ABSTRACT
Many B-cell tumors have chromosomal translocations that result from failures of the immunoglobulin (Ig) gene during V(D)J recombination, somatic hypermutation (SHM), and class switch recombination (CSR). Nearly half of all multiple myeloma (MM) patients have 14q32/IGH translocations in CSR, including the five common translocations of 11q13/CCND1, 6p21/CCND3, 4p16/FGFR3, 16q23/MAF, and 20q11/MAFB. Although 14q32/IGH translocations are closely related to the biological features of MM, the most consistent and powerful prognostic factor has been reported to be the loss of all (monosomy 13/-13) or part of chromosome 13 (del(13)(q14)/13q-). Our fluorescence in situ hybridization (FISH) analysis method was designed to detect -13/13q- and 14q32/IGH rearrangements in 23 MM patients. FISH disclosed 14q32/IGH translocations in 10 of the 23 (43.5%) patients. The common translocation partners of 14q32/IGH were 11q13/CCND1 (five patients) and 16q23/MAF (four patients), followed in third place by 4p16/FGFR3 (one patient). Nine of the ten patients carrying 14q32/IGH translocations had -13/13q-. Abnormalities of chromosome 13 included -13 in seven (70%) and del(13)(q14) in two (20%). Our results suggest a significant correlation between the presence of 14q32/IGH translocations and chromosome 13 abnormalities (P = 0.0276) in MM patients.
Subject(s)
Chromosomes, Human, Pair 13/genetics , Genes, Immunoglobulin Heavy Chain/genetics , Multiple Myeloma/genetics , Translocation, Genetic/genetics , Aged , Aged, 80 and over , Cohort Studies , Female , Humans , In Situ Hybridization, Fluorescence , Male , Middle AgedSubject(s)
Anticonvulsants/administration & dosage , Primary Myelofibrosis/drug therapy , Valproic Acid/administration & dosage , Aged , Blood Cell Count , Epilepsy/blood , Epilepsy/complications , Epilepsy/prevention & control , Female , Hemorrhage/blood , Hemorrhage/drug therapy , Hemorrhage/etiology , Humans , Primary Myelofibrosis/blood , Primary Myelofibrosis/complications , Valproic Acid/bloodABSTRACT
A 16-year-old female, who was diagnosed as having non-Hodgkin lymphoma following a biopsy of a tumor of her right breast, was admitted to our hospital. The diagnosis made by the referring hospital was not reconfirmed because of the pathological findings with suspicion of sarcoma. As another tumor appeared in the contralateral breast 10 days after hospitalization, a second biopsy of the tumor was performed. Touch preparations of the tumor were positive for myeloperoxidase and naphthol AS-D chloroacetate esterase staining. The diagnosis of granulocytic sarcoma (GS) was made. No abnormalities were found in the peripheral blood and bone marrow at this time. Chromosomal examination of the bone marrow was normal. The number of copies for WT-1 mRNA was high both in the bone marrow cells and the tumor cells. The expression of WT-1 mRNA in peripheral blood was not detected. She was treated with the same protocol as for acute myelogenous leukemia and the breast tumor disappeared. The titer of WT-1 mRNA in bone marrow slightly decreased but remained high. Taken together, these findings suggest that the GS seems to be bone marrow origin and the monitoring of WT-1 mRNA may be useful for early diagnosis of any relapse.
