Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0079731 (B-cell lymphoma)
 16,671 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Deregulated function of members of the POK (POZ and Kruppel) family of transcriptional repressors, such as promyelocytic leukemia zinc finger (PLZF) and B-cell lymphoma 6 (BCL-6), plays a critical role in the pathogenesis of acute promyelocytic leukemia (APL) and non-Hodgkin's lymphoma, respectively. PLZP, also known as TZFP, FAZF, or ROG, is a novel POK protein that displays strong homology with PLZF and has been implicated in the pathogenesis of the cancer-predisposing syndrome, Fanconi's anemia, and of APL, in view of its ability to heterodimerize with the FANC-C and PLZF proteins, respectively. Here we report the generation and characterization of mice in which we have specifically inactivated the PLZP gene through in-frame insertion of a lacZ reporter and without perturbing the expression of the neighboring MLL2 gene. We show that PLZP-deficient mice display defects in cell cycle control and cytokine production in the T-cell compartment. Importantly, PLZP inactivation perturbs the homeostasis of the hematopoietic stem and/or progenitor cell. On the basis of our data, a deregulation of PLZP function in Fanconi's anemia and APL may affect the biology of the hematopoietic stem cell, in turn contributing to the pathogenesis of these disorders.
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PMID:Disruption of PLZP in mice leads to increased T-lymphocyte proliferation, cytokine production, and altered hematopoietic stem cell homeostasis. 1554 53

We report the case of a 16-year-old female patient with a known history of coeliac disease, who presented with the complaints of diarrhea, vomiting and generalized body weakness. On examination, she was found to have dehydration, decreased power in all her limbs, cervical lymphadenopathy and hepatosplenomegaly. Investigations showed severe hypokalemia, hyponatremia, hypomagnesemia, hypoglycemia and mildly enlarged kidneys on ultrasonography. Biopsy of the duodenum confirmed the flare up of coeliac disease, while cervical lymph node biopsy was positive for atypical lymphoid infiltrate and a morphology suggestive of non-Hodgkin's lymphoma. The immune profile performed on this sample confirmed the presence of activated/non-germinal center type of diffuse large B cell lymphoma (DLBCL), which was morphologically aggressive in type. The bone marrow biopsy was hypocellular and was negative for any infiltration. The patient was suspected to have developed infiltration of one or both kidneys leading to a rare presentation of Fanconi's syndrome. She was given first dose of rituximab on the 14th day of her admission. Unfortunately, she developed cardiopulmonary arrest and expired on the next day. We recommend screening for a possible renal involvement in patients with DLBCL and in patients with unusually deranged serum electrolytes as seen in Fanconi's syndrome. Renal biopsy is considered the gold standard modality for diagnosis and if possible, an earlier sample in a patient with newly developed acute kidney injury can save future complications.
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PMID:Renal Infiltration by Diffuse Large B-Cell Lymphoma as a Rare Cause of Fanconi's Syndrome: A Case Report. 2807 Apr 73

Proximal tubules are a target for paraproteinemic diseases. Cast nephropathy, light chain deposition diseases, and amyloidosis are frequently encountered in patients with multiple myeloma. Rarely, a subset of patients develop light chain Fanconi syndrome (LCFS). LCFS has been reported with multiple myeloma, monoclonal gammopathy of renal significance (MGRS), chronic lymphocytic leukemia, Waldenstrom's macroglobulinemia and diffuse large B-cell lymphoma. No cases have been described with other hematologic malignancies. We report the first case of lambda LCFS in a patient with both acute myeloid leukemia (AML) and monoclonal gammopathy of undetermined significance (MGUS).
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PMID:Light chain Fanconi syndrome in a patient with acute myeloid leukemia and monoclonal gammopathy of undetermined significance. 2850 85

Light chain proximal tubulopathy is a rare M-proteinemia-related nephropathy. The inclusions, composed of light chains in light chain proximal tubulopathy, are generally crystalline, and most exhibit a rhombic shape. Noncrystalline structures, such as rods or needle shapes, may also be present. In our patient, one of the noncrystalline structures, fibrillary inclusions in the cytoplasm, were observed, as previously reported in only 4 patients whose primary disease was either multiple myeloma or monoclonal gammopathy of renal significance. This is the first report involving lymphoma. Early diagnosis of light chain proximal tubulopathy is important because those who undergo chemotherapy have an improved kidney prognosis. However, in cases of kidney involvement with blood disorders, thrombocytopenia is often present. Therefore, in our case, open kidney biopsy was selected. Noncrystalline light chain proximal tubulopathy is believed to be less likely to cause Fanconi syndrome. However, Fanconi syndrome was observed in 3 of the 4 patients with fibrillary inclusions. In our case, hypouricemia was improved by chemotherapy, suggesting that the patient presented with Fanconi syndrome. Noncrystalline light chain proximal tubulopathy with fibrillary inclusions may cause Fanconi syndrome, similar to crystalline light chain proximal tubulopathy. We report a case of light chain proximal tubulopathy with fibrillary inclusions complicated by low-grade B-cell lymphoma in which early treatment was successful.
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PMID:Proximal Tubulopathy With Fibrillary Inclusions: A Rare Manifestation of Lymphoma-Associated Monoclonal Gammopathy of Renal Significance (MGRS). 3273 20