AIMS: Ossifying fibromyxoid tumour is a rare mesenchymal neoplasm predominantly affecting adults characterised by a multinodular growth pattern and the presence of a fibrous pseudocapsule with areas of ossification. Prompted by the recognition of a non-ossifying ossifying fibromyxoid tumour with lipomatous differentiation which caused diagnostic difficulty, we sought to further explore cases of ossifying fibromyxoid tumour with non-osseous heterologous elements. METHODS AND RESULTS: A search of our institutional and consultation archives revealed three additional cases that demonstrated lipomatous components and two cases with cartilaginous differentiation. RNA-sequencing revealed fusions involving PHF1 (n = 4) or EPC1 (n = 1) in all (five of five) cases tested, including EPC1::PHC1 and JAZF1::PHF1 fusions, which have not been reported before in ossifying fibromyxoid tumour. CONCLUSION: These six cases expand the histomorphological spectrum of ossifying fibromyxoid tumour, introducing lipomatous differentiation as a hitherto undocumented feature. Awareness of these rare variants will ensure appropriate diagnosis and clinical management.
- MeSH
- buněčná diferenciace MeSH
- chrupavka patologie MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- lipom * patologie diagnóza genetika MeSH
- nádory měkkých tkání * patologie diagnóza genetika MeSH
- osifikující kostní fibrom * patologie diagnóza genetika 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
BACKGROUND 21-hydroxylase deficiency, an essential enzyme for glucocorticoid and mineralocorticoid synthesis, is the cause of congenital adrenal hyperplasia (CAH) in more than 95% of cases. It is an autosomal recessive disorder encoded by the CYP21A2 gene, categorized into classical forms, which encompass the salt-wasting (SW) and simple virilizing (SV) forms, as well as the nonclassical form (NC). The aim of medical treatment is to replace missing glucocorticoids and, if necessary, mineralocorticoids, while also reducing elevated adrenal androgens. CASE REPORT We present the case of a 42-year-old woman with CAH who discontinued therapy during adolescence and was admitted to hospital with fatigue, nausea, and severe abdominal pain. A CT scan showed an extreme enlargement of the adrenal glands. Laboratory tests revealed elevated levels of 17-hydroxyprogesterone and other adrenal androgens, along with normal plasma metanephrine levels. Decreased morning cortisol levels suggested partial adrenal insufficiency requiring glucocorticoid replacement therapy. Due to the development of several serious complications and clinical deterioration, the multidisciplinary team recommended bilateral removal of masses measuring 300×250×200 mm on the right side and 250×200×200 mm on the left side. Histological and immunochemical examination confirmed the presence of giant myelolipomas with adrenal cortex hyperplasia. CONCLUSIONS Adrenal tumors, particularly myelolipomas, have a higher prevalence in patients with CAH. Our case report provides further evidence of the suspected link between non-compliant CAH therapy and the development of myelolipomas, along with promotion of their pronounced growth.
- MeSH
- dospělí MeSH
- glukokortikoidy terapeutické užití MeSH
- kongenitální adrenální hyperplazie * komplikace diagnóza genetika MeSH
- lidé MeSH
- lipom * MeSH
- myelolipom * diagnóza chirurgie komplikace MeSH
- nadledviny MeSH
- nádory nadledvin * komplikace diagnóza MeSH
- steroid-21-hydroxylasa genetika MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Leiomyomas with adipocytic differentiation typically occur in the uterus although they may arise at several sites in the female genital tract. While these are most commonly spindled leiomyomas with a component of adipocytic tissue ("conventional lipoleiomyomas"), there is a relatively ill-defined assortment of leiomyoma variants with adipocytic differentiation. We performed a morphologic, immunohistochemical and MDM2 gene amplification analysis of a large series of gynecologic leiomyomas with adipocytic differentiation to better define the clinicopathologic spectrum. Forty four tumors from 44 patients were identified and classified as conventional lipoleiomyoma (n = 21), adipocyte-rich lipoleiomyoma (defined as tumor volume >80 % adipocytes, n = 9); cellular lipoleiomyoma (n = 9); hydropic lipoleiomyoma (n = 3); and lipoleiomyoma with bizarre nuclei (n = 2). Patient age ranged from 32 to 83 years (mean 63; median 63). Primary location included uterine corpus (35), uterine cervix (3), uterine corpus/cervix (1), broad ligament (2), parametrium (2), and round ligament (1). Tumor size was 0.6-30 cm (mean 8; median 6). None of the 34 patients with follow up developed further disease (range 1-311 months; mean 65; median 41). Immunohistochemical expression of ER, PR, HMB45, Melan A, Cathepsin K and WT-1 in lipoleiomyomas and variants was similar to patterns in non-adipocytic gynecologic leiomyomas. MDM2 amplification fluorescence in situ hybridization performed on 14 tumors was negative in all. Our findings suggest female genital tract conventional lipoleiomyomas and lipoleiomyoma variants largely parallel their non-adipocytic counterparts in morphology and immunophenotype, and may be categorized using non-adipocytic leiomyoma histologic criteria.
- MeSH
- dospělí MeSH
- hybridizace in situ fluorescenční MeSH
- leiomyom * patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- lipom * genetika patologie MeSH
- nádor z hladké svalové tkáně * MeSH
- nádory dělohy * patologie MeSH
- protoonkogenní proteiny c-mdm2 genetika MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- uterus patologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Čisté děložní lipomy jsou extrémně vzácné benigní děložní nádory. Tato práce prezentuje případ 68leté pacientky se symptomatickou myomatózní formací ve fundu děložním potvrzenou na ultrazvuku. Hysterektomie byla provedena spolu s přední poševní plastikou jako možnost léčby pro souběžnou cystokélu II. stupně. Byla potvrzena histologická diagnóza čistého děložního lipomu s S-100 pozitivním imunohistochemickým barvením. Tento případ nám ukazuje, že lipom dělohy klinicky i diagnosticky velmi dobře imituje myom. Domníváme se, že chirurgický zákrok jako terapeutický přístup je oprávněný u symptomatických pacientek.
Pure uterine lipomas are extremely rare benign uterine tumors. This paper presents the case of a 68-year-old patient with symptomatic leiomyoma-like fundus formation on ultrasound. A hysterectomy was performed with anterior vaginal plastic surgery as a treatment option for concomitant cystocele grade II. Histological diagnosis of pure uterine lipoma with S-100 positive immunohistochemical staining was confirmed. This case shows us that uterine lipoma clinically and diagnostically mimics myoma very well. We believe that surgery as a therapeutical approach is justified in symptomatic patients.
- MeSH
- gynekologické chirurgické výkony metody MeSH
- lidé MeSH
- lipom * chirurgie diagnóza MeSH
- nádory dělohy * chirurgie diagnóza MeSH
- senioři MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Lipoblastoma-like tumor (LLT) is a benign soft tissue tumor demonstrating mixed morphologic features of lipoblastoma, myxoid liposarcoma, and spindle cell lipoma but lacking genetic alterations associated with those tumors. LLT was originally thought to be specific to the vulva but has since been reported in the paratesticular region. The morphologic features of LLT overlap with those of "fibrosarcoma-like lipomatous neoplasm" (FLLN), a rare, indolent adipocytic neoplasm considered by some to form part of the spectrum of atypical spindle cell and pleomorphic lipomatous tumor. We compared the morphologic, immunohistochemical, and genetic features of 23 tumors previously classified as LLT (n = 17) and FLLN (n = 6). The 23 tumors occurred in 13 women and 10 men (mean age, 42 years; range, 17 to 80 years). Eighteen (78%) cases arose in the inguinogenital region, whereas 5 tumors (22%) involved noninguinogenital soft tissue, including the flank (n = 1), shoulder (n = 1), foot (n = 1), forearm (n = 1), and chest wall (n = 1). Microscopically, the tumors were lobulated and septated, with variably collagenized fibromyxoid stroma, prominent thin-walled vessels, scattered univacuolated or bivacuolated lipoblasts, and a minor component of mature adipose tissue. Using immunohistochemistry, 5 tumors (42%) showed complete RB1 loss, with partial loss in 7 cases (58%). RNA sequencing, chromosomal microarray, and DNA next-generation sequencing study results were negative for significant alterations. There were no clinical, morphologic, immunohistochemical, or molecular genetic differences between cases previously classified as LLT or FLLN. Clinical follow-up (11 patients [48%]; range, 2-276 months; mean, 48.2 months) showed all patients were alive without disease, and only one patient had experienced a single local recurrence. We conclude that LLT and FLLN represent the same entity, for which "LLT" seems most appropriate. LLT may occur in either sex and any superficial soft tissue location. Careful morphologic study and appropriate ancillary testing should allow for the distinction of LLT from its potential mimics.
- MeSH
- dospělí MeSH
- fibrosarkom * MeSH
- lidé MeSH
- lipoblastom * genetika MeSH
- lipom * genetika patologie MeSH
- liposarkom * genetika MeSH
- molekulární biologie MeSH
- myxoidní liposarkom * MeSH
- nádorové biomarkery genetika MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Lipoblastoma is a rare neoplasm of the embryonal white fat. It occurs most commonly in children under the age of 3 years and usually inflicts the superficial soft tissues of trunk and extremities. We present the case of a 3-year-old male patient with a successfully resected primary cardiac right-atrial lipoblastoma with COL1A2::PLAG1 gene fusion.
- MeSH
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- lipoblastom * genetika chirurgie patologie MeSH
- předškolní dítě MeSH
- srdeční síně chirurgie patologie MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- biopsie MeSH
- cystosarcoma phyllodes diagnóza patologie terapie MeSH
- fibroadenom diagnóza patologie terapie MeSH
- fibrocystická nemoc prsu diagnóza patologie terapie MeSH
- hamartom diagnóza patologie terapie MeSH
- intraduktální neinfiltrující karcinom diagnóza patologie terapie MeSH
- lidé MeSH
- lipom chirurgie diagnóza patologie MeSH
- mamografie MeSH
- mastodynie etiologie farmakoterapie MeSH
- nádory prsu * diagnóza patologie terapie MeSH
- nemoci prsů MeSH
- papilom intraduktální diagnóza patologie MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
Vřetenobuněčný / pleomorfní lipom je poměrně vzácný mezenchymální nádor vyskytující se nejčastěji v podkožní tukové tkáni šíje a zad u starších mužů řazený mezi adipocytické nádory. Mikroskopicky nacházíme dobře ohraničený tumor sestávající z vřetenitých buněk v myxoidním stromatu s v různém množství zastoupenou adultní tukovou tkání, charakteristická jsou vmezeřená kolagenní vlákna a žírné buňky ve stromatu. Imunohistochemicky je pravidlem pozitivita CD34. Nádor je řazen do rodiny lézí s delecí chromozomu 13 a/nebo 16 se ztrátou tumor supresorového genu RB1. Součástí této jednotky je i několik histologických variant včetně raritní “fat-poor” neboli “nízkotučné”, kde jsou tukové buňky v minimálním množství nebo úplně chybí. V této práci referujeme případ staršího muže s objemným tumorem šíje, který byl na základě histologického vyšetření, pozitivity CD34 a výpadku exprese Rb1 diagnostikován jako vřetenobuněčný lipom se znaky myxoidní a “fat-poor” varianty. Diagnózu podpořil následný molekulární průkaz delece RB1. Článek diskutuje poměrně širokou problematiku diferenciální diagnostiky vřetenobuněčných myxoidních CD34+ mezenchymálních tumorů.
Spindle cell / pleomorphic lipoma is a relatively rare mesenchymal adipocytic tumor occurring typically in subcutaneous fat tissue in the posterior neck region in middle aged and elderly male. Microscopically, the tumor is usually well-circumscribed consisting of spindle shaped cells with myxoid stroma and variable amount of adult fat tissue. Entrapped collagen fibers and mast cells are constant finding. The lesion is characterized by positive CD34 immunohistochemistry. The tumor belongs to a family with chromosomes 13 and/or 16 deletion and loss of tumor suppressor gene RB1. Several histological variants including “fat-poor” spindle cell lipoma with minimal or absent fat cells may rarely occur. In this article we report a case of elderly man with a voluminous posterior neck tumor diagnosed as a fat-poor spindle cell lipoma based on histological examination, CD34-positivity and loss of Rb1 expression shown by immunohistochemistry. The diagnosis was confirmed by a molecular proof of RB1 deletion. The paper discusses a wide differential diagnosis of spindle cell myxoid CD34+ mesenchymal tumors.
- Klíčová slova
- nízkotučná varianta,
- MeSH
- genetické techniky MeSH
- histologické techniky MeSH
- krk patologie MeSH
- lidé MeSH
- lipom * diagnóza genetika patologie MeSH
- senioři nad 80 let MeSH
- vysoce účinné nukleotidové sekvenování metody MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- Publikační typ
- kazuistiky MeSH
