Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm of uncertain histogenesis that has been linked to tumor-induced osteomalacia (TIO) since 1959. The neoplastic cells produce increased amount of FGF23 which results in TIO via uncontrolled renal loss of phosphate (phosphaturia), and consequently diminished bone mineralization. To date, ∼300 cases have been reported. Although there is increasing evidence that PMT can be diagnosed by reproducible histopathologic features, firm diagnosis has been often restricted to cases associated with TIO and, hence, diagnosis of "nonphosphaturic variants" remained challenging. Recently, FGFR1/FN1 gene fusions were detected in roughly half of cases. We herein reviewed the clinicopathologic features of 22 PMTs (15 cases not published before), stained them with an extended immunohistochemical marker panel and examined them by fluorescence in situ hybridization for FGFR1 gene fusions. Patients were 12 males and 9 females (one of unknown sex) aged 33 to 83 years (median: 52 y). Lesions affected the soft tissues (n=11), bones (n=6), sinonasal tract (n=4), and unspecified site (n=1). Most lesions originated in the extremities (9 in the lower and 4 in the upper extremities). Acral sites were involved in 10 patients (6 foot/heel, 3 fingers/hands, and 1 in unspecified digit). Phosphaturia and TIO were recorded in 10/11 and 9/14 patients with detailed clinical data, respectively. Limited follow-up (5 mo to 14 y; median: 16 mo) was available for 14 patients. Local recurrence was noted in one patient and metastasis in another patient. Histologically, 11 tumors were purely of conventional mixed connective tissue type, 3 were chondromyxoid fibroma-like, 2 were hemangio-/glomangiopericytoma-like with giant cells, and 1 case each angiomyolipoma-like and reparative giant cell granuloma-like. Four tumors contained admixture of patterns (predominantly cellular with variable conventional component). Immunohistochemistry showed consistent expression of CD56 (11/11; 100%), ERG (19/21; 90%), SATB2 (19/21; 90%), and somatostatin receptor 2A (15/19; 79%), while other markers tested negative: DOG1 (0/17), beta-catenin (0/14), S100 protein (0/14), and STAT6 (0/7). FGFR1 fluorescence in situ hybridization was positive in 8/17 (47%) evaluable cases. These results add to the phenotypic delineation of PMT reporting for the first time consistent expression of SATB2 and excluding any phenotypic overlap with solitary fibrous tumor or sinonasal glomangiopericytoma. The unifying immunophenotype of the neoplastic cells irrespective of the histologic pattern suggests a specific disease entity with diverse morphotypes/variants rather than different neoplasms unified by TIO.
- MeSH
- diagnostické techniky molekulární MeSH
- dospělí MeSH
- imunofenotypizace MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mezenchymom genetika patologie MeSH
- nádory z pojivové tkáně genetika patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Benigní nádory ledvin tvoří zhruba šestinu všech renálních nádorů. Dřívější základní dělení podle původu na epitelové a mezenchymové je dnes přepracováno do zatím poslední klasifikace dle WHO z roku 2004. Autor předkládá dvě kazuistiky, v nichž jsou prezentovány častý angiomyolipom epitelového původu a mnohem vzácnější multicystický nefrom, jenž vychází z epitelu i mezenchymu.
One sixth of all renal tumors are benign. The previous classification to epitelial and mesenchymal tumors is nowadays remade to the latest 2004 WHO Classification of the Renal Tumors of the Adults. The author presents two cases – frequent angiomyolipoma of epitelial origin and quite rare multicystic nephroma of epitelial and mesenchymal origin.
BACKGROUND: Oncogenous osteomalacia (OOM), which is also known as tumour-induced osteomalacia, is a rare condition associated with a neoplasm and a related systemic bone demineralization caused by renal phosphate wasting. OOM usually occurs in association with a variety of different mesenchymal tumours, and they were categorized into four distinct morphological patterns which they termed "phosphaturic mesenchymal tumour". Of its 4 histopathological subtypes, the mixed connective tissue variant is most commonly observed. Only 10% of cases appear in the head and neck regions and moreover, only 5 previously published tumors were localized in the sinonasal area. The authors describe a case of a man with a PMT originating from the frontoethmoidal region. CASE PRESENTATION: A 53-year-old man was referred to our ORL clinic due to a presence of a mass at the nasal root having been growing asymptomatically for 1 year. CT scans demonstrated a large (25 × 20 × 35 mm) bilateral frontoethmoidal mass with destruction of nasal bones. The tumor did not appear to invade to the anterior skull base. A selective angiography revealed a moderate hypervascularization of the tumour during early and late arterial phases. The tumour was removed from the external approach and the definitive histopathological diagnosis was a phospaturic mesenchymal tumor. Dual energy X-ray absorptiometry revealed a slight osteopenia of the first and second lumbar vertebrae and neck of the thigh bone. The serum and urinary levels of both calcium and anorganic phosphate were within normal limits. The patient is doing well three years after the operation, and the serum and urine levels of calcium and phosphate remain well within normal limits. CONCLUSION: PMT is rare in the sinonasal region, it can be rarely observed without the signs of osteomalacia.
- MeSH
- dospělí MeSH
- fosfáty krev moč MeSH
- lidé středního věku MeSH
- lidé MeSH
- mezenchymom diagnóza metabolismus patologie MeSH
- nádory kostí diagnóza metabolismus patologie MeSH
- nádory vedlejších dutin nosních diagnóza metabolismus patologie MeSH
- nádory z pojivové tkáně diagnóza metabolismus patologie MeSH
- počítačová rentgenová tomografie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
- MeSH
- algoritmy MeSH
- diagnostické zobrazování MeSH
- klinické laboratorní techniky MeSH
- lidé MeSH
- muskuloskeletální systém patologie ultrasonografie MeSH
- nádory měkkých tkání klasifikace patologie terapie MeSH
- nádory z pojivové tkáně klasifikace patologie terapie MeSH
- terapie metody MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
Atlas of tumor pathology, ISSN 0160-6344 ser. 3, fasc. 8
300 s. : il., tab. ; 28 cm
- MeSH
- nádory kostí patologie MeSH
- nádory z pojivové tkáně patologie MeSH
- Publikační typ
- atlasy MeSH
- Konspekt
- Patologie. Klinická medicína
- NLK Obory
- patologie
- onkologie
- ortopedie
- MeSH
- dospělí MeSH
- elektronová mikroskopie MeSH
- karcinom diagnóza ultrastruktura MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory štítné žlázy diagnóza patologie ultrastruktura MeSH
- nádory z pojivové tkáně patologie ultrastruktura MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory ledvin patologie MeSH
- nádory z pojivové tkáně patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- Ebsteinova anomálie patologie MeSH
- lidé MeSH
- mladiství MeSH
- nádory srdce patologie MeSH
- nádory z pojivové tkáně patologie MeSH
- perikard patologie MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- lidé středního věku MeSH
- lipidózy patologie MeSH
- nádory z pojivové tkáně patologie MeSH
- xantomatóza patologie MeSH
- Check Tag
- lidé středního věku MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
