Combined Placental Maternal Floor Infarction and Cytomegalovirus Placentitis: A Case Report.

BackgroundMaternal floor infarction (MFI) and massive perivillous fibrin deposition (MPFD) are uncommon, related placental conditions secondary to trophoblastic cell damage. The etiology is unknown but MPFD/MFI is associated with adverse obstetric outcome and a significant risk of recurrence. Case report: We report a case of MPFD/MFI associated with cytomegalovirus (CMV) placentitis. A 27-year-old mother delivered a stillborn male fetus with a postmortem diagnosis of congenital CMV. The placenta showed a lymphohistiocytic villitis with isolated CMV inclusions, in combination with MFI. The villitis had features intermediate between CMV placentitis and villitis of unknown etiology (VUE). Conclusion: VUE is considered to be a maternal anti-fetal immune reaction resembling allograft rejection. We postulate that the viral infection in our case may have triggered this immune response, given that CMV antigens are known to cross react with some human antigens, in particular HLA. The subsequent trophoblastic cell damage could then lead to MFI/MFPD.

A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.

We characterized the chromosomal aberration in family with intellectual disability, including two affected children and their affected mother. Initial standard karyotypes of the three individuals showed an apparently balanced translocation of chromosomes 8 and 20. Using molecular cytogenetic techniques, we observed complex structural chromosomal aberration comprising of reciprocal translocation between chromosomes 8 and 20 with pericentric inversion (8p11.12q22.3) and insertion of chromosome 4 segments into both der(8) and der(20). In particular, the insertion of chromosome 4 was complex. Two segments (4q13.2-q13.3 and 4q21.21-q22.1) were inserted into the der(8)t(8;20) breakpoint and one segment (4q13.3-q21.21) into the der(20)t(8;20) breakpoint. Both children inherited two normal chromosomes 4 from their parents and the der(8) and der(20) from the mother, resulting in partial trisomy of 4q13.2-q22.1. Interestingly, the mother, in addition to the same complex insertions and inversion, was founded to have a deletion of 4q13.2-q22.1 in one of her chromosomes 4, yielding no genetic imbalance but with potential disruption of intellectual dysfunction-related gene(s) at the breakpoints as the cause of her intellectual impairment. This family is the third case report of an insertional translocation mechanism causing partial trisomy 4q syndrome. Our study demonstrates that an insertion of an extra chromosomal segment, not primarily involving in translocation breakpoints, which results in partial trisomy, can be an unapparent cause of the abnormal phenotypes.

High frequency of BCL2 translocation in Thai patients with follicular lymphomas.

Follicular lymphoma is characterized by chromosomal translocation involving BCL2 and immunoglobulin heavy chain genes (IgH). That the incidence of follicular lymphoma and the previously reported frequency of BCL2 translocation are lower in Asians than in Caucasians implies a different molecular pathology. The study of BCL2 rearrangement will yield deeper insights into the pathogenesis of follicular lymphomas and into clinical applications of molecular diagnosis for Asian follicular lymphoma patients. BCL2 /IgH translocation was analyzed in paraffin-embedded tissues from follicular lymphoma patients by using polymerase chain reaction (PCR) analysis of the major breakpoint region (MBR), the intermediate cluster region (ICR), and the minor cluster region. In addition, fluorescence in situ hybridization (FISH) analysis with split-signal BCL2 probes was performed. PCR analysis revealed BCL2 rearrangement in 12 (23.5%) of 51 cases (10 MBR and 2 ICR breakpoints). This frequency is lower than the frequencies reported from Western countries (40%-60%). DNA sequencing of the breakpoints revealed nucleotide insertions suggesting V(D)J recombination-mediated mechanisms. On the other hand, FISH analysis revealed 11 (84.6%) of 13 cases with positive signals for BCL2 translocation. Our results suggest that BCL2 translocation is essential for the pathogenesis of follicular lymphoma in Thai patients. In addition, the data demonstrate the low sensitivity of the PCR for diagnostic testing and suggest that split-signal FISH is the method of choice.

Applications of Fluorescence In Situ Hybridization Technology in Malignancies.

The molecular characterization of nonrandom recurrent cytogenetic abnormalities has identified numerous disease-related genes involved in hematologic and lymphoid malignancies. Cytogenetic analysis has become essential for disease diagnosis, classification, prognostic stratification, and treatment guidance. Fluorescence in situ hybridization (FISH) has greatly enhanced the field and enabled a more precise determination of the presence and frequency of genetic abnormalities. The advantages of FISH compared to standard cytogenetic analysis are that FISH can be used to identify genetic changes that are too small to be detected under a microscope, does not require cell culture, and can be applied directly on fresh or paraffin-embedded tissues for rapid evaluation of interphase nuclei. The application of FISH with a variety of chromosome-specific DNA probes helps to further define molecular subclasses and cytogenetic risk categories for patients with particular hematologic malignancies. FISH analysis is useful in identifying genetic abnormalities undetectable by conventional chromosomal analysis and monitoring residual disease during treatment and follow-up. Therefore, FISH has become an indispensable tool in the management of hematologic malignancies.

The location and contents of the lateral ligaments of the rectum: a study in human soft cadavers.

PURPOSE: This study was designed to identify the location of the lateral ligaments of the rectum and to reveal its contents. METHODS: From 18 human soft cadavers (9 males), 18 pelves were sagittally sectioned into 36 hemipelvic specimens affording good anatomic view of the lateral aspect of the rectum. All of them were dissected and mobilized by using sharp technique under direct vision by one surgeon to avoid confounding factor. The lateral ligaments of the rectum were identified and the distances from the center of its pelvic attachment to the promontory of sacrum and coccyx were measured. After measurement, they were transected and brought for histologic examination. RESULTS: In 36 hemipelvic specimens, 18 lateral ligaments of the rectum were found on the right side of the rectum and 18 were found on the left side. One cadaver had no lateral ligament on the right side and another had two lateral ligaments on the right side 3-cm apart. The location of the lateral ligaments was posterolateral to the rectum. The distance from the lateral ligament to sacral promontory on right side was 8.14 +/- 1.82 cm (mean +/- standard deviation) and 8.14 +/- 1.22 cm on left side. The distances from the lateral ligament to coccyx on the right and left sides were 5.12 +/- 1.4 cm and 4.88 +/- 1.29 cm, respectively. The content of the lateral ligaments of the rectum consisted of loose connective tissue with cluster of small nerves. No artery was detected in all specimens. The small arterioles and venules were discovered in only four specimens. CONCLUSIONS: The lateral ligaments of the rectum were located at posterolateral side of the rectum. They were closer to the coccyx than to the sacral promontory. Its component was loose connective tissue containing multiple small nerves. There was no artery found in any lateral ligaments by histologic study. Small arterioles and venules were detected 11 percent.