The authors present a case of 1st trimester miscarriage where an early, complete hydatidiform mole was clinically suspected. Histopathological and immunohistochemical analyses excluded a complete mole, but the histomorphological profile was in concordance with a partial hydatidiform mole. Genetic analysis excluded a partial mole based on biparental genome composition, where further genetic analyses detected trisomy of chromosome 16. Trisomy of chromosome 16 is a frequent cause of 1st trimester abortions and may lead to highly abnormal placental histomorphology mimicking a partial mole. Genetic analyses are crucial for proper differential diagnosis and for the determination of adequate follow-up and prognosis for further pregnancies.
- Klíčová slova
- Aneuploidy, DNA analysis, placental histomorphology, trisomy 16,
- MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- lidé MeSH
- lidské chromozomy, pár 16 * genetika MeSH
- mola hydatidosa * genetika diagnóza patologie MeSH
- mozaicismus MeSH
- nádory dělohy * genetika diagnóza patologie MeSH
- první trimestr těhotenství MeSH
- samovolný potrat genetika diagnóza MeSH
- těhotenství MeSH
- trizomie * diagnóza genetika MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
The authors present a case of a partial hydatidiform mole where DNA analysis (STR - short tandem repeat genotyping) showed a triandric monogynic tetraploid genome composition with a XXXY gonosomal complement. This genetic finding clinicopathologically correlates with a partial hydatidiform mole, although it is rare in comparison with the typical, diandric monogynic triploid partial moles. The genetic analysis definitively confirmed the suspected diagnosis of a partial mole. To exclude the possibility that molar pregnancy represented retained products of conception after elective pregnancy termination, STR profiles from molar pregnancy and previous products of conception were compared. Short tandem repeats genotyping is a useful molecular genetic method in the differential diagnosis of partial hydatidiform moles, where clinical-pathological findings are frequently ambiguous.
- Klíčová slova
- DNA analysis, Tetraploidy, partial hydatidiform mole, retained product of conception, short tandem repeat genotyping,
- MeSH
- DNA MeSH
- fertilizace MeSH
- lidé MeSH
- mola hydatidosa * diagnóza genetika patologie MeSH
- nádory dělohy * diagnóza genetika patologie MeSH
- těhotenství MeSH
- tetraploidie MeSH
- Check Tag
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- DNA MeSH
OBJECTIVE: Gestational trophoblastic neoplasia epidemiology and treatment results in the Slovak Republic in the years 1993-2017. METHODS: Retrospective analysis results of gestational trophoblastic neoplasia treatment in the Centre for gestational trophoblastic disease in the Slovak Republic in Bratislava in the years 1993-2017 according to prognostic scoring and staging system FIGO/WHO (International Federation of Gynecology and Obstetrics/World Health Organization). RESULTS: The Centre for Gestational Trophoblastic Disease was created in the Slovak Republic in the year 1993, after the split of former Czechoslovakia. A total of 100 patients with gestational trophoblastic neoplasia were treated in this Centre in the years 1993–2017. According to prognostic scoring and staging system FIGO/ WHO, 74% patients were at a low risk and 26% of patients were at a high-risk of gestational trophoblastic neoplasia. There were 56, 2, 32 and 10% patients in stages I, II, III, and IV, respectively. The total curability and mortality rates were 96 and 4%, respectively. The curability rate 100% was achieved in stages I–III and in all placental site trophoblastic tumours, and the curability rate 60% was achieved in stage IV. In the years 1993 –2017, the incidences were 1 in 59,315 pregnancies and 1 in 42,299 deliveries for choriocarcinoma, 1 in 489,348 pregnancies and 1 in 348,965 deliveries for placental site trophoblastic tumours, 1 in 139,814 pregnancies and 1 in 99,704 deliveries for invasive mole, and 1 in 39,947 pregnancies and 1 in 28,487 deliveries for persistent gestational trophoblastic neoplasia. In the Czech Republic in the same period of time, there were treated 281 (301) patients with the curability rate 98.6% (98.7%). CONCLUSION: The results of the treatment of gestational trophoblastic neoplasia in the Slovak Republic are comparable with those achieved by leading centers specialized for the treatment of this disease in Europe and in the world. Early detection and centralisation of the treatment are crucial points for successful treatment, as the high curability rate of gestational trophoblastic neoplasia is achieved by effective therapy.
- Klíčová slova
- choriocarcinoma, curability, epithelioid trophoblastic tumour, gestational trophoblastic neoplasia, invasive mole, mortality, placental site trophoblastic tumour, reproductive outcomes,
- MeSH
- gestační trofoblastická nemoc * epidemiologie terapie MeSH
- lidé MeSH
- nádory dělohy * MeSH
- retrospektivní studie MeSH
- těhotenství MeSH
- Check Tag
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika epidemiologie MeSH
- Evropa MeSH
- Slovenská republika epidemiologie MeSH
OBJECTIVE: The aim of the study was the genetic characterization of a set of cases with an unclear morphological profile of the placental tissue suspected of a partial hydatidiform mole. PATIENTS AND METHODS: This work presents the results of a genetic analysis of a group of 10 patients with various clinical manifestations of reproductive loss, where a partial hydatidiform mole was suspected on the basis of a histopathological examination. The composition of the genome of the products of conception was determined by short tandem repeats (STR) genotyping using a commercial kit;Devyser Compact v3 (Devyser). RESULTS AND CONCLUSIONS: Out of 10 analyzed cases, five had diandric monogynic triploid genome, characteristic for a partial mole. Aneuploidies of chromosomes 13, 18, 21, X and Y were excluded in four cases and Pataus syndrome was dia-gnosed in one case. In the case of an unclear histopathological profile, consultative DNA analysis (ideally STR genotyping) can significantly help the pathologist in the differential dia-gnosis of a partial mole. The histopathological profile of a partial hydatidiform mole may be in some cases incomplete and unclear, especially in the early weeks of gestation, which can lead to false negativity of the examination. On the other hand, other pathologies, for example aneuploides or digynic triploidy, may produce a histopathological profile similar to a partial mole, which leads to false positivity. Accurate dia-gnosis of a partial hydatidiform mole using molecular genetic methods contributes to the determination of adequate dispensary care for patients.
- Klíčová slova
- Alleles, genotyping techniques, hydatidiform mole, microsatellite repeats,
- MeSH
- aneuploidie MeSH
- lidé MeSH
- mikrosatelitní repetice MeSH
- mola hydatidosa * diagnóza genetika MeSH
- nádory dělohy * diagnóza genetika MeSH
- placenta MeSH
- těhotenství MeSH
- Check Tag
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
INTRODUCTION: Many widely used international histological textbooks claim that the epithelium of the human uterine tube consists of two, three, and, eventually, four types of cells. Most discrepancies among these textbooks relate to debates regarding the presence or absence of basal cells, whether the peg/intercalary cells and secretory cells are the same or distinct cell populations, and if the epithelium contains a population of immunologically active cells (T- and B-lymphocytes, NK cells, macrophages and dendritic cells) or dispersed endocrine cells. METHODS: Uterine tubes were obtained from 22 women (average age: 46.73 y) undergoing gynecological surgery. The women were in fertile age, mostly in the middle of the menstrual cycle (ovulation phase). Tissue samples were processed for immunohistochemistry using primary antibodies against proliferation markers (Ki67 and PCNA), immune system cells (CD1a, CD3, CD4, CD8, CD20, CD45RO, CD56, CD68, granzyme B and S100) and disperse endocrine cells (chromogranin A and synaptophysin). RESULTS: Most of the mature tubal epithelial cells, ciliated cells, and secretory cells were mitotically active (PCNA+), a population of basal undifferentiated cells was not identified. The dividing cells had a narrow-shaped nucleus (Ki67 positive). These cells were morphologically identical to - by the terminology mentioned - intercalary cells, assuming they represented actually dividing cells (epitheliocytus tubarius mitoticus). The tubal "basal cells" displayed small, hyperchromatic nuclei and very pale cytoplasm (clear cytoplasmic halo). They were located in the epithelium adjacent to the basement membrane, were non-mitotically active and their immunophenotype corresponded to intraepithelial regulatory T-lymphocytes (CD3+, CD8+, CD45RO+, CD4-, CD20-, CD56- and granzyme B-). Intraepithelial B-lymphocytes were only rarely identified. Intraepithelial NK cells, dendritic cells, macrophages and dispersed endocrine cells were not identified. CONCLUSIONS: We recommend replacing the term "epitheliocytus tubarius basalis" in the Terminologia Histologica with the term "lymphocytus T intraepithelialis tubarius", which represents intraepithelial regulatory T-cells (CD8+, CD45RO+) of the uterine tube. Additionally, we propose that intercalary/peg cells are actively dividing cells, instead of effete or degenerating cells. Finally, the histological nomenclature should be corrected in a way that peg/intercalary cells are not considered synonymous terms for secretory cells.
- Klíčová slova
- Basal cells, Dividing cells, Epithelium, Intercalary/peg cells, Intraepithelial regulatory T-lymphocytes, Uterine tube,
- MeSH
- antigen Ki-67 metabolismus MeSH
- CD antigeny analýza MeSH
- dospělí MeSH
- epitelové buňky klasifikace imunologie MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mitóza MeSH
- proliferace buněk MeSH
- proliferační antigen buněčného jádra metabolismus MeSH
- vejcovody anatomie a histologie cytologie imunologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- antigen Ki-67 MeSH
- CD antigeny MeSH
- MKI67 protein, human MeSH Prohlížeč
- proliferační antigen buněčného jádra MeSH