RESUMO
INTRODUCTION: Despite the impressive responses achieved with tyrosine kinase inhibitor (TKI) therapy, treatment resistance develops in 16-33% of patients of chronic myelogenous leukemia (CML). Of the BCR-ABL1 dependent mechanisms, mutations in the tyrosine kinase domain (TKD) are the commonest cause of resistance. MATERIAL AND METHODS: Allele specific oligonucleotide - polymerase chain reaction (ASO-PCR) was done for testing the six common TKD mutations, T315I, G250E, E255K, M244V, M351T, and Y253F. RESULTS AND CONCLUSION: TKD mutation study was done on 83 patients. Of these 44 (53%) were positive for one or more mutations. On analyzing specific mutations, E255K was the commonest mutation seen in 24 (29%) cases, followed by T315I in 23(28%) cases. Y253F mutation was not seen in the present study sample. In the present cohort of 83 patients, 29 (35%) cases were positive for single mutation, 12 (14%) had two mutations and 3 (4%) had three mutations.
Assuntos
Antineoplásicos , Leucemia Mielogênica Crônica BCR-ABL Positiva , Antineoplásicos/uso terapêutico , Estudos de Coortes , Resistencia a Medicamentos Antineoplásicos/genética , Proteínas de Fusão bcr-abl/genética , Proteínas de Fusão bcr-abl/uso terapêutico , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , MutaçãoAssuntos
COVID-19 , Eritema Nodoso , Herpes Zoster , Pitiríase Rósea , Vacinas contra COVID-19 , Humanos , Índia , SARS-CoV-2RESUMO
Monoclonal gammopathy of undetermined significance does not have end organ damage, but a proportion of cases manifest with renal injury when it is called monoclonal gammopathy of renal significance (MGRS). Herein, we describe a case of acute hepatitis E infection, which precipitated the development of MGRS. The patient underwent kidney biopsy for elevated creatinine with clinical suspicion of drug-induced interstitial nephritis. On light microscopy, there were periodic acid-Schiff negative-fractured casts in tubules with giant cell reaction around them. The tubular epithelial cells showed intracytoplasmic bile pigment. On direct immunofluorescence, casts showed kappa restriction. A diagnosis of bilirubin proximal tubulopathy and light chain cast nephropathy was made, and possibility of myeloma was suggested. On further evaluation, κ:λ ratio was 27, ß2 microglobulin was 8036 ng/ml, and bone marrow examination showed 5% plasma cells. There were no bony lesions, and serum calcium was 8.6 mg/dl. The present case is unique in two aspects. First, the patient developed MGRS triggered by acute hepatitis E in less than a month. Second, the MGRS lesion was manifested in the form of light chain cast nephropathy.
