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Interphase cytogenetics in paraffin sections of routinely processed hydatidiform moles and hydropic abortions
Author(s) -
Van De Kaa Christina A.,
Nelson Karin A. M.,
Ramaekers Frans C. S.,
Vooijs Peter G.,
Hopman Anton H. N.
Publication year - 1991
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.1711650403
Subject(s) - ploidy , chromosome , cytogenetics , biology , karyotype , interphase , molecular cytogenetics , context (archaeology) , products of conception , y chromosome , pathology , genetics , medicine , pregnancy , abortion , gene , paleontology
The differential diagnosis of complete (CM) and partial (PM) hydatidiform moles and hydropic abortions (HA) can be difficult when based on histology alone. Therefore, a more objective approach of chromosome ploidy analysis as detected by in situ hybridization (ISH) was performed on 6 μm paraffin sections of seven cases, originally classified as three CM, two PM, and two HA with a histologic pattern suggestive of triploidy. Probes for repetitive DNA targets in the (peri)centromeric region of chromosomes 1 and X and in the q arm of chromosome Y were used to determine chromosome ploidy and sex chromosome composition. The findings in the three CM were consistent with diploidy: two copies of chromosomes 1 and X and none of chromosome Y. In the two HA with a histologic pattern suggestive of triploidy, three copies of chromosomes 1 and X and none of chromosome Y confirmed triploidy. Two cases originally classified as PM both appeared to have two copies of chromosome 1 with an XX pattern in one case and an XY pattern in the other case, which is consistent with diploidy instead of triploidy. After reviewing, both cases most likely represented CM. We conclude that interphase cytogenetics by ISH on paraffin sections of hydatidiform moles and hydropic abortions enables chromosome ploidy analysis with preservation of histological context. The important advantages of this procedure are (1) precise discrimination between maternal and trophoblast cells, (2) no risk of selecting certain cell types as a result of the isolation procedure, (3) detection and localization of cell subpopulations with heterogeneous DNA content, (4) determination of the contribution of a single chromosome (e.g., sex chromosome), and (5) access to archival material.