Tall cell carcinoma of the breast with reversed polarity - a report of three cases with a review of the literature.

Tall cell carcinoma with reverse polarity (TCCRP) is a rare special type of breast epithelial neoplasm presented by columnar cells with opposite nuclear polarity, solid and solid-papillary architecture, and frequent IDH2 gene alterations. Hereby, the authors present three cases of TCCRP in women aged 56, 66 and 67 years with maximum tumour sizes of 29 mm, 10 mm and 8 mm. Tumours showed histomorphological characteristics of TCCRP supported by immunohistochemical profile of tumour cells, in which positive expression of CK7, CK5/6, GCDFP15, mammaglobin, GATA3 and calretinin and negativity of CK14, p63, TTF1, thyroglobulin and neuroendocrine markers were demonstrated. Two tumours were triple negative, and in one tumour, only weak focal ER expression was noted along with PR and HER2 negativity. Pathogenic somatic variants in mutational hotspot region p.R172 in IDH2 gene were detected using NGS technology in all three tumours. Moreover, in two of these tumours, the most common pathogenic variants p.E545A and p.H1047R of PIK3CA were identified. TCCRP represents a rare breast neoplasm of low malignant potential, the incidence of which will probably increase due to the more clearly defined histomorphological, immunohistochemical and molecular-genetic characteristics, which were all responsible for including this entity into the 5th edition of WHO classification breast tumours.

Detection of mitochondrial haplogroups in a small avar-slavic population from the eigth-ninth century AD.

OBJECTIVES: In the sixth century AD, Avars came to Central Europe from middle Eurasian steppes and founded a strong Empire called the Avar Khagante (568-799/803 AD) in the Pannonian basin. During the existence of this empire, they undertook many military and pugnacious campaigns. In the seventh century, they conquered the northern territory inhabited by Slavs, who were further recruited in Avar military and were commissioned with obtaining food supplies. During almost 200 years of Avar domination, a significant influence by the Avar culture (especially on the burial rite) and assimilation with indigenous population (occurrence of "East Asian"cranial features) could be noticed in this mixed area, which is supported by achaeological and anthropologcal research. Therefore we expected higher incidence of east Eurasian haplogroups (introduced by Avars) than the frequencies detected in present-day central European populations. MATERIALS AND METHODS: Mitochondrial DNA from 62 human skeletal remains excavated from the Avar-Slavic burial site Cífer-Pác (Slovakia) dated to the eighth and ninth century was analyzed by the sequencing of hypervariable region I and selected parts of coding region. Obtained haplotypes were compared with other present-day and historical populations and genetic distances were calculated using standard statistical method. RESULTS AND DISCUSSION: In total, the detection of mitochondrial haplogroups was possible in 46 individuals. Our results prooved a higher frequency of east Eurasian haplogroups in our analyzed population (6.52%) than in present-day central European populations. However, it is almost three times lower than the frequency of east Eurasian haplogroups detected in other medieval Avar populations. The statistical analysis showed a greater similarity and the lowest genetic distances between the Avar-Slavic burial site Cifer-Pac and medieval European populations than the South Siberian, East and Central Asian populations. CONCLUSION: Our results indicate that the transfer of Avar genetic variation through their mtDNA was rather weak in the analyzed mixed population.

Serious chronic disease of the cervical spine and trauma in a young female from the middle ages (Czech Republic).

The skeletal remains of the young female (20-24 years) from Grave JP/106, discovered in the Southern Suburb of the Breclav - Pohansko Stronghold (Early Middle Ages, 9th century-beginning of the 10th century, present day Czech Republic) display several noteworthy pathologies. The first is deformation of the mandible, which was most probably caused by a fracture of the ramus in combination with a subcondylar fracture. The spine of this young woman also exhibits a probable traumatic injury of the cervical spine in combination with a slowly growing structure situated inside the spinal canal, which caused deformation centered upon C7. The cervical and thoracic spine together with internal surfaces of several ribs exhibit infectious changes of advanced stage, in all likelihood of tuberculous origin, but osteomyelitis cannot be excluded. Histological analysis of the new bone formation in the ribs confirmed infectious origin, as does Micro CT of C5 and C6. Analyses conducted by two different departments with different methods (PCR amplification of 123 bp long section from IS6110 and Next Generation shotgun sequencing) failed to identify DNA of Mycobacterium tuberculosis from the first rib.