Generalities.

(a)<p>CK, p = primary choriocarcinoma; CK, vm = vaginal metastasis from choriocarcinoma; CK, cl = choriocarcinoma cell line.</p>(b)<p>A = andromonospermic, AD = , B = , U =  unknown.</p

FISH on choriocarcinomas.

<p>A = M176 Xq10 r & Yq10 g : left nucleus with 3Xq10, right ones with 5 spots. B = M232 Xq10 r & Yq10 g : only one Xq10 spot for each cell. C = M176 14q32 g & 16q23 r : 2 to 3 green spots (14q) and 1 to 2 red ones(16q). D = JAR 16q22 CBFB r+g : 3 to 4 spots for 16q. E = JEG 16q22 CBFB r+g : 4 spots for 16q. F = BEWO 16q22 CBFB r+g: 4 spots for 16q and a cell with eigth spots; these two types of cells are not distinct by aCGH. G = JEG BCL2 r+g : only one spot of 18q. H = BeWo BCL2 r+g : three spots of BCL2 per cell, that are considered as a small loss compared to JEG. I = BeWo Xq10 r & Yq10 g : two Xq10 and one Yq10 spots. J & K = JAR 12p12 ETV6 r+g : ETV6 is amplified ×8 in the right nucleus of picture J and, on picture K, this amplification is located on a marker chromosome while 3 copies are sitting on probably normal 12p. L = JAR 12q10 r & 12q15 MDM2 g. An amplification of MDM2 is observed (green) from 6 copy on a der(12) with one (or 2) chromosome 12 centromere(s); 3 copies of MDM2 seem present on apparently normal chromosomes 12.</p

aCGH choriocarcinomas M26, M176, M232.

<p>Respectively, loss of 18q, gain of 14q and loss of X. The vertical lines along the chromosomes indicate losses on the left, gains on the right side of chromosomes.</p

Representative images of IHC.

<p><b>MMP-2</b>: (A) Normal placenta 12 weeks = no labeling. (B) CK M176 = strong cytoplasm and membrane labeling of the of CTB cells and MEC. <b>SERPINB2</b>: C) Placenta 9 weeks = immunostaining of cytoplasm STB cells and microvillosities. D) CK M176 = no labeling.</p

aCGH choriocarcinoma cell lines BeWo, JEG, JAR.

<p>Recurrent gain of 5q, 12p, 14q, 20q and loss of 8, 18q, Xp. The CNAs following optimal normalization for the X (see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0029426#s3" target="_blank">results</a>) are indicated in blue along the X chromosomes in the three cell lines.</p

FISH studies in cell lines.

<p>*The number of X or Y is based from the centromere number.</p><p>**Numbers of cells out 100 cells counted.</p

Genotype profile obtained with an automated sequencing apparatus of choriocarcinoma M176 with msat 9A from the PMP22 locus on 17p.

<p><a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0029426#pone.0029426-Latour1" target="_blank">[<b>18</b>]</a><b>.</b> A Patient/mother genotype with a 154 bp and a 180 bp 9 A alleles ; B father genotype with a 159 bp and a 169 bp 9 A alleles; C Tumor M176 : only a single 159 bp paternal allele is detected. Its absence in the mother allowed us to conclude that it is an andromonospermic tumor; sz = size in base pairs; ar = area; ht = height.</p

Minimal Critical Region in the two groups of patients.

<p>Column 1, the location of the MCR that follows the rules of <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0016623#pone-0016623-t004" target="_blank">tables 4</a> and <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0016623#pone-0016623-t005" target="_blank">5</a>; the figures in brackets and in bold are the ratios of the amplified regions. Column 2, patients; the figures in bold indicate the smaller CNA.</p

Gains and losses CNA in p-AML and revised karyotype.

<p>Column 2 and 3: The CNA were either lost or gained as indicated by a “−” or a “+”; the locations on the chromosomes are described according to the ISCN 2009 with slight modifications: sequence numbers are included between <> and expressed in Mb, with a resolution of 10kb; linear ratios are written between brackets after an “×”; CNAs with a linear ratio >2 (low level of amplification) or losses <0.25 are labeled in <b>bold</b> and <b><i>italics</i></b>; “*” indicates CNA that are probably part of a rearrangement of the immunoglobulin genes. They are not included in the synthetic karyotypes as they could be considered as an acquired CNV characteristic of monoclonal proliferation.</p><p>Column 4: In <b>bold</b> are new data or those modified by aCGH in the synthetic karyotypes; CNAs that were contiguous but whose ratios were not too different were fused to express overall chromosome abnormality for readability.</p

p-AML (case p24) with a complex karyotype.

<p>See the amplification of 15q23q24 and of 21q11.2q22.1 that are enlarged at the gene level. Multiple abnormalities (cf <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0016623#pone-0016623-t005" target="_blank">table 5</a>) are asterisked.</p