Atypical polypoid adenomyoma (APA) is an uncommon uterine lesion that commonly recurs after local excision and is occasionally associated with or precedes the development of atypical hyperplasia or endometrioid adenocarcinoma. Despite the fact that about 230 cases have been reported in the literature, only 2 studies of 6 and of 7 cases have investigated the molecular aspects; as such, molecular alterations that occur in APA remain largely unknown. We undertook a comprehensive immunohistochemical and molecular analysis of 21 cases of APA in 17 patients (including 4 recurrent/persistent lesions). The analyzed genes were PTEN and TP53 (by fluorescence in situ hybridization) and KRAS, BRAF, EGFR, and NRAS (all by polymerase chain reaction). Immunohistochemical staining was performed for PTEN, p53, mTOR, β-catenin, HNF-1β, and GLUT1 and for the mismatch-repair proteins MLH-1, MSH-2, MSH-6, and PMS-2. In most cases, there was nuclear expression of β-catenin in squamous morules and expression of HNF-1β, mTOR, and GLUT1 in the glandular component. All cases exhibited "wild-type" expression of p53. A common finding was loss of PTEN expression (6/19 cases). In 1 of these cases, loss of PTEN expression was accompanied by PTEN deletion. Mutation of the KRAS gene was found in 5/19 cases. Intact mismatch-repair protein expression was present in all cases, and TP53 abnormalities or mutations of EGFR, NRAS, or BRAF genes were not found. Given the association with atypical hyperplasia and endometrioid adenocarcinoma and the shared immunohistochemical and molecular features, we feel that, conceptually, APA is best regarded as analogous to a localized form of atypical hyperplasia.
- MeSH
- adenomyom chemie klasifikace genetika patologie MeSH
- diagnostické techniky molekulární * MeSH
- dospělí MeSH
- fenotyp MeSH
- genetická predispozice k nemoci MeSH
- hyperplazie MeSH
- imunohistochemie * MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- nádorové biomarkery analýza genetika MeSH
- nádory dělohy chemie klasifikace genetika patologie MeSH
- prediktivní hodnota testů MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
We describe 12 cases of leiomyoma with intracytoplasmic inclusion bodies, which were detected in a group of 447 leiomyomas examined at our institution between December 2005 and March 2006. Ten of these tumors were typical leiomyomas, and two cases represented atypical (bizarre) leiomyoma. In some cases, the presence of intracytoplasmic inclusion bodies resulted in a rhabdoid or skeletal muscle-like appearance of the tumor cells. Ultrastructurally, there were two types of inclusions. One of them consisted of an abnormal aggregation of intermediate and actin filaments. Another type of inclusions was composed of dense granular material without an apparent fibrillar structure. The ultrastructure of the inclusions correlates with immunohistochemical and histochemical stainings. The inclusions with apparent fibrillar arrangements were PAS negative, stained red by trichrome, and were, at least at the periphery, actin-, desmin-, and h-caldesmon-positive. The dense granular inclusions were at least focally PAS-positive, stained red by trichrome, and were negative immunohistochemically. The intracytoplasmic inclusions were found in atypical (bizarre) leiomyomas of the uterus and occasionally in epithelioid leiomyomas and leiomyosarcomas. However, to the best of our knowledge, these inclusions have not been found in typical uterine leiomyomas to date.
- MeSH
- aktiny analýza MeSH
- azosloučeniny MeSH
- biologické markery analýza MeSH
- buněčná inkluze chemie ultrastruktura MeSH
- desmin analýza MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- eosin MeSH
- financování organizované MeSH
- imunohistochemie metody MeSH
- keratiny analýza MeSH
- leiomyom diagnóza chemie ultrastruktura MeSH
- lidé středního věku MeSH
- lidé MeSH
- methylová zeleň MeSH
- MyoD Protein analýza MeSH
- myogenin analýza MeSH
- nádory dělohy diagnóza chemie ultrastruktura MeSH
- proteiny vázající kalmodulin analýza MeSH
- rhabdoidní nádor patologie MeSH
- Schiffova reakce MeSH
- senioři MeSH
- vimentin analýza MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- MeSH
- adenokarcinom chemie chirurgie patologie MeSH
- cervix uteri chirurgie patologie MeSH
- diferenciální diagnóza MeSH
- hyperplazie endometria patologie MeSH
- lidé MeSH
- nádory dělohy chemie chirurgie patologie MeSH
- senioři MeSH
- vimentin chemie MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
