Východiska: Castlemanova choroba (Castleman disease – CD) nese název po autorovi prvního popisu. Používá se pro ložisko či ložiska charakteru nemaligní lymfoproliferace. Dle rozsahu postižení organizmu se dělí na dvě základní formy, unicentrickou formu (unicentric Castleman disease – UCD) a multicentrickou formu, přičemž UCD je tvořena hyalinně vaskulárním typem CD. Pozorování: Prvním symptomem v popsaném případě UCD byly bolesti vyzařující do levé horní končetiny, obzvláště při pohybu. Vyšetření krční páteře pomocí MR odhalilo jako příčinu patologickou expanzi na pomezí krku a horního mediastina, více vlevo. Cílená biopsie prokázala CD, hyalinně vaskulární typ. Dle PET/CT zobrazení s využitím fluorodeoxyglukózy (FDG-PET/CT) se jednalo o jediné patologické ložisko v těle. Velikost tumorózní rezistence neumožnovala bezpečnou resekci, a tak jediným řešením bylo podávání adjuvantní léčby. Pacientka zahájila léčbu ve složení rituximab 850 mg v den 1 28denního cyklu, cyklofosfamid 600 mg v dny 1 a 15 a dexametazon 20 mg také v dny 1 a 15 28denního cyklu. Pro individuální intoleranci cyklofosfamidu v prvním cyklu bylo podávání tohoto léku přerušeno a od třetího cyklu dostávala místo cyklofosfamidu bendamustin v celkové dávce 100 mg v dny 1 a 15. Výsledky: Zobrazení pomocí FDG-PET/CT po devíti cyklech léčby prokázalo výrazné zmenšení velikosti infiltrátu a zmenšení míry akumulace FDG. To umožnilo týmu hrudního chirurga a kardiochirurga kompletní odstranění až do zdravé tkáně. Závěr: Léčbou volby pro UCD je operační odstranění. V případě, že uložení či velikost ložiska neumožnuje radikální operaci, je možné dosáhnout zmenšení uvedenou medikamentózní léčbou. V popsaném případě kombinace rituximabu, bendamustinu a dexametazonu zmenšila velikost ložiska, což umožnilo jeho kompletní resekci.
Background: Castleman disease (CD) is a historical name derived from the name of the surgeon who first described it. It is used for lesions or foci of the character of non-malignant lymphoproliferative activity. According to the extent of the affliction, it is divided into two basic forms, the unicentric form (UCD) and the multicentric form of Castleman disease, where UCD is formed by the hyaline vascular type of CD. Observation: The first symptom in the described case of UCD was pain radiating to the left upper limb, especially when moving. MRI of the cervical spine revealed pathological expansion on the border between the neck and the upper mediastinum, more on the left. Targeted biopsy showed Castleman disease, hyaline vascular type. According to PET/CT imaging with fluorodeoxyglucose (FDG-PET/CT), it was the only pathological lesion in the body. The size of the tumour resistance did not allow safe resection, so the only solution was to administer adjuvant treatment. The patient started treatment with rituximab 850 mg on day 1 of a 28-day cycle, cyclophosphamide 600 mg on days 1 and 15 and dexamethasone 20 mg, also on days 1 and 15 of a 28-day cycle. Due to individual intolerance of cyclophosphamide in the first cycle, the administration of this drug was discontinued, and from the third cycle onwards, instead of cyclophosphamide, she received bendamustine at a total dose of 100 mg on days 1 and 15. Results: FDG-PET/CT imaging after 9 cycles of treatment showed a marked reduction in the infiltrate size and a decrease in the rate of FDG accumulation. This allowed the team of thoracic and cardiac surgeons to completely remove it down to healthy tissue. Conclusion: The treatment of choice for UCD is surgical removal. If the location or size of the lesion does not allow radical surgery, it is possible to achieve reduction by the mentioned drug treatment. In the case described, the combination of rituximab, bendamustine and dexamethasone reduced the size of the lesion, which allowed its complete resection.
- MeSH
- Bendamustine Hydrochloride pharmacology therapeutic use MeSH
- Dexamethasone pharmacology therapeutic use MeSH
- Diagnosis, Differential MeSH
- Castleman Disease * diagnosis drug therapy classification MeSH
- Drug Therapy, Combination * methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Lymphoproliferative Disorders diagnosis drug therapy classification MeSH
- Rituximab pharmacology therapeutic use MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
Flow cytometry immunophenotyping is critical for the diagnostic classification of mature/peripheral B-cell neoplasms/B-cell chronic lymphoproliferative disorders (B-CLPD). Quantitative driven classification approaches applied to multiparameter flow cytometry immunophenotypic data can be used to extract maximum information from a multidimensional space created by individual parameters (e.g., immunophenotypic markers), for highly accurate and automated classification of individual patient (sample) data. Here, we developed and compared five diagnostic classification algorithms, based on a large set of EuroFlow multicentric flow cytometry data files from a cohort 659 B-CLPD patients. These included automatic population separators based on Principal Component Analysis (PCA), Canonical Variate Analysis (CVA), Neighbourhood Component Analysis (NCA), Support Vector Machine algorithms (SVM) and a variant of the CA(Canonical Analysis) algorithm, in which the number of SDs (Standard Deviations) varied for each of the comparisons of different pairs of diseases (CA-vSD). All five classification approaches are based on direct prospective interrogation of individual B-CLPD patients against the EuroFlow flow cytometry B-CLPD database composed of tumor B-cells of 659 individual patients stained in an identical way and classified a priori by the World Health Organization (WHO) criteria into nine diagnostic categories. Each classification approach was evaluated in parallel in terms of accuracy (% properly classified cases), precision (multiple or single diagnosis/case) and coverage (% cases with a proposed diagnosis). Overall, average rates of correct diagnosis (for the nine B-CLPD diagnostic entities) of between 58.9 % and 90.6 % were obtained with the five algorithms, with variable percentages of cases being either misclassified (4.1 %-14.0 %) or unclassifiable (0.3 %-37.0 %). Automatic population separators based on CA, SVM and PCA showed a high average level of correctness (90.6 %, 86.8 %, and 86.0 %, respectively). Nevertheless, this was at the expense of proposing a considerable number of multiple diagnoses for a significant proportion of the test cases (54.5 %, 53.5 %, and 49.6 %, respectively). The CA-vSD algorithm generated the smaller average misclassification rate (4.1 %), but with 37.0 % of cases for which no diagnosis was proposed. In contrast, the NCA algorithm left only 2.7 % of cases without an associated diagnosis but misclassified 14.0 %. Among correctly classified cases (83.3 % of total), 91.2 % had a single proposed diagnosis, 8.6 % had two possible diagnoses, and 0.2 % had three. We demonstrate that the proposed AI algorithms provide an acceptable level of accuracy for the diagnostic classification of B-CLPD patients and, in general, surpass other algorithms reported in the literature.
- MeSH
- Algorithms MeSH
- B-Lymphocytes * pathology MeSH
- Immunophenotyping * methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Lymphoproliferative Disorders * diagnosis classification MeSH
- Flow Cytometry * methods MeSH
- Aged MeSH
- Support Vector Machine MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Comparative Study MeSH
- MeSH
- Anemia diagnosis drug therapy classification blood MeSH
- Blood Coagulation Disorders diagnosis etiology drug therapy classification MeSH
- Hemic and Lymphatic Diseases * diagnosis etiology drug therapy classification MeSH
- Blood Cell Count classification standards MeSH
- Lymphoproliferative Disorders diagnosis classification blood MeSH
- Myelodysplastic Syndromes diagnosis classification blood MeSH
- Myeloproliferative Disorders diagnosis classification blood MeSH
- Hemostatic Disorders diagnosis drug therapy classification blood MeSH
- Thrombophilia diagnosis etiology drug therapy classification MeSH
- Publication type
- Review MeSH
V dôsledku pribúdajúcich poznatkov platnosť žiadnej klasifikácie nádorov nemôže byť neobmedzená. Cieľom predloženého článku je predstaviť čitateľom najdôležitejšie zmeny vo WHO klasifikácii lymfoidných neoplázií non-Hodgkinovho typu, ktoré boli avizované a publikované v súvislosti s jej revíziou, resp. aktualizáciou v roku 2016. Tieto zmeny vychádzajú z nových poznatkov o patogenéze a genetike ochorení, spresňujú diagnostické kritériá, zohľadňujú existenciu zriedkavých foriem a zavádzajú nové provizórne kategórie lymfoidných neoplázií. WHO klasifikácia sa stáva viac komplexnejšou a počet chorobných jednotiek sa zvyšuje. Do momentu knižného vydania klasifikácie však treba všetky uvedené zmeny chápať len ako predbežné a neúplné, vyžadujúce prácu s dostupnou literatúrou.
As a result of increasing knowledge, the validity of any tumour classification could not be unlimited. The aim of this article is to review the most important changes in the WHO classification of lymphoid neoplasms of a non-Hodgkin type that have been announced and published in relation to its revision in 2016. These changes are based on better understanding of pathogenesis and genetics of diseases, refine diagnostic criteria, reflect existence of rare forms and introduce new provisional categories of lymphoid neoplasms. WHO classification becomes more complex and the number of disease entities is increasing. However, until the the monography will be published, all changes are preliminary and incomplete, requiring work with available lymphoma literature.
- MeSH
- Lymphoma, Large-Cell, Anaplastic diagnosis classification MeSH
- Lymphoma, B-Cell classification MeSH
- Diagnosis, Differential MeSH
- Lymphoma, Follicular diagnosis classification MeSH
- Classification MeSH
- Leukemia, Lymphoid diagnosis MeSH
- Lymphoma, T-Cell diagnosis classification MeSH
- Lymphoma, Mantle-Cell MeSH
- Lymphoproliferative Disorders * classification MeSH
- Mutation genetics MeSH
- Lymphoma, Non-Hodgkin classification MeSH
- Prognosis MeSH
- Publication type
- Review MeSH
- MeSH
- Clostridioides difficile MeSH
- Diagnosis, Differential MeSH
- Lymphoma, T-Cell, Cutaneous * diagnosis classification MeSH
- Skin anatomy & histology MeSH
- Humans MeSH
- Lymphoproliferative Disorders classification MeSH
- Mycosis Fungoides pathology therapy MeSH
- Enterocolitis, Pseudomembranous MeSH
- Aged, 80 and over MeSH
- Sezary Syndrome MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Transplantation, Autologous adverse effects MeSH
- Humans MeSH
- Lymphoproliferative Disorders etiology classification therapy MeSH
- Myelodysplastic Syndromes etiology MeSH
- Neoplasms, Second Primary * etiology prevention & control MeSH
- Hematopoietic Stem Cell Transplantation * adverse effects MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
X-lymfoproliferativní syndrom (XLP) je vzácná vrozená imunodeficience vyskytující se s incidencí 1–3 nemocných na 1 milion chlapců. Příčinou onemocnění je poškození genu SH2D1A (u XLP-1), resp. BIRC4 (u XLP-2). Většina klinických příznaků se u obou podjednotek překrývá (např. těžce probíhají infekční mononukléoza, resp. hemofagocytující lymfohistiocytóza – HLH, porucha tvorby imunoglobulinů), jiné jsou typické pouze pro jednotlivé podjednotky (např. maligní lymfom u XLP-1, hemoragická kolitida u XLP-2). Mezi vzácnější projevy patří aplastická anemie, vaskulitida, chronická gastritida a kožní obtíže. Jedinou kauzální léčbou je transplantace hematopoetických buněk (HSCT). V České a Slovenské republice bylo dosud diagnostikováno 7 pacientů s XLP-1 a jeden pacient s XLP-2. Pacienti se narodili v rozmezí let 1961–2005, onemocnění se u nich projevilo s mediánem 4,5 let věku (19 měsíců – 16 let). Dva pacienti zemřeli na následky akutně probíhající HLH, jeden pacient zemřel při HSCT. Jeden pacient podstoupil úspěšnou HSCT, další 4 žijící pacienti nebyli transplantováni. Medián věku žijících pacientů je 22 let (17–27 let). Autoři v textu shrnují poznatky o patofyziologii, diagnostice a léčbě XLP a popisují průběh onemocnění pacientů léčených v našich zemích. Klíčová slova: X-lymfoproliferativní syndrom, primární imunodeficience, transplantace hematopoetických buněk, SAP, XIAP
X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency with incidence 1–3 patients in a million boys. The condition is caused by a defect either in SH2D1A (XLP-1) or BIRC4 (XLP-2) gene. Most of the clinical symptoms overlap in both of the variants of the disease (e.g. fulminant infectious mononucleosis, haemophagocytic lymphohistiocytis – HLH, impairment of immunoglobulin production), other signs are typical only for the particular disease variant (e.g. malignant lymphoma in XLP-1, hemorrhagic colitis in XLP-2). Aplastic anaemia, vasculitis, chronic gastritis and skin ailment manifest rarely. The only causal therapy is haematopoietic stem cell transplantation (HSCT). In the Czech Republic there have been so far diagnosed 7 patients with XLP-1 and one patient with XLP-2. The patients were born in between 1961 and 2005. The disease manifested with median 4.5 years of age (range 19 months to 16 years). Two patients died due to fulminant HLH, one patient died during HSCT. One patient underwent successful HSCT, whereas other 4 living patients have not been transplanted. Median of age of the living patients is 22 years (range 17–27 years). In the text the authors summarize the current opinion on the pathophysiology, diagnostics and treatment of XLP. The course of the disease in the patients treated in the Czech Republic and Slovakia is presented.
- MeSH
- Gene Deletion MeSH
- Child MeSH
- Epstein-Barr Virus Infections MeSH
- Intracellular Signaling Peptides and Proteins * physiology genetics deficiency MeSH
- Disease Attributes MeSH
- Infant MeSH
- Skin Manifestations MeSH
- Humans MeSH
- Lymphohistiocytosis, Hemophagocytic MeSH
- Lymphoproliferative Disorders * diagnosis genetics immunology classification therapy MeSH
- Adolescent MeSH
- Child, Preschool MeSH
- Signs and Symptoms MeSH
- Prognosis MeSH
- Immunologic Deficiency Syndromes genetics immunology MeSH
- Hematopoietic Stem Cell Transplantation MeSH
- Treatment Outcome MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Child, Preschool MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
- Keywords
- Targretin,
- MeSH
- Chemotherapy, Adjuvant utilization MeSH
- Lymphoma, B-Cell diagnosis etiology classification MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- Drug Therapy methods utilization MeSH
- Photochemotherapy utilization MeSH
- Phototherapy MeSH
- Lymphoma, T-Cell, Cutaneous diagnosis MeSH
- Humans MeSH
- Lymphoma diagnosis classification therapy MeSH
- Lymphoproliferative Disorders classification MeSH
- Mycosis Fungoides diagnosis therapy MeSH
- Skin Neoplasms diagnosis classification therapy MeSH
- Prognosis MeSH
- Radiotherapy MeSH
- Sezary Syndrome diagnosis MeSH
- Neoplasm Staging MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
