PubMed · 10846523
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J Costa. 1995. [Embracing change].. https://pubmed.ncbi.nlm.nih.gov/10846523/
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The NF2 tumor suppressor gene on chromosome 22 is a member of the protein 4.1 family of cytoskeletal elements. A number of single- and multiple-tumor phenotypes have been linked to alterations of NF2 since its characterization in 1993. We present a meta-analysis of 967 constitutional and somatic NF2 alterations from 93 published reports, along with 59 additional unpublished events identified in our laboratory and 115 alterations identified in clinical samples submitted to the Massachusetts General Hospital (MGH) Neurogenetics DNA Diagnostic Laboratory. In total, these sources defined 1,070 small genetic changes detected primarily by exon scanning, 42 intragenic changes of one whole exon or larger, and 29 whole gene deletions and gross chromosomal rearrangements. Constitutional single-exon events (N=422) were significantly more likely to be nonsense or splice site changes than somatic events (N=533), which favored frameshift changes (chi(2) test; P<0.001). Somatic events also differed markedly between tumors of different pathology, most significantly in the tendency of somatic events in meningiomas to lie within the 5' FERM domain of the transcript (Fisher's exact test; P<0.01 in comparison to schwannomas) with a complete absence of mutations in exons 14 and 15. There was no statistically significant difference in mutation type or exon distribution between published constitutional events and those found by the clinical laboratory. Less than 10% of all published and unpublished small alterations are nontruncating (N=63) and these changes are clustered in exons 2 and 3, suggesting that this region may be especially crucial to tumor suppressor activity in the protein.
Cytogenetic dosimetry results are customarily accompanied by 95% confidence limits and the derivation of these limits is discussed. Simply presenting values of the best estimate of dose and 95% limits assumes that recipients of dosimetry reports, possibly the patients themselves, have a sufficient grasp of statistics to comprehend the concept of uncertainty. Two further methods have been developed to aid improved understanding for the lay person. The first method, particularly useful for suspected low doses, presents a simple odds ratio indicating that the results favour either zero dose or that suspected; for example, from an unexpected dose recorded on a badge. The second method, described fully here for the first time, uses a graphical illustration of a normalised distribution of dose so that one may visualise the area beneath a curve that represents the probability that the dose lies within various bounds.
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