Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0023418 (leukemia)
 93,477 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 72-year-old man who had the very rare disease acute basophilic leukemia with the sole chromosomal finding of a monosomy 7. Most nuclear cells in the peripheral blood and bone marrow samples were either basophils or blasts. The blasts showed negative reaction with myeloperoxidase, periodic acid Schiff, chloroacetate esterase, alpha-naphthyl butyrate esterase, acid phosphatase, and Sudan black B. Metachromatic features of the blasts, however, were observed with toluidine blue stain. Electron microscopic evaluation showed the typical ultrastructure, with basophil and immature mast cell granules. Cytogenetic study revealed monosomy 7 in all metaphase cells, and this finding was confirmed by fluorescence in situ hybridization. The Philadelphia chromosome was absent. Review of the literature revealed abnormalities in cases of ABL. To our knowledge, the case reported here is the first to have basophilic leukemia with monosomy 7 as the only chromosome abnormality.
 ...
PMID:Monosomy 7 as the sole abnormality of an acute basophilic leukemia. 1721 28

Primary fallopian tube cancer (PFTC) is a rare disease, and its aetiological factors are poorly understood. Studies on PFTC in the setting of 2nd primary malignant neoplasms can provide clues on aetiology and also define the possible side effects of different treatment modalities for PFTC. A cohort of 2,084 cases with first PFTC was extracted from the data from 13 cancer registries from Europe, Canada, Australia and Singapore and followed for second primary cancers within the period 1943-2000. Standardized incidence ratios (SIRs) were calculated and Poisson regression analyses were done to find out the RRs related to age at, period of and time since the PFTC diagnosis. There were 118 cancer cases observed after first PFTC (SIR 1.4, 95%CI 1.1-1.6). Elevated SIRs were seen for colorectal cancer (1.7, 95%CI 1.0-2.6), for breast cancer (1.5, 95%CI 1.1-2.2), for bladder cancer (2.8, 95%CI 1.0-6.0), for lung cancer (1.8, 95% CI 0.9-3.2) and for nonlymphoid leukaemia (3.7, 95%CI 1.0-9.4). Significant risk increases were detected for colorectal cancer during the 2nd to 5th year after the first PFTC diagnosis, for breast cancer in follow-up 10+ and for nonlymphoid leukaemia during the 2nd to 10th year. The clustering of cancers of the lung and bladder in PFTC patients may suggest shared smoking aetiology. The excess of colorectal and breast cancers after PFTC may indicate a genetic aetiology.
 ...
PMID:Second primary malignancies in females with primary fallopian tube cancer. 1726 29

The t(4;11)-positive acute lymphoblastic leukemia (ALL) is a rare disease in children above the age of 1 year. We studied the clinical and biological characteristics in 32 consecutively diagnosed childhood cases (median age 10.0 years, range 1.0-17.1 years). Immunophenotyping revealed a pro-B and a pre-B stage in 24 and eight cases, respectively. IGH genes were rearranged in 84% of leukemias with a predominance of incomplete DJ(H) joints. Whereas IGK-Kde and TCRD rearrangements were rare, TCRG rearrangements were present in 50% of cases and involved mainly Vgamma11 or Vgamma9 together with a Jgamma1.3./2.3 gene segment, an unusual combination among t(4;11)-negative B-cell precursor ALL. Oligoclonality was found in about 30% as assessed by heterogeneous IGH and TCRG rearrangements. Our data are in line with transformation of a precursor cell at an early stage of B-cell development but retaining the potential to differentiate to the pre-B cell stage in vivo. Although a distinct difference between infant and older childhood cases with t(4;11) became evident, no age-related biological features were found within the childhood age group. In contrast to infants with t(4;11)-positive ALL, childhood cases had a relatively low cumulative incidence of relapse of 25% at 3.5 years with BFM-based high-risk protocols.
Leukemia 2007 Apr
PMID:Acute lymphoblastic leukemia with t(4;11) in children 1 year and older: The 'big sister' of the infant disease? 1728 54

Most cases of acute leukemia can be assigned to the myeloid, B or T lineage. In a few cases, definitive assignment cannot be achieved because blasts express antigens of more than one lineage. A subset of these, referred to as acute bilineal leukemias (aBLLs), is characterized by the presence of more than one population of blasts, each comprising a single lineage. We identified 19 cases of aBLL, including 10 mixed T and myeloid (T-My) and nine mixed B and myeloid (B-My); no mixed B and T cases were identified. Cytogenetic data were available for 16 patients. Three of seven patients with B-My had a t(9;22)(q34q11.2), two had 11q23 translocations and one had del(9). Two of nine patients with T-My had 2p13 translocations; five had other unrelated abnormalities. Of 16 patients with outcome data, only six achieved complete remission and only two remain free of disease 2.5 and 4.5 years after chemotherapy or stem cell transplantation. aBLL is a rare disease that combines B or T and myeloid blasts. Cytogenetic abnormalities of t(9;22) and 11q23 are common in, and may be restricted to, B-My cases, while T-My cases have frequent but generally non-recurring abnormalities. Both types of aBLL are associated with poor outcome.
Leukemia 2007 Nov
PMID:Acute bilineal leukemia: a rare disease with poor outcome. 1761 54

Splenic lymphoma with circulating villous lymphocytes (SLVL) is a special kind of lymphoproliferative disease characterized by specific clinical, haematological, histomorphological and immunophenotypic features that make it different from hairy cell leukaemia, prolymphocytic leukaemia and non-Hodgkin lymphoma. Four patients suffering from SLVL, 3 men and 1 woman, 62 years in average (range 55-67 years), are presented. All patients had anaemia and splenomegaly. One patient had huge pseudocyst of the spleen, two had mild lymph-adenopathy, while 3 patients had thrombocytopenia. The number of WBC ranged from 13-29 x 10(9)/l with lymphocytes ranging from 62-80%. Monoclonal IgM paraprotein was found in 3 patients. Immunophenotyping showed cells with features of mature B lymphocytes. Splenectomy was carried out in three patients. They all recovered and stayed symptomfree. One patient refused surgery. In our opinion SLVL is not a rare disease as it was thought; it should especially be taken into diagnostic consideration in elder patients, particularly in males with splenomegaly and lymphocytosis.
 ...
PMID:[Splenic lymphoma with circulating villous lymphocytes]. 1797 22

Mediastinal granulocytic sarcoma (GS) is a relatively rare disease. We experienced a case of acute myeloid leukemia (AML) that took a rapid turn for the worse after the resection of a mediastinal GS. A healthy 60-year-old man had been in good general health all his life, but was diagnosed with a mediastinal tumor by his family physician and was referred to our department. The patient underwent resection of the mediastinal tumor because thymoma was highly suspected. On postoperative day (POD) 3, the patient suffered a fever as well as an elevated white blood cell (WBC) count and a high C-reactive protein level. His WBC count was 77,240 at its peak on POD 9, at which point the patient was diagnosed with AML by bone marrow aspiration. The immunohistological findings showed the features of leukemia, and GS was diagnosed. Despite chemotherapy, the patient died on POD 28 as a result of rapid disease progression.
 ...
PMID:Resection of mediastinal granulocytic sarcoma triggered the rapid progression of acute myeloid leukemia. 1857 99

Phlegmonous gastritis is an uncommon local or diffuse bacterial infection of the stomach wall. It is an extremely rare disease with a fulminating course and a high mortality rate. A majority of cases are diagnosed only postmortem, and early diagnosis is crucial for survival. This used to be common in the preantibiotic era; a resurgence of cases has occurred of late due to the spread of acquired immunodeficiency syndrome. There are varying local and systemic associations like gastric ulcer, gastric carcinoma, post-therapeutic endoscopy, postsurgery, human immunodeficiency virus infection, malnutrition, Kaposi's sarcoma, myeloma, leukemia, Sjogren's syndrome, and glucocorticoid use. We report a case of phlegmonous gastritis in a 70-year-old lady associated with gastric lymphoma. She succumbed to death on the fifth day of hospitalization despite broad-spectrum antibiotic therapy. She could not be operated upon due to the onset of multiorgan dysfunction syndrome and multiple comorbidities. To our knowledge, gastric lymphoma presenting as phlegmonous gastritis has not been reported in published English literature.
 ...
PMID:Gastric lymphoma presenting as phlegmonous gastritis. 1906 19

CD4+CD56+ haematodermic neoplasms (HDN) constitute a rare disease characterized by aggressive clinical behaviour and a poor prognosis. Tumour cells from HDN are leukaemic counterparts of plasmacytoid dendritic cells (pDCs). Despite increased knowledge of the ontogenetic origin of these tumours, the genetic causes and oncogenic signalling events involved in malignant transformation are still unknown. To delineate novel candidate regions and disease-related genes, we studied nine typical CD4+CD56+ HDN cases using genome-wide high-resolution array comparative genomic hybridization (CGH). Genomic imbalances, which were predominantly losses, were frequently detected. Gross genomic losses or gains involving an entire chromosome were observed in eight cases. The most frequent imbalances were deletions of chromosome 9, chromosome 13 and partial losses affecting 17p or 12p. Combinations of deletions of tumour suppressor genes (TSG), namely RB1, CDKN1B (p27), CDKN2A, (p16(ink4a), p14(arf)) or TP53 (p53), were observed in all cases. These results indicate that deletion events altering G1/S regulation are crucial for HDN oncogenesis. Furthermore, in addition to frequent sporadic gene losses, in one case we observed a 8q24 interstitial deletion that brought MYC closer to miR-30b/miR-30d, which may be related to their deregulation. Taken together, these results indicate that in addition to frequent G1/S checkpoint alterations, various genetic events could contribute to the chemoresistance of the tumour.
Leukemia 2009 Apr
PMID:Recurrent genomic aberrations combined with deletions of various tumour suppressor genes may deregulate the G1/S transition in CD4+CD56+ haematodermic neoplasms and contribute to the aggressiveness of the disease. 1915 33

Human acute leukemias (AL) are classified as myeloid or lymphoid according to cytomorphology and the expression of leukocyte differentiation antigens/CD-markers. However, in the minority of cases leukemic cells express markers of more than one lineage, which has led to the introduction of a new subgroup of acute leukemias termed mixed or biphenotypic acute leukemias (BAL). In an effort to distinguish between BAL and those AL with aberrant expression of markers of other lineage, the European Group for the Immunological Characterization of Acute Leukemias (EGIL) has proposed a scoring system in which CD-markers are assigned a score of 0.5, 1.0 or 2.0, depending on the specificity of a particular antigen for myeloid, B- and/or T-lymphoid lineage, respectively. The new WHO classification of hematologic tumors has adopted the EGIL criteria for BAL and introduced a new group of AL termed 'AL of ambiguous lineage'. In addition to BAL in which a single cell population expresses both myeloid and lymphoid differentiation markers, this new group of leukemias also comprises cases that present with two separate blast populations (acute bilineal leukemia, aBLL). In general, BAL accounts for less than 5% of all AL cases, whereas aBLL is a rare disease constituting 1%-2% of AL cases that contains B- or T-lymphoid along with myeloid blasts. Chromosome abnormalities are frequent in both entities with a relatively high incidence of Philadelphia chromosome and rearrangements involving 11q23, especially in cases with B- and myeloid involvement. Other biological features include CD34 expression and multi-drug resistance P-glycoprotein overexpression. The prognosis of BAL and aBLL is unfavorable, with poor prognostic factors being age, high WBC and the presence of Philadelphia chromosome. Unfortunately, optimal therapy is not known, although regimens designed for acute lymphoblastic leukemia may result in a better response rate. Collaborative studies are needed for better understanding of the biology of these entities and establishment of standard therapeutic protocols.
 ...
PMID:[Biphenotypic and bilineal acute leukemias]. 1920 64

T cell large granular lymphocyte leukemia (T-LGL) is a disease characterized by clonal expansion of cytotoxic T cells (CTLs). It generally follows an indolent course and is notable for an association with chronic inflammation, neutropenia and rheumatoid arthritis (RA). We present herein a case of a patient with rheumatoid arthritis (RA), neutropenia, large granular lymphocytosis, and an expanded clonal population of peripheral blood CD3(+)CD8(+)TCRalphabeta CTLs, consistent with the diagnosis of T-LGL. T-LGL is part of a spectrum of large granular lymphocytic (LGL) disorders, which includes the more common indolent variety of this disease (as illustrated by the case herein), an aggressive but rare form of this leukemia, natural killer (NK) cell LGL leukemia, Felty's syndrome (FS), and chronic large granular lymphocytosis. T-LGL appears to be a relatively rare disease, but the true prevalence is not known. FS occurs in less than 1% of patients with RA and is typically defined by the triad of destructive arthritis, neutropenia, and variable splenomegaly. A subset of patients with FS will demonstrate polyclonal expansion of LGLs, implying a relationship between proliferation of LGLs and the mechanisms of neutropenia. Thus, T-LGL leukemia and FS with LGL expansion in the setting of RA is classically distinguished by the clonality of the CTL population, with monoclonality in T-LGL and polyclonality in FS. Despite this difference, T-LGL and FS are often similar in their clinical and biological behavior. Both may respond to immunosuppressive therapy, and pursue a smoldering course typical of a chronic inflammatory disease.
 ...
PMID:T cell large granular lymphocyte leukemia associated with rheumatoid arthritis and neutropenia. 1939 80


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>