Published data describing the efficacy and safety of autologous stem-cell transplantation (autoSCT) in post-transplant lymphoproliferative disorders (PTLD) is limited to case reports. This is a retrospective analysis of 21 patients reported to the EBMT registry who received an autoSCT for PTLD post solid organ transplant (SOT). Median age at autoSCT was 47 (range: 22-71) years. The commonest SOTs were kidney (48%) and liver (24%). Commonest histologies included DLBCL-type PTLD (14/21) and plasmacytoma-like PTLD (3/21). Patients received a median of two lines of therapy (range: 1-4) pre-autoSCT. ECOG performance status pre-autoSCT was 0 in 14% and 1 in 86%. Remission status pre-autoSCT was CR 47% and PR 38%. BEAM conditioning was used in 57% and high-dose melphalan in 10%. The median follow-up post-autoSCT was 64 months for alive patients. 3-year PFS was 62% [95% confidence interval (CI) 44-87%] and 3-year OS was 61% [95% CI:43-86]. There were 12 deaths, including four related to autoSCT. 100-day non-relapse-mortality (NRM) was 14% and 1-year NRM was 24%. This study suggests that autoSCT, although feasible and with potential therapeutic activity, is associated with a high NRM, primarily driven by infectious toxicity. A multi-disciplinary approach, expert microbiological input and stringent patient selection are required to optimise outcomes.

• MeSH
• autologní transplantace MeSH
• difúzní velkobuněčný B-lymfom * MeSH
• lidé MeSH
• lokální recidiva nádoru MeSH
• lymfoproliferativní nemoci * etiologie   terapie   MeSH
• retrospektivní studie MeSH
• transplantace hematopoetických kmenových buněk * škodlivé účinky   MeSH
• transplantace kmenových buněk MeSH
• transplantace orgánů * škodlivé účinky   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• bicyklické sloučeniny heterocyklické aplikace a dávkování   MeSH
• hematologické nádory patologie   terapie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfoproliferativní nemoci patologie   terapie   MeSH
• převzatá imunita * MeSH
• sulfonamidy aplikace a dávkování   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH
• práce podpořená grantem MeSH
• úvodníky MeSH
• Názvy látek
• bicyklické sloučeniny heterocyklické MeSH
• sulfonamidy MeSH
• venetoclax MeSH Prohlížeč

BACKGROUND: Chylothorax is a rare condition which can be associated with malignant lymphoproliferative disorders (LPDs). We retrospectively analyzed the results of the conservative treatment of 10 patients with persistent non-traumatic malignant chylothorax. RESULTS: Conservative treatment lead to a decline of chylothorax after mean of 66 days and consisted of the treatment of the underlying disease and of simultaneous long-term supportive care (drainage of the thoracic cavity, dietary measures and nutrition management). In most cases (80%), chylothorax disappeared only after a successful therapeutic response of the underlying disease. Low-dose radiotherapy had very good effects in two patients. CONCLUSION: Conservative treatment of malignant chylothorax can be considered a suitable method. Based on our results, successful treatment of the lymphoproliferative disorder seems to be a very important factor for the disappearance of chylothorax.

• Klíčová slova
• Chronic lymphocytic leukemia, Chylothorax, Non-Hodgkin′s lymphoma, Radiotherapy, Thoracic duct,
• MeSH
• chylotorax farmakoterapie   radioterapie   terapie   MeSH
• ductus thoracicus účinky léků   účinky záření   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfoidní leukemie farmakoterapie   radioterapie   terapie   MeSH
• lymfoproliferativní nemoci farmakoterapie   radioterapie   terapie   MeSH
• nehodgkinský lymfom farmakoterapie   radioterapie   terapie   MeSH
• retrospektivní studie MeSH
• senioři MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND: Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). OBJECTIVE: We sought to review the clinical, immunologic, histopathologic, and radiologic features of APDS in a large genetically defined international cohort. METHODS: We applied a clinical questionnaire and performed review of medical notes, radiology, histopathology, and laboratory investigations of 53 patients with APDS. RESULTS: Recurrent sinopulmonary infections (98%) and nonneoplastic lymphoproliferation (75%) were common, often from childhood. Other significant complications included herpesvirus infections (49%), autoinflammatory disease (34%), and lymphoma (13%). Unexpectedly, neurodevelopmental delay occurred in 19% of the cohort, suggesting a role for PI3Kδ in the central nervous system; consistent with this, PI3Kδ is broadly expressed in the developing murine central nervous system. Thoracic imaging revealed high rates of mosaic attenuation (90%) and bronchiectasis (60%). Increased IgM levels (78%), IgG deficiency (43%), and CD4 lymphopenia (84%) were significant immunologic features. No immunologic marker reliably predicted clinical severity, which ranged from asymptomatic to death in early childhood. The majority of patients received immunoglobulin replacement and antibiotic prophylaxis, and 5 patients underwent hematopoietic stem cell transplantation. Five patients died from complications of APDS. CONCLUSION: APDS is a combined immunodeficiency with multiple clinical manifestations, many with incomplete penetrance and others with variable expressivity. The severity of complications in some patients supports consideration of hematopoietic stem cell transplantation for severe childhood disease. Clinical trials of selective PI3Kδ inhibitors offer new prospects for APDS treatment.

• Klíčová slova
• Activated phosphoinositide 3-kinase δ syndrome, PIK3CD gene, bronchiectasis, hematopoietic stem cell transplantation, immunodeficiency, p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency, phosphoinositide 3-kinase inhibitor, phosphoinositide 3-kinase δ,
• MeSH
• analýza přežití MeSH
• antibiotická profylaxe MeSH
• dítě MeSH
• dospělí MeSH
• fosfatidylinositol-3-kinasy třídy I antagonisté a inhibitory   genetika   MeSH
• herpetické infekce genetika   mortalita   terapie   MeSH
• infekce dýchací soustavy genetika   mortalita   terapie   MeSH
• inhibitory enzymů terapeutické užití   MeSH
• intravenózní imunoglobuliny terapeutické užití   MeSH
• kohortové studie MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfoproliferativní nemoci genetika   mortalita   terapie   MeSH
• mezinárodní spolupráce MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mutace genetika   MeSH
• myši MeSH
• předškolní dítě MeSH
• průzkumy a dotazníky MeSH
• recidiva MeSH
• syndromy imunologické nedostatečnosti genetika   mortalita   terapie   MeSH
• transplantace hematopoetických kmenových buněk MeSH
• zvířata MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• myši MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• fosfatidylinositol-3-kinasy třídy I MeSH
• inhibitory enzymů MeSH
• intravenózní imunoglobuliny MeSH
• PIK3CD protein, human MeSH Prohlížeč

SH2D1A gene defects are the cause of X-linked lymphoproliferative disorder (XLP-1), a rare condition characterized by severe immune dysregulation. We present a patient lacking the typical symptoms of XLP-1, but experiencing a severe unusual skin condition encompassing features of dermatosclerosis and vesiculobullous skin disease. A maternal cousin of the patient was diagnosed with XLP-1 and found to carry a deletion of the SH2D1A gene. SH2D1A deletion was also identified in our patient, which offered a possible explanation for his skin symptoms. Subsequent analysis showed that the deletion in both cousins was identical and involved the whole SH2D1A gene and a part of the adjacent ODZ1 gene. High phenotypic variability of XLP-1 observed in this family prompted us to analyze the genotype-phenotype correlation of 2 different-sized deletions involving SH2D1A and ODZ1 in 5 patients from 2 families, and we report the clinical and laboratory data on these individuals. Our findings illustrate the wide clinical variability of XLP-1, both inter- and intrafamilial, which may complicate the diagnosis of this condition. The comparison of phenotypes of our patients argues against a strong involvement of the ODZ1 gene in the skin disorder and other symptoms observed in our index patient. His hitherto not described severe skin condition extends the phenotypic range of XLP-1.

• MeSH
• aplastická anemie diagnóza   genetika   terapie   MeSH
• chromozomální delece * MeSH
• dítě MeSH
• dospělí MeSH
• exony genetika   MeSH
• fenotyp MeSH
• histiocytární sarkom diagnóza   terapie   MeSH
• infekční mononukleóza diagnóza   terapie   MeSH
• intracelulární signální peptidy a proteiny genetika   MeSH
• komorbidita MeSH
• lidé MeSH
• lidské chromozomy X genetika   MeSH
• lokalizovaná sklerodermie diagnóza   genetika   MeSH
• longitudinální studie MeSH
• lymfoproliferativní nemoci diagnóza   genetika   terapie   MeSH
• membránové proteiny genetika   MeSH
• mladiství MeSH
• předškolní dítě MeSH
• proteiny nervové tkáně MeSH
• SH2D1A protein MeSH
• tenascin MeSH
• transplantace periferních kmenových buněk MeSH
• vezikulobulózní nemoci kůže diagnóza   genetika   terapie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• intracelulární signální peptidy a proteiny MeSH
• membránové proteiny MeSH
• proteiny nervové tkáně MeSH
• SH2D1A protein, human MeSH Prohlížeč
• SH2D1A protein MeSH
• tenascin MeSH
• teneurin-1 MeSH Prohlížeč

BACKGROUND: Posttransplant lymphoproliferative disorder (PTLD) is increasingly recognized as a serious complication of solid organ transplantation in both children and adults. Factors associated with increased risk of PTLD include mismatch of recipient and donor EBV serologic status (seronegative recipient with seropositive donor), and intensive drug-induced immunosuppression. METHODS AND RESULTS: We searched MEDLINE for articles published since 1970 to January 2009. Search terms included posttransplant lymphoproliferative disorder, immunosuppression, posttransplant malignancy, treatment, antiviral agents, rituximab, interferon alpha, chemotherapy, radiation, surgery. Studies in English of adult and pediatric populations after solid organ transplantation were selected and analyzed. CONCLUSION: Screening of patients at risk and balancing the intensity of immunosuppression against the risk of allograft rejection could reduce the risk of developing PTLD. In patients who develop PTLD, the severity and extent of disease should be examined and an individualized treatment plan including immunosuppression reduction and other agents should accordingly be chosen.

• MeSH
• imunosupresiva škodlivé účinky   terapeutické užití   MeSH
• infekce virem Epsteina-Barrové komplikace   MeSH
• lidé MeSH
• lymfoproliferativní nemoci diagnóza   etiologie   prevence a kontrola   terapie   MeSH
• transplantace škodlivé účinky   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Názvy látek
• imunosupresiva MeSH

The majority of malignant haematological diseases is incurable by contemporary procedures and therefore new approaches are sought, based on recent findings on haematopoiesis and its regulation. One of the new approaches is the use of so-called biological response modifiers between the later interferons. Recently relatively abundant experience was assembled with therapy using alpha interferon. The author presents an account of hitherto achieved therapeutic results obtained with alpha interferon in neoplasias of myelopoiesis and lymphopoiesis.

• MeSH
• interferon typ I terapeutické užití   MeSH
• lidé MeSH
• lymfoproliferativní nemoci terapie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• Názvy látek
• interferon typ I MeSH