Inherited Susceptibility to CLL

Speedy, Helen E.; Sava, Georgina P.; Houlston, Richard S.

doi:10.1007/978-1-4614-8051-8_13

Cited by 9 publications

(5 citation statements)

References 84 publications

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“…Although a predisposition related to familial inheritance has long been understood to play a significant role in the development of CLL, elucidation of the precise genetic means of pathogenesis is yet to be determined [7]. Numerous clues, however, are apparent.…”

Section: Discussionmentioning

confidence: 99%

Incidental skin manifestation of trisomy 12 chronic lymphocytic leukemia

Rodrigues¹,

Oh²,

Asllanaj³

et al. 2023

World J. Adv. Res. Rev.

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Chronic lymphocytic leukemia (CLL) is one of the most prevalent B-cell cancers for people over the age of 65. CLL is commonly comorbid with trisomy 12, as reported in up to 20% of cases. In our case, trisomy 12 was incidentally found on this patient. Its pathophysiology is quite unclear but has played a role in the side effect profile of CLL. Trisomy 12 with CLL has been shown to have increased risk for side effects like thrombocytopenia, Richter transformation and hematological cancers. The goal of this case presentation is to discuss a case of CLL with cutaneous manifestations and to look at the role that trisomy 12 can play.

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Section: Discussionmentioning

confidence: 99%

Incidental skin manifestation of trisomy 12 chronic lymphocytic leukemia

Rodrigues¹,

Oh²,

Asllanaj³

et al. 2023

World J. Adv. Res. Rev.

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“…CLL is influenced by genetic factors which is reflected by the facts that (i) CLL occurs mainly in Western populations and is rarely seen in Asians, 11 and (ii) the risk of first degree relatives is increased by approximately 7-fold. 12 Although, environmental factors, like infections and nutrition are presumably involved in disease etiology, the low incidence in Asians is most likely not due to environmental factors since also Asians living in the USA have a low incidence in developing CLL. 13 Interestingly, also in Western countries, which can be assumed to be genetically more similar than Asians and Caucasians, the highest incidences for CLL were observed in Italy, Ireland, USA, and Australia.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of a Prognostic Epigenetic Classification System in Chronic Lymphocytic Leukemia Patients

et al. 2022

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Background: Methylation at 5 CpG sites was previously shown to classify chronic lymphocytic leukemia (CLL) into 3 prognostic subgroups. Here, we aimed to validate the marker set in an additional cohort and to evaluate its clinical utility for CLL patient stratification. Methods: We evaluated this epigenetic marker set in 79 German patients using bisulfite treatment followed by pyrosequencing and classification using a support vector machine-learning tool. Results: The n-CLL, i-CLL, and m-CLL classification was detected in 28 (35%), 10 (13%), and 41 (51%) patients, respectively. Epigenetic grouping was associated with IGHV mutational status ( P = 2 × 10−12), isolated del13q ( P = 9 × 10−6), del17p ( P = .015), complex karyotype ( P = .005), VH-usage, and clinical outcome as time to first treatment ( P = 1.4 × 10−12) and overall survival ( P = .003). Multivariate Cox regression analysis identified n-CLL as a factor for earlier treatment hazard ratio (HR), 6.3 (95% confidence interval [CI] 2.4-16.4; P = .0002) compared to IGHV mutational status (HR 4.6, 95% CI 1.9-11.3, P = .0008). In addition, when comparing the prognostic value of the epigenetic classification system with the IGHV classification, epigenetic grouping performed better compared to IGHV mutational status using Kaplan-Meier estimation and allowed the identification of a third, intermediate (i-CLL) group. Thus, our study confirmed the prognostic value of the epigenetic marker set for patient stratification in routine clinical diagnostics.

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“…To date, no major disease causing or predisposing genetic loci have been identified for familial CLL [107] common to most families. Individual families with multiple cases of CLL may have unique genetic alterations not found in other such families.…”

Section: Chronic Lymphocytic Leukemiamentioning

confidence: 98%

Familial Leukemias

Wiernik

2015

Curr. Treat. Options in Oncol.

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Familial leukemia has been described for more than 50 years but only recently have modern genetic techniques allowed for the investigation of the genome. Genome-wide association studies have identified a number of genetic sites that appear to relate to susceptibility to leukemia in certain families and occasionally to susceptibility to a specific leukemia in general. Many questions remain, including susceptibility to what? An oncogenic virus? An environmental chemical? Mutation of another gene induced by a heritable mutation-promoting gene?.Clinically important facts have been learned. Chronic lymphocytic leukemia (CLL) is by far the most common familial leukemia. Patients with CLL have approximately a 10% chance of a first-degree relative developing CLL, and even a greater chance of one developing monoclonal B-cell lymphocytosis which may be an asymptomatic forme fruste of the neoplasm. Furthermore, there may be an increased incidence of breast cancer in familial CLL pedigrees which raises the question of a common etiology for neoplasms in general, or at least a previously unrecognized relationship among them.

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Inherited Susceptibility to CLL

Cited by 9 publications

References 84 publications

Incidental skin manifestation of trisomy 12 chronic lymphocytic leukemia

Incidental skin manifestation of trisomy 12 chronic lymphocytic leukemia

Evaluation of a Prognostic Epigenetic Classification System in Chronic Lymphocytic Leukemia Patients

Familial Leukemias

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