutation status.…”

Section: Notch1 Myd88 Sf3b1 and Ighv Mutationsmentioning

confidence: 99%

The prognostic impact of CD49d protein and mRNA expression in patients with chronic lymphocytic leukaemia

et al. 2021

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IntroductionThis research aimed to study CD49d expression – a potential prognosis marker in chronic lymphocytic leukaemia (CLL) patients – at the protein and mRNA levels. It was analysed in terms of time to first treatment and compared to currently known prognostic markers and novel molecular markers.Material and methodsUsing samples from 199 newly diagnosed CLL patients, we conducted immunophenotypical analyses of CD49d with flow cytometry, and assessed its expression on the mRNA level using quantitative polymerase chain reaction (PCR).ResultsCytometric analysis showed significantly higher expression of CD49d protein in ZAP-70+ (cut-off of 20%) patients than that in ZAP-70 patients (18.52 vs. 6.57, p = 0.028), and a tendency of higher CD49d expression in CD38+ patients than in CD38 patients (20.48 vs. 7.25, p = 0.072). CD49d expression significantly correlated with serum β2-microglobulin (r = 0.273, p = 0.012) and lactate dehydrogenase activity (r = 0.159, p < 0.01). Analysed in subgroups divided according to novel mutations, CD49d expression showed a tendency to be higher in MUT SF3B1 (93.98 vs. 7.86, p = 0.06) and MUT NOTCH1 (18.52 vs. 7.86, p = 0.140) groups than in the corresponding UNMUT groups. CD49d expression did not affect the time to first treatment at protein or mRNA level.ConclusionsHigh CD49d expression at the protein level accompanies aggressive biological markers in CLL patients, indicating its prognostic potential. It can thus be used to identify patients with poor clinical CLL prognosis.

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“…Other novel mutations such as NOTCH1, SF3B1 and BIRC3 do not guide therapeutic choices. Nevertheless, they constitute markers of unfavorable prognosis of CLL, rapid progression and shorter OS [96]. …”

Section: Discussionmentioning

confidence: 99%

Novel prognostic molecular factors: a quantum leap in the field of chronic lymphocytic leukemia

Zakrzewska

Piróg

Purkot

et al. 2017

Folia Histochem Cytobiol.

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Cytogenetic lesions do not completely explain clinical heterogeneity of chronic lymphocytic leukemia (CLL). The 2016 revision of the World Health Organization classification 2008 indicated that molecular lesions of TP53, NOTCH1, SF3B1 and BIRC3 have potential clinical relevance and could be integrated into an updated risk profile. The negative clinical implications of TP53 disruptions are well constituted and patients with these mutations should be considered for novel, small molecule signal transduction inhibitors therapies. Mutations of NOTCH1, SF3B1 and BIRC3 are associated with poor prognosis. Patients with mutated SF3B1 or NOTCH1 genes present shorter time to first treatment compared to unmutated group. NOTCH1 mutations are related to a high risk of Richter's syndrome transformation, especially in case of TP53 disruptions' coexistence. Large studies on MYD88 mutations in CLL have not explained clearly their clinical importance. The aim of this paper is to provide a comprehensive review on novel molecular aberrations identified in CLL.

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Prognostic impact of NOTCH1, MYD88 and SF3B1 mutations in Polish population of chronic lymphocytic leukemia patients

Cited by 10 publications

References 23 publications

The Predominant Prognostic Significance of NOTCH1 Mutation Defined by Emulsion PCR in Chronic Lymphocytic Leukemia

The Predominant Prognostic Significance of NOTCH1 Mutation Defined by Emulsion PCR in Chronic Lymphocytic Leukemia

The prognostic impact of CD49d protein and mRNA expression in patients with chronic lymphocytic leukaemia

Novel prognostic molecular factors: a quantum leap in the field of chronic lymphocytic leukemia

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