Molecular Genotyping of Hydatidiform Moles

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Presentation transcript:

Molecular Genotyping of Hydatidiform Moles Kathleen M. Murphy, Thomas G. McConnell, Michael J. Hafez, Russell Vang, Brigitte M. Ronnett The Journal of Molecular Diagnostics Volume 11, Issue 6, Pages 598-605 (November 2009) DOI: 10.2353/jmoldx.2009.090039 Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Examples of H&E, p57 immunohistochemistry, and molecular genotyping for typical cases of NM, PHM, and CHM. A: NM. Immature villi are small and have a polarized trophoblast. P57 is expressed in the nuclei of villous stromal cells and the cytotrophoblast. Molecular genotyping demonstrates bi-parental diploidy. B: PHM. Variably sized villi have highly irregularly shapes (“scalloping”) and trophoblastic inclusions but minimal trophoblastic hyperplasia. P57 is expressed in the nuclei of villous stromal cells and the cytotrophoblast. Molecular genotyping demonstrates diandric triploidy. C: CHM. Enlarged hydropic villus exhibits circumferential trophoblastic hyperplasia. Villous stromal cells and cytotrophoblast lack nuclear expression of p57 (intermediate trophoblastic cells are positive and serve as an internal positive control). Molecular genotyping demonstrates androgenetic diploidy. D = decidua, V = villous. Paternal (P) and likely maternal (M) alleles are identified in the villous tissue. The allele ratio (R) in the villous tissue is shown when two alleles are present. The Journal of Molecular Diagnostics 2009 11, 598-605DOI: (10.2353/jmoldx.2009.090039) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Capillary electrophoresis data from one STR locus demonstrating the effect of poor amplification (A) on allele ratios (R) compared with robust amplification (B). The Journal of Molecular Diagnostics 2009 11, 598-605DOI: (10.2353/jmoldx.2009.090039) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Capillary electrophoresis data (Case 1 and 2) and hypothetical data demonstrating problems due to decidual tissue (D) admixed into the villous specimen. In all cases the decidua is homozygous. On first analysis of Case 1, the ratio of the alleles in the villous tissue (V1) appeared to be consistent with triploidy (2.0). After more careful microdissection (V2), the ratio of the alleles in the villous tissue was 1.2, which is consistent with diploidy. On first analysis of Case 2, the ratio of the alleles in the villous tissue (V1) appeared to be consistent with diploidy (0.73). After more careful microdissection (V2), the ratio of the alleles in the villous tissue was 0.55, which is consistent with triploidy. The hypothetical data demonstrate that androgenetically diploid villous tissue with decidual contamination (V1) can have allele ratios that appear to be consistent with triploidy (0.33). The Journal of Molecular Diagnostics 2009 11, 598-605DOI: (10.2353/jmoldx.2009.090039) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 STR interpretation algorithm. NI = not informative; * = diandric, not digynic, triploidy is consistent with PHM. If the source of the triploidy cannot be determined from any of the loci, the data should be interpreted carefully in the context of the morphology. The Journal of Molecular Diagnostics 2009 11, 598-605DOI: (10.2353/jmoldx.2009.090039) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions