Recent advances in the study of somatic mosaicism and diseases other than cancer

Erickson, Robert P.

doi:10.1016/j.gde.2014.06.001

Cited by 35 publications

(24 citation statements)

References 54 publications

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“…However, the emergence of next-generation sequencing (NGS) has revolutionized detection methods (17). However, this is challenging due to the ethical considerations of performing invasive tests on healthy individuals.…”

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confidence: 99%

Detecting somatic mosaicism: considerations and clinical implications

et al. 2014

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Human disease is rarely a matter of all or nothing; variable expressivity is generally observed. Part of this variability is explained by somatic mosaicism, which can arise by a myriad of genetic alterations. These can take place at any stage of development, possibly leading to unusual features visible at birth, but can also occur later in life, conceivably leading to cancer. Previously, detection of somatic mosaicism was extremely challenging, as many gold standard tests lacked the necessary resolution. However, with the advances in high-throughput sequencing, mosaicism is being detected more frequently and at lower levels. This raises the issue of normal variation within each individual vs mosaicism leading to disease, and how to distinguish between the two. In this article, we will define somatic mosaicism with a brief overview of its main mechanisms in concrete clinical examples, discuss the impact of next-generation sequencing technologies in its detection, and expand on the clinical implications associated with a discovery of somatic mosaicism in the clinic.

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confidence: 99%

Detecting somatic mosaicism: considerations and clinical implications

et al. 2014

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“…Lipomatous overgrowths are frequent and could simulate a royal tumour or carcinomatous degeneration in these polymorphic syndromes [8]. Moreover, some disturbing characters and localisation call for surgical intervention like in our two cases that had the growth at the gluteal region making difficulty in sitting and walking.…”

Section: Discussionmentioning

confidence: 74%

Proteus Syndrome: About Two Paediatrics Cases

Kissou¹,

Tankoano²,

Somé³

et al. 2018

OJPed

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Proteus syndrome (PS) is a rare pathology characterized by mosaic and progressive hypertrophies, that can affect any organ or tissue of the body. A genetic mutation in the embryo is at the origin of the disease. Bones, fat, skin and connective tissue are the tissues most typically involved. The extent and severity of the abnormalities vary, giving different clinical presentations. The authors report two cases in two boys aged three and eight years respectively. In both, segmental and organ growth abnormalities, skin abnormalities and lipomas were present. The youngest patient was admitted for the management of severe malnutrition. He presented a major excrescence in the gluteal region, which required surgical management mainly because of its functional impact. In the second patient who was hospitalized following a viral meningoencephalitis, important vascular abnormalities were demonstrated, particularly at the cerebral and abdominal level. The clinical presentation was more severe in the latter, with the installation of an extended coma and a comitial state. PS is a pathology which could be incapacitating. It exposes to a high risk of benign tumours and deep venous thrombosis. The variability of abnormalities and the risks incurred required multidisciplinary management.

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“…This approach relies on the argument that the genetic heterogeneity in the tumor is governed by different evolutionary dynamics as the rest of the body (see for example Jacobs et al 2012;Laurie et al 2012; Vijg 2014 and references therein). Mosaicism can also have much less dramatic influences in humans, and increasing reports on mosaicism in humans (Youssoufian and Pyeritz 2002;Erickson 2014;Spinner and Conlin 2014) and even the germline (Samuels and Friedman 2015;Jónsson et al 2017) seem to underline the varying evolutionary outcomes for IGH in a multicellular individual: positive, negative or neutral.…”

Section: Mosaic Individualsmentioning

confidence: 99%

Considering Intra-individual Genetic Heterogeneity to Understand Biodiversity

Boon

2019

History, Philosophy and Theory of the Life Sciences

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In this chapter, I am concerned with the concept of Intra-individual Genetic Hetereogeneity (IGH) and its potential influence on biodiversity estimates. Definitions of biological individuality are often indirectly dependent on genetic sampling-and vice versa. Genetic sampling typically focuses on a particular locus or set of loci, found in the the mitochondrial, chloroplast or nuclear genome. If ecological function or evolutionary individuality can be defined on the level of multiple divergent genomes, as I shall argue is the case in IGH, our current genetic sampling strategies and analytic approaches may miss out on relevant biodiversity. Now that more and more examples of IGH are available, it is becoming possible to investigate the positive and negative effects of IGH on the functioning and evolution of multicellular individuals more systematically. I consider some examples and argue that studying diversity through the lens of IGH facilitates thinking not in terms of units, but in terms of interactions between biological entities. This, in turn, enables a fresh take on the ecological and evolutionary significance of biological diversity.

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Recent advances in the study of somatic mosaicism and diseases other than cancer

Cited by 35 publications

References 54 publications

Detecting somatic mosaicism: considerations and clinical implications

Detecting somatic mosaicism: considerations and clinical implications

Proteus Syndrome: About Two Paediatrics Cases

Considering Intra-individual Genetic Heterogeneity to Understand Biodiversity

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