Leukocyte telomere length in women with multiple sclerosis: Comparison with healthy women during pregnancy and puerperium.

OBJECTIVES: Several studies indicated leukocyte telomere length (LTL) as a biomarker of multiple sclerosis (MS) evolution. This study aimed to investigate LTL in women with multiple sclerosis (MS) compared to that in healthy women (HW) across different reproductive phases, and to evaluate its relationship with MS activity. METHODS: Blood samples were collected from women with MS and HW during the fertile phase, pregnancy, and puerperium. LTL was determined using quantitative fluorescence in situ hybridization (Q-FISH). RESULTS: Blood samples from 68 women with MS (22 during fertile life, 23 during pregnancy, and 23 post-partum) and 52 HW (23 during fertile life, 20 during pregnancy, and 9 post-partum) were analyzed. During pregnancy, LTL in MS women and HW was 84.7 ± 10.5 and 77.6 ± 11.5, respectively (p < 0.005). Regression analysis showed that shorter LTL was associated with pregnancy in HW (p = 0.021); this relationship was not observed in MS women, for whom shorter LTL was related to a higher EDSS (p = 0.036). A longitudinal analysis was performed in eight MS women, showing LTL shortening from pregnancy to puerperium (p = 0.003), which was related to MS reactivation (p = 0.042). CONCLUSION: Our results highlight the possible associations between LTL, reproductive biological phases, and MS activity after delivery.

Would a morphomolecular approach help in defining pseudosarcomatous myofibroblastic proliferations? A study of a heart polypoid lesion.

Many cardiac neoplasms lack pathognomonic clinical features, and this leads to controversial interpretations. As genomic changes may correlate with these malignancies and possibly aid in diagnosis, fluorescence in situ hybridisation (FISH) was used to study a polypoid lesion found incidentally at autopsy on the septal wall of the left ventricle of a 75-year-old man who had died from a heart attack. Histology and immunohistochemistry disclosed atypical stromal cells with irregular voluminous nuclei positive for vimentin and smooth muscle actin; these cells were reminiscent of those previously reported in a subset of nasal polyps showing aneuploidy. The scarce lymphoplasmocytic infiltrate hindering the diagnosis of inflammatory myofibroblastic tumours (IMT), and the presence of atypical cells, prompted the use of FISH: lack of ALK gene rearrangement and aneuploidy were observed in the irregular nuclei, supporting the diagnosis of a pseudosarcomatous myofibroblastic proliferation (PMP). These results stress that IMT and PMP may represent variants within a spectrum of myofibroblastic proliferations/tumours.

Comprehensive conventional and molecular cytogenetic characterization of B-CPAP, a human papillary thyroid carcinoma-derived cell line.

Cell lines derived from different thyroid tumor histotypes are useful for the in vitro study of both the phenotypic and genetic features of these cancers. Although karyotypic changes are known to be associated with thyroid lesions, the chromosome patterns of only a few cell lines have been published. Herein, we report an extensive conventional and molecular cytogenetic investigation of the human papillary thyroid carcinoma derived cell line B-CPAP. Morphological studies and expression of tumor markers in this cell line have been reported previously, but no detailed characterization on the origin of the chromosome markers is available. B-CPAP cells have a rather stable hypertriploid karyotype, with chromosome polysomies and structural chromosome abnormalities featuring whole chromosome arm imbalances. Chromosome banding revealed a main clone with nine chromosome markers, and fluorescence in situ hybridization (FISH) with whole chromosome paint (wcp), partial chromosome paint (pcp), and centromeric probes clarified their origin. The use of centromeric probes provided accurate refinement of the rearrangements classified as whole-arm translocations by banding and FISH with wcp probes. Both chromosomal and array-based comparative genomic hybridization experiments confirmed the cytogenetic characterization of this cell line. Moreover, the use of fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms (FICTION) technique, which simultaneously shows nuclear ploidy and cytoplasmic immunofluorescence, detailed the oncocytic feature of the cells. Intriguingly, despite their origin, they lack most of the features expressed in papillary thyroid tumor cells and have a chromosomal pattern reminiscent of that of a subgroup of oncocytic malignant thyroid tumors.