Pathogenic germline mutations c.1100delC and p.I157T in the CHEK2 gene have been associated with increased risk of breast, colon, kidney, prostate, and thyroid cancers; however, no associations have yet been identified between these two most common European founder mutations of the CHEK2 gene and ovarian cancers of any type. Our review of 78 female heterozygous carriers of these mutations (age > 18 years) found strikingly higher proportion of adult-type granulosa cell tumors of the ovary (AGCTs) among ovarian cancers that developed in these women (~36%) compared to women from the general population (1.3%). Based on this finding, we performed a cross-sectional study that included 93 cases previously diagnosed with granulosa cell tumors, refined and validated their AGCT diagnosis through an IHC study, determined their status for the two CHEK2 mutations, and compared the prevalence of these mutations in the AGCT cases and reference populations. The prevalence ratios for the p.I157T mutation in the AGCT group relative to the global (PR = 26.52; CI95: 12.55-56.03) and European non-Finnish populations (PR = 24.55; CI95: 11.60-51.97) support an association between the CHEK2p.I157T mutation and AGCTs. These rare gynecologic tumors have not been previously associated with known risk factors and genetic predispositions. Furthermore, our results support the importance of the determination of the FOXL2p.C134W somatic mutation for accurate diagnosis of AGCTs and suggest a combination of IHC markers that can serve as a surrogate diagnostic marker to infer the mutational status of this FOXL2 allele.
- Publikační typ
- časopisecké články MeSH
- MeSH
- biopsie MeSH
- dospělí MeSH
- imunohistochemie MeSH
- lidé MeSH
- meningeální nádory genetika chirurgie patologie MeSH
- mutace genetika MeSH
- neuroepitelové nádory * genetika chirurgie patologie MeSH
- oligodendrogliom genetika chirurgie patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Hlavnými indikáciami na peroperačné vyšetrenie gastrointestinálneho traktu, pečene a pankreatobiliárneho systému sú zhodnotenie resekčných okrajov a histologická diagnóza lézií, u ktorých nie je z rôznych príčin známa predoperačná diagnóza. Špeciálnym vyšetrením je zhodnotenie prítomnosti steatózy alebo zápalových zmien v pečeni darcu, alebo prítomnosti gangliových buniek v stene hrubého čreva pred vykonaním anastomózy u pacientov s Hirschprungovou chorobou. Najväčšími diagnostickými pascami sú rozpoznanie duktálneho karcinómu pankreasu od chronickej pankreatitídy, odlíšenie karcinómu žlčníka a extrahepatálnych žlčovodov od reaktívnych zmien spôsobených zápalom a rozoznanie prítomnosti difúzneho adenokarcinómu na resekčnom okraji pažeráka a žalúdka.
The main indications for intraoperative consultation of gastrointestinal tract, liver, and pancreatobiliary system are to evaluate the resection margin and to make a tissue diagnosis of lesions for which preoperative histology is not aviable for various reasons. Special situations include the evaluation of liver donor biopsies for the presence of steatosis and inflamation, or determination that ganglion cells are present in the bowel wall at the level where the anastomosis will be placed in case of Hirschprung's disease. The most worrisome pitfalls include differentiating pancreatic ductal carcinoma from chronic pancreatitis, distinguishing biliary tree and gallbladder carcinoma from reactive changes caused by inflammation, and recognizing the presence of diffuse adenocarcinoma at the resection margin of the esophagus and stomach.
- MeSH
- barvení a značení MeSH
- biopsie * metody MeSH
- gastrointestinální trakt anatomie a histologie patologie MeSH
- játra anatomie a histologie patologie MeSH
- lidé MeSH
- metastázy nádorů diagnóza MeSH
- nádory diagnóza MeSH
- pankreas anatomie a histologie patologie MeSH
- peroperační péče * MeSH
- resekční okraje MeSH
- žlučník anatomie a histologie patologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
