Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019829 (Hodgkin's disease)
 30,247 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The hematologic, histologic and morphologic bone marrow findings of 18 patients with human immunodeficiency virus (HIV) infection were reviewed. The mean age of the patients studied was 27 years; age range was six to 63 years. The main bone marrow morphologic finding was hypercellularity (72%), which was mainly due to megakaryocytic hyperplasia with or without granulocytic or erythrocytic hyperplasia. Naked (denuded) megakaryocytic nuclei, which are considered an indicator of HIV infection, were present in 72% of the bone marrows examined. Reticuloendothelial iron blockade was identified in 78% of cases. Other less frequent findings included erythrocytic dysplasia (44%), plasmacytosis (28%), nonspecific granulomas (17%), Hodgkin's and non-Hodgkin's lymphoma (17%), lymphocytic aggregates (11%) and histiocytosis (6%) . The bone marrow findings in this series of HIV patients appear to be similar to what has been previously reported from other countries.
 ...
PMID:Bone marrow morphologic findings in patients with human immunodeficiency virus (HIV) infection. 1737 95

Bronchoalveolar lavage is a useful diagnostic tool in diffuse or disseminated lung malignancies that do not involve the bronchial structures visible by endoscopy. The neoplastic histotype and the intraparenchymal neoplastic growth pattern are good predictors for diagnostic yield; adenocarcinoma, and tumors with lymphangitic or lepidic growth patterns are more easily diagnosed by bronchoalveolar lavage; in these cases the diagnostic yield reported is higher than 80%. In hematologic malignancies the diagnostic yield is quite good in secondary diffuse indolent B cell lymphomas and in primary B cell lymphomas of mucosa-associated lymphoid tissue (MALT) type but low in Hodgkin disease. Morphological analysis may be implemented by immunocytochemical or molecular tests to identify the cell lineage and the presence of monoclonality. Disorders in which bronchioloalveolar cell hyperplasia/dysplasia is a significant morphological component may have cytological features in bronchoalveolar lavage fluid that mimic lung neoplasms: acute respiratory distress syndrome (ARDS), acute interstitial pneumonitis (AIP), and acute exacerbation of idiopathic pulmonary fibrosis are the most important clinical entities in this group.
 ...
PMID:Bronchoalveolar lavage in malignancy. 1797 81

Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: Ectrodactyly-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Mammary (LMS syndrome, MIM 603543) [2]. In all those conditions congenital heart defects have been only occasionally found and to date, arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) has never been observed in patients affected by p63-related ectodermal dysplasia [9]. Here we describe for the first time this association.
 ...
PMID:R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 1945 Apr 41

Previous descriptions of familial myeloma have been mainly of Caucasian families. We report here eight African American families with familial multiple myeloma and monoclonal gammopathy identified over a 30 year period. Six patients with multiple myeloma (MM) and two with monoclonal gammopathy of unknown significance (MGUS) reported a family history of MM or had family members with MGUS found on screening. A pedigree compiled for each family included a history of other cancers. In the eight families, 21 of 58 first degree relatives had a plasma cell dyscrasia including 12 MM, eight MGUS, and one amyloidosis patient(s). The age of the MM patients ranged from 50 to 78 years (median 61 years). Four families had two members with MM, including one mother-son and three sibling pairs. Two MM families each had two additional first degree relatives with MGUS, with three generations involved in one family. Anticipation was suggested in two families with parent-child pairs with monoclonal gammopathy. The eight pedigrees had 66 members, 21 of whom had a diagnosis of cancer, including non-Hodgkin lymphoma and Hodgkin disease, or a clonal myeloproliferative disorder other than MM. Although the mode of genetic transmission and anticipation cannot be confirmed due to the small sample size, the increased number of MM and MGUS family members suggests underlying genetic susceptibility factors for plasma cell dyscrasias and possibly for other cancers in these families.
 ...
PMID:Familial myeloma and monoclonal gammopathy: a report of eight African American families. 1903 64

Congenital renal anomalies, Williams Syndrome and non-Hodgkin lymphoma all occur separately at low incidence, so their simultaneous presence in the same patient is exceptional. We present a young patient manifesting all three conditions. This child is a boy with a Williams Syndrome phenotype who was diagnosed with severe chronic kidney disease secondary to bilateral renal dysplasia/hypoplasia. Due to his small size, he received treatment with growth hormone. He progressed to end stage kidney disease and, after 8 months, a renal transplant was performed. A number of suspicious abdominal adenopathies were removed during the surgery and, thereafter, immunosupressive treatment with prednisone, azathioprine and cyclosporine was initiated. Examination of the biopsy tissue confirmed the presence of a T-cell lymphoblastic lymphoma. Appropriate chemotherapy was given, and the immunosupressive regimen was eventually reduced to prednisone alone. Now, 8 years since the initial diagnosis of T-cell lymphoblastic lymphoma and 6 years after the completion of the chemotherapy, the patient is still in complete remission with a functional donor kidney. We discuss some possible explanations of this association. Chemotherapy has not appeared to have affected the viability of the grafted kidney and, in fact, it may even have induced immunotolerance.
 ...
PMID:Renal dysplasia/hypoplasia, Williams Syndrome phenotype and non-Hodgkin lymphoma in the same patient: only a coincidence? 1906 74

Therapy-related myelodysplastic syndromes are possible complications in patients treated for previous hematologic malignancies. Therapeutic strategies in these type of disorders are still not well defined: azacitidine has been recently approved for the treatment of higher risk myelodysplastic syndromes, but few data are published relating possible efficacy in therapy-related dysplastic disorders. We reported here 4 patients treated with azacitidine for therapy related dysplasia after chemotherapy for non-Hodgkin lymphoma.
 ...
PMID:5'-Azacitidine for therapy-related myelodysplastic syndromes after non-Hodgkin lymphoma treatment. 2168 17

Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder with prominent skeletal, renal, immunological, and ectodermal abnormalities. It is caused by mutations of SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), which encodes a DNA stress response protein. To determine the relationship of this function to the SIOD phenotype, we profiled the cancer prevalence in SIOD and assessed if defects of nucleotide excision repair (NER) and nonhomologous end joining (NHEJ), respectively, explained the ectodermal and immunological features of SIOD. Finally, we determined if Smarcal1(del/del) mice had hypersensitivity to irinotecan (CPT-11), etoposide, and hydroxyurea (HU) and whether exposure to these agents induced features of SIOD. Among 71 SIOD patients, three had non-Hodgkin lymphoma (NHL) and one had osteosarcoma. We did not find evidence of defective NER or NHEJ; however, Smarcal1-deficient mice were hypersensitive to several genotoxic agents. Also, CPT-11, etoposide, and HU caused decreased growth and loss of growth plate chondrocytes. These data, which identify an increased prevalence of NHL in SIOD and confirm hypersensitivity to DNA damaging agents in vivo, provide guidance for the management of SIOD patients.
 ...
PMID:SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo. 2288 40

Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphyseal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease. The present report describes, for the first time, a Schimke immuno-osseous dysplasia child with SMARCAL1 missense mutation (R561H) and manifestations of intussusception secondary to Epstein-Barr virus-negative non-Hodgkin lymphoma, who expired due to septicemia following chemotherapy. The report emphasizes the necessity of more limited immunosuppressive protocols in Schimke immuno-osseous dysplasia patients with lymphoproliferative disorders.
 ...
PMID:Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia. 2335 35

Schimke Immunoosseous Dysplasia (SIOD) is a rare, autosomal recessive disorder of childhood with classical features of spondyloepiphyseal dysplasia, renal failure, and T cell immunodeficiency. SIOD has been associated with several malignancies, including non-Hodgkin lymphoma and osteosarcoma. About half of SIOD patients have biallelic mutations in SMARCAL1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1). This gene encodes an annealing helicase and replication stress response protein that localizes to damage-stalled DNA replication forks. We report a child with SIOD and a novel S859P missense mutation in SMARCAL1 who developed undifferentiated carcinoma of the sinus.
 ...
PMID:Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child. 2363 Jan 35

Spectrum of causes for renal dysfunction in patients with hematolymphoid malignancy (excluding plasma cell dyscrasia) is varied. A retrospective evaluation of "native" renal biopsies referred to our institute during the period from January 2010 to December 2013 revealed 12 cases. Age ranged between 7 and 69 (median 54.5) years. All patients were males. The neoplasms included non-Hodgkin lymphoma, chronic lymphocytic leukemia, acute lymphoblastic leukemia, Burkitt's lymphoma, intravascular lymphoma, Hodgkin lymphoma and chronic myeloid leukemia. Proteinuria was noted in 66% of the patients (nephrotic range in 5, subnephrotic range in 3). Renal insufficiency was noted in 100% patients. Malignancy-related kidney injury was noted in 75% of the cases. Renal histology showed lymphomatous infiltration (8), membranoproliferative glomerulonephritis (MPGN) (3), intracapillary monoclonal deposit disease (1) and intravascular lymphoma (1). Distribution of lymphomatous infiltration was diffuse in 50% and focal in 50%. We observed that renal dysfunction was predominantly a direct effect, that is, lymphomatous invasion. Paraneoplastic glomerulopathic changes occur in the form of MPGN. Proteinuria of >2 g/day correlated with glomerular disease.
...
PMID:Spectrum of renal involvement in hematolymphoid neoplasms: Renal biopsy findings of 12 cases. 2619 70


<< Previous 1 2 3 4 5 Next >>