Abstract
Sjögren's syndrome (SS) is a chronic slowly progressive autoimmune disorder characterized by symptoms of oral and ocular dryness, exocrine dysfunction, and lymphocytic infiltration of exocrine glands. Multiple myeloma (MM) is a bone-marrow-based malignant neoplasm of plasma cells associated with serum/urine monoclonal paraproteins and lytic skeletal lesions. There have been very few reported cases of MM, who had SS as the first presentation. We report a case of a woman diagnosed with Sjögren's syndrome, who was later suspected to have multiple myeloma on serum protein electrophoresis. Fluorescence in situ hybridization (FISH) was carried out to check for deletions of loci 13q14.3, ATM, p53, and IGH (14q32) rearrangements on a bone marrow aspirate. Monosomy 13 was observed in 49% of cells, and a rearrangement at the IGH locus was seen in 42% of cells. To determine the partner chromosome associated with the IGH rearrangement, further FISH tests were set up for t(4;14)(p16;q32) followed by t(14;16)(q32;q22) on fresh slides. The test was negative for t(4;14) but positive for t(14;16) in 27% of cells. This confirmed the diagnosis of MM. We report the first case from India, having an association of Sjögren's syndrome with multiple myeloma, which showed t(14;16) and monosomy 13 by FISH analysis.
Highlights
Sjögren’s syndrome (SS) is a chronic slowly progressive autoimmune disorder characterized by symptoms of oral and ocular dryness, exocrine dysfunction and lymphocytic in ltration of exocrine glands [1]
Multiple myeloma was suspected and the patient was referred to our laboratory for cytogenetic analysis
Based on the revised international classi cation criteria for SS [18], this patient satis ed the diagnostic criteria of SS
Summary
Sjögren’s syndrome (SS) is a chronic slowly progressive autoimmune disorder characterized by symptoms of oral and ocular dryness, exocrine dysfunction and lymphocytic in ltration of exocrine glands [1]. MM is a bone-marrow-based malignant neoplasm associated with serum and/or urine monoclonal paraproteins and lytic skeletal lesions [2] It accounts for around ten percent of all hematologic malignancies [3]. There is only 1 case report from India of a patient with SS and MM [16], which was not subjected to cytogenetic analysis to check for chromosomal abnormalities present in MM. (f) A normal cell showing 2 orange and 2 green signals for chromosomes 4 and 14, respectively, using Vysis LSI IGH-FGFR3 dual colour dual fusion translocation probe. (g) A normal cell showing 2 green and 2 orange signals for chromosomes 14 and 16, respectively, using Vysis LSI IGH-MAF dual colour dual fusion translocation probe. F 1: FISH images of normal and abnormal cells using various probes. (a) A normal cell showing 2 green (G), 2 orange (O) and 2 aqua (A) signals for chromosome and loci 13q14.3 and 13q34 on chromosome 13, respectively, using Vysis CLL probe set for CEP12, 13q14.3 and 13q34. (b) A cell showing 2G1O1A signal pattern indicating monosomy using Vysis CLL probe set for CEP12, 13q14.3, and 13q34. (c) Normal cell showing 2 fusion (F) signals for IGH locus (14q32) using Vysis IGH break-apart rearrangement probe. (d) A cell showing 1G1O1F signal pattern indicating IGH rearrangement at 14q32 using Vysis IGH break-apart rearrangement probe. (e) A normal cell showing 2 green and 2 orange signals for chromosomes 11 and 17, respectively, using Vysis CLL probe set for 11q23 (ATM) and 17p13.1 (p53). (f) A normal cell showing 2 orange and 2 green signals for chromosomes 4 and 14, respectively, using Vysis LSI IGH-FGFR3 dual colour dual fusion translocation probe. (g) A normal cell showing 2 green and 2 orange signals for chromosomes 14 and 16, respectively, using Vysis LSI IGH-MAF dual colour dual fusion translocation probe. (h) A cell showing 1G1O2F signal pattern indicating IGH-MAF fusion for t(14;16) using Vysis LSI IGH-MAF dual colour dual fusion translocation probe
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