The widespread use of advanced molecular techniques has led to the identification of several tumor types with PLAG1 gene fusions some of which also affect the skin and soft tissues. Herein, we present a 38-year-old female with a subcutaneous tumor affecting her forearm, which does not seem to fit into any currently recognized entity. It was a well-circumscribed tumor measuring 6 × 4,5 × 4 cm. It had a thick capsule composed of bland spindle cells forming palisades and Verocay body-like structures within a myxocollagenous background. Scattered calcifications were dispersed throughout the lesion. No cytological atypia, mitotic activity, or necrosis were present. Targeted NGS revealed a SOX10::PLAG1 fusion and fluorescent in situ hybridization confirmed the presence of PLAG1 gene rearrangement. The neoplastic cells showed a diffuse immunohistochemical expression of S100, SOX10, and PLAG1, as well as patchy desmin and CD34 positivity. The methylation profile of this tumor did not match any other entity covered by the DKFZ sarcoma classifier and apart from the gain of chromosome 12, the copy number profile was normal. The tumor was completely excised, and the patient has been free of disease for 4 years since the excision. While more cases are needed to confirm this tumor as a distinct entity, we propose a provisional name "SOX10::PLAG1-rearranged calcifying spindle cell tumor."
- MeSH
- DNA vazebné proteiny * genetika metabolismus MeSH
- dospělí MeSH
- fúzní onkogenní proteiny genetika metabolismus MeSH
- kalcinóza genetika patologie metabolismus MeSH
- lidé MeSH
- nádory měkkých tkání * genetika patologie metabolismus MeSH
- sarkom genetika patologie metabolismus MeSH
- transkripční faktory SOXE * genetika metabolismus MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH
Albright hereditary osteodystrophy is a rare syndrome, in which cutaneous and superficial soft tissue lesions traditionally include osteomas and calcifications. We report 4 patients from 2 families affected with Albright hereditary osteodystrophy and demonstrate that the spectrum of these cutaneous and soft tissue lesions is broader than is usually defined in the literature. In addition to osteomas in the dermis and subcutis, including so-called plaque-like osteoma, we identified the following lesions: calcifying aponeurotic fibroma-like lesion, calcinosis circumscripta-like lesion, and unusual nevi with osteoid and/or peculiar intranuclear pseudoinclusions. One osteoma and the calcifying aponeurotic fibroma-like lesion were analyzed by HUMARA and proved to be clonal. In a family, a novel mutation in the GNAS gene was also identified.
- MeSH
- dítě MeSH
- dospělí MeSH
- fibrom diagnóza genetika patologie MeSH
- fibrózní dysplazie polyostotická diagnóza genetika patologie MeSH
- kalcinóza diagnóza genetika patologie MeSH
- lidé MeSH
- mutace genetika MeSH
- nádory kostí diagnóza genetika patologie MeSH
- nádory kůže diagnóza genetika patologie MeSH
- névus diagnóza genetika patologie MeSH
- osteom diagnóza genetika patologie MeSH
- předškolní dítě MeSH
- proteiny vázající GTP - alfa-podjednotky Gs genetika MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or retinal degeneration and pyramidal signs. The rate of occurence of HSD is thus far unknown. Progress in DNA diagnostics stirred up a nomenclature and from HSD, or, perhaps better put, the Hallervorden-Spatz syndrome, crystallized the pantothenate kinase-associated neurodegeneration (PKAN) as a clearly defined entity on the level of DNA. In this paper, we present our first results and experience in the diagnosis of PKAN in the Czech Republic and discuss questions related to differential diagnosis.
- MeSH
- diferenciální diagnóza MeSH
- dítě MeSH
- dospělí MeSH
- dyskineze genetika patologie MeSH
- finanční podpora výzkumu jako téma MeSH
- fosfotransferasy s alkoholovou skupinou jako akceptorem genetika MeSH
- Hallervordenův-Spatzův syndrom genetika patologie MeSH
- kalcinóza genetika patologie MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- mladiství MeSH
- mutace MeSH
- předškolní dítě MeSH
- syndrom bazocelulárního névu patologie MeSH
- zdraví rodiny MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- Geografické názvy
- Česká republika MeSH
