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1.
Blood Cancer J ; 14(1): 50, 2024 Mar 18.
Article in English | MEDLINE | ID: mdl-38499538

ABSTRACT

Deeper responses are associated with improved survival in patients being treated for myeloma. However, the sensitivity of the current blood-based assays is limited. Historical studies suggested that normalisation of the serum free light chain (FLC) ratio in patients who were negative by immunofixation electrophoresis (IFE) was associated with improved outcomes. However, recently this has been called into question. Mass spectrometry (MS)-based FLC assessments may offer a superior methodology for the detection of monoclonal FLC due to greater sensitivity. To test this hypothesis, all available samples from patients who were IFE negative after treatment with carfilzomib and lenalidomide-based induction and autologous stem cell transplantation (ASCT) in the Myeloma XI trial underwent FLC-MS testing. FLC-MS response assessments from post-induction, day+100 post-ASCT and six months post-maintenance randomisation were compared to serum FLC assay results. Almost 40% of patients had discordant results and 28.7% of patients with a normal FLC ratio had residual monoclonal FLC detectable by FLC-MS. FLC-MS positivity was associated with reduced progression-free survival (PFS) but an abnormal FLC ratio was not. This study demonstrates that FLC-MS provides a superior methodology for the detection of residual monoclonal FLC with FLC-MS positivity identifying IFE-negative patients who are at higher risk of early progression.


Subject(s)
Hematopoietic Stem Cell Transplantation , Multiple Myeloma , Humans , Immunoglobulin Light Chains , Mass Spectrometry , Multiple Myeloma/diagnosis , Multiple Myeloma/therapy , Progression-Free Survival , Transplantation, Autologous , Randomized Controlled Trials as Topic
2.
Semin Hematol ; 60(2): 90-96, 2023 03.
Article in English | MEDLINE | ID: mdl-37099028

ABSTRACT

Apart from the MYD88L265P mutation, extensive information exists on the molecular mechanisms in Waldenström's Macroglobulinemia and its potential utility in the diagnosis and treatment tailoring. However, no consensus recommendations are yet available. Consensus Panel 3 (CP3) of the 11th International Workshop on Waldenström's Macroglobulinemia (IWWM-11) was tasked with reviewing the current molecular necessities and best way to access the minimum data required for a correct diagnosis and monitoring. Key recommendations from IWWM-11 CP3 included: (1) molecular studies are warranted for patients in whom therapy is going to be started; such studies should also be done in those whose bone marrow (BM) material is sampled based on clinical issues; (2) molecular studies considered essential for these situations are those that clarify the status of 6q and 17p chromosomes, and MYD88, CXCR4, and TP53 genes. These tests in other situations, and/or other tests, are considered optional; (3) independently of the use of more sensitive and/or specific techniques, the minimum requirements are allele specific polymerase chain reaction for MYD88L265P and CXCR4S338X using whole BM, and fluorescence in situ hybridization for 6q and 17p and sequencing for CXCR4 and TP53 using CD19+ enriched BM; (4) these requirements refer to all patients; therefore, sample should be sent to specialized centers.


Subject(s)
Waldenstrom Macroglobulinemia , Humans , Waldenstrom Macroglobulinemia/diagnosis , Waldenstrom Macroglobulinemia/genetics , Waldenstrom Macroglobulinemia/therapy , Myeloid Differentiation Factor 88/genetics , In Situ Hybridization, Fluorescence , Mutation
3.
Leukemia ; 32(1): 102-110, 2018 01.
Article in English | MEDLINE | ID: mdl-28584253

ABSTRACT

Robust establishment of survival in multiple myeloma (MM) and its relationship to recurrent genetic aberrations is required as outcomes are variable despite apparent similar staging. We assayed copy number alterations (CNA) and translocations in 1036 patients from the NCRI Myeloma XI trial and linked these to overall survival (OS) and progression-free survival. Through a meta-anlysis of these data with data from MRC Myeloma IX trial, totalling 1905 newly diagnosed MM patients (NDMM), we confirm the association of t(4;14), t(14;16), t(14;20), del(17p) and gain(1q21) with poor prognosis with hazard ratios (HRs) for OS of 1.60 (P=4.77 × 10-7), 1.74 (P=0.0005), 1.90 (P=0.0089), 2.10 (P=8.86 × 10-14) and 1.68 (P=2.18 × 10-14), respectively. Patients with 'double-hit' defined by co-occurrence of at least two adverse lesions have an especially poor prognosis with HRs for OS of 2.67 (P=8.13 × 10-27) for all patients and 3.19 (P=1.23 × 10-18) for intensively treated patients. Using comprehensive CNA and translocation profiling in Myeloma XI we also demonstrate a strong association between t(4;14) and BIRC2/BIRC3 deletion (P=8.7 × 10-15), including homozygous deletion. Finally, we define distinct sub-groups of hyperdiploid MM, with either gain(1q21) and CCND2 overexpression (P<0.0001) or gain(11q25) and CCND1 overexpression (P<0.0001). Profiling multiple genetic lesions can identify MM patients likely to relapse early allowing stratification of treatment.


Subject(s)
Multiple Myeloma/diagnosis , Multiple Myeloma/pathology , Adult , Aged , Aged, 80 and over , Chromosome Aberrations , Chromosome Deletion , Clinical Trials, Phase III as Topic , Disease-Free Survival , Female , Humans , Male , Middle Aged , Multiple Myeloma/genetics , Neoplasm Recurrence, Local/genetics , Neoplasm Recurrence, Local/pathology , Prognosis , Proportional Hazards Models , Translocation, Genetic/genetics , Transplantation, Autologous/methods
4.
Hematology ; 22(3): 162-167, 2017 Apr.
Article in English | MEDLINE | ID: mdl-27764999

ABSTRACT

OBJECTIVE AND IMPORTANCE: Transplantation-mediated alloimmune thrombocytopenia (TMAT) occurs when leukocytes transferred in a donor organ from a patient with immune thrombocytopenia (ITP), mount a response against recipient platelets. We present the first fatal case of TMAT following liver transplantation and review its aetiology and treatment. CLINICAL PRESENTATION: The liver donor had ITP and died from an intracranial haemorrhage. The recipient platelet count fell to 2 × 109/l on post-operative day 2. Treatment refractory thrombocytopenia resulted in pulmonary haemorrhage and death. TMAT did not occur in a kidney recipient from the same ITP donor. INTERVENTION: Extramedullary haematopoiesis was identified in the donor liver biopsy. Antibodies against platelet GPIb/IX were demonstrated in both donor and recipient. The thrombocytopenia was refractory to platelet transfusions, intravenous immunoglobulin, methylprednisolone, rituximab, romiplostim, plasmapheresis, vincristine and splenic artery embolization. On review of the literature, severe thrombocytopenia (<10 × 109/l) has started within 3 days of transplantation in all reported TMAT cases. Serious non-fatal bleeding was observed in 3/5 previously reported cases. The optimal treatment is unclear. TMAT should resolve as donor lymphocytes are eliminated but re-transplantation may be required in severe refractory cases. TMAT has been reported in recipients of a liver but not kidney or heart transplant from ITP donors, probably because of the greater burden of co-transplanted lymphoid tissue. CONCLUSION: Before using the liver of an ITP donor, the recipient's fully informed consent is required. However, the risk of TMAT from an ITP donor is currently unknown and systematic review of donor registries is needed.


Subject(s)
Liver Transplantation/adverse effects , Purpura, Thrombocytopenic, Idiopathic/etiology , Aged , Blood Coagulation , Blood Coagulation Tests , Blood Platelets/immunology , Fatal Outcome , Humans , Immunoglobulins, Intravenous/therapeutic use , Immunosuppressive Agents/therapeutic use , Isoantibodies/immunology , Liver/pathology , Male , Platelet Count , Purpura, Thrombocytopenic, Idiopathic/blood , Purpura, Thrombocytopenic, Idiopathic/diagnosis , Purpura, Thrombocytopenic, Idiopathic/therapy , Thrombelastography
5.
Blood Cancer J ; 6(12): e506, 2016 12 09.
Article in English | MEDLINE | ID: mdl-27935580

ABSTRACT

We have carried out the largest randomised trial to date of newly diagnosed myeloma patients, in which lenalidomide has been used as an induction and maintenance treatment option and here report its impact on second primary malignancy (SPM) incidence and pathology. After review, 104 SPMs were confirmed in 96 of 2732 trial patients. The cumulative incidence of SPM was 0.7% (95% confidence interval (CI) 0.4-1.0%), 2.3% (95% CI 1.6-2.7%) and 3.8% (95% CI 2.9-4.6%) at 1, 2 and 3 years, respectively. Patients receiving maintenance lenalidomide had a significantly higher SPM incidence overall (P=0.011). Age is a risk factor with the highest SPM incidence observed in transplant non-eligible patients aged >74 years receiving lenalidomide maintenance. The 3-year cumulative incidence in this group was 17.3% (95% CI 8.2-26.4%), compared with 6.5% (95% CI 0.2-12.9%) in observation only patients (P=0.049). There was a low overall incidence of haematological SPM (0.5%). The higher SPM incidence in patients receiving lenalidomide maintenance therapy, especially in advanced age, warrants ongoing monitoring although the benefit on survival is likely to outweigh risk.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Multiple Myeloma/drug therapy , Neoplasms, Second Primary/drug therapy , Thalidomide/analogs & derivatives , Adult , Aged , Aged, 80 and over , Bortezomib/administration & dosage , Disease-Free Survival , Female , Humans , Hydroxamic Acids , Kaplan-Meier Estimate , Lenalidomide , Male , Middle Aged , Multiple Myeloma/epidemiology , Multiple Myeloma/pathology , Neoplasms, Second Primary/epidemiology , Neoplasms, Second Primary/pathology , Oligopeptides/administration & dosage , Risk Factors , Thalidomide/administration & dosage , Vorinostat
6.
Clin Exp Dermatol ; 37(2): 146-8, 2012 Mar.
Article in English | MEDLINE | ID: mdl-22103549

ABSTRACT

Pyoderma gangrenosum (PG) may be associated with inflammatory disorders and haematological conditions such as monoclonal gammopathy of uncertain significance (MGUS). We report the case of a 53-year old man who had PG and MGUS. After treatment with infliximab for the PG, he developed myeloma. The course of events in this case suggests that infliximab facilitated the progression from MGUS to myeloma.


Subject(s)
Anti-Inflammatory Agents/adverse effects , Antibodies, Monoclonal/adverse effects , Hypergammaglobulinemia/complications , Immunoglobulin A , Multiple Myeloma/chemically induced , Pyoderma Gangrenosum/drug therapy , Tumor Necrosis Factor-alpha/antagonists & inhibitors , Disease Progression , Humans , Infliximab , Male , Middle Aged , Multiple Myeloma/pathology , Precancerous Conditions/pathology
7.
Dis Colon Rectum ; 54(10): 1265-70, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21904141

ABSTRACT

BACKGROUND: It is routine practice to perform colonoscopy as a follow-up after an attack of diverticulitis, with the main aim to exclude any underlying malignancy. PURPOSE: This study aimed to determine whether colonoscopy is necessary and what additional information is gained from this procedure. DESIGN: This is a study of a retrospective cohort. SETTINGS AND PATIENTS: From January 2003 to June 2009, patients in whom left-sided diverticulitis was diagnosed on CT scan were matched with colonoscopy reports within 1 year from the date of CT by the use of radiology and endoscopy databases. Patients who had colonoscopy within 1 year before the CT scan were excluded. The Western Australian Cancer Registry was cross-referenced to identify patients who subsequently received diagnoses of cancers for whom colonoscopy reports were unavailable. MAIN OUTCOME MEASURES: The main outcome measures were the number of patients in whom colorectal cancers were diagnosed and other incidental findings, eg, polyps, colitis, and stricture. RESULTS: Left-sided diverticulitis was diagnosed in 1088 patients on CT scan, whereas follow-up colonoscopy reports were available for 319 patients. Eighty-two (26%) patients had incidental findings of polyps (9 polyps >1 cm), and 9 patients (2.8%) received diagnoses of colorectal cancers on colonoscopy. After cross-referencing with the cancer registry, the overall prevalence of colorectal cancer among the cohort within 1 year of CT scan was 2.1% (23 cases). The odds of a diagnosis of colorectal cancer were 6.7 times (95% CI 2.4-18.7) in patients with an abscess reported on CT, 4 times (95% CI 1.1-14.9) in patients with local perforation, and 18 times (95% CI 5.1-63.7) in patients with fistula compared with patients with uncomplicated diverticulitis. LIMITATIONS: This study was limited by the unavailability of data for private/interstate hospitals, and the relatively small number of cancer cases reduced the statistical power of the study. CONCLUSIONS: We recommend routine colonoscopy after an attack of presumed left-sided diverticulitis in patients who have not had recent colonic luminal evaluation. The rate of occult carcinoma is substantial in this patient population, in particular, when abscess, local perforation, and fistula are observed.


Subject(s)
Colon, Descending/diagnostic imaging , Colonoscopy , Colorectal Neoplasms/diagnostic imaging , Diverticulitis, Colonic/diagnostic imaging , Abdominal Abscess/complications , Adolescent , Adult , Aged , Colorectal Neoplasms/epidemiology , Diagnosis, Differential , Diverticulitis, Colonic/complications , Female , Humans , Intestinal Fistula/complications , Intestinal Perforation/complications , Logistic Models , Male , Middle Aged , Predictive Value of Tests , Prevalence , Retrospective Studies , Tomography, X-Ray Computed , Young Adult
8.
Clin Lymphoma Myeloma Leuk ; 11(1): 176-9, 2011 Feb.
Article in English | MEDLINE | ID: mdl-21856554

ABSTRACT

Histological transformation, typically to diffuse large B-cell lymphoma (DLBCL) is reported to occur in 5%-10% of patients with WM and recent studies have highlighted a possible aetiological role for the nucleoside analogues. It is however becoming increasingly clear that histological transformation is a complex phenomenon and may include clonally unrelated disorders. In order to highlight this pathological heterogeneity we describe 5 patients with diverse histological progression events. These included EBV-associated events namely DLBCL, peripheral T-cell lymphoma and spontaneously resolving mucocutaneous ulcer. A further 2 patients demonstrated a localised plasma cell rich lesion simulating plasmacytoma and a de novo DLBCL arising in an unrelated B-cell clone. It is clear therefore that detailed pathological assessments are required in all suspected cases of transformation and that the pathological heterogeneity demonstrated by this study needs to be taken into account when potential aetiological factors are being assessed.


Subject(s)
Lymphoma, Large B-Cell, Diffuse/pathology , Lymphoma, T-Cell, Peripheral/pathology , Waldenstrom Macroglobulinemia/pathology , Aged , Aged, 80 and over , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Fatal Outcome , Female , Humans , Lymphoma, Large B-Cell, Diffuse/drug therapy , Lymphoma, Large B-Cell, Diffuse/etiology , Lymphoma, T-Cell, Peripheral/drug therapy , Lymphoma, T-Cell, Peripheral/etiology , Male , Middle Aged , Treatment Outcome , Waldenstrom Macroglobulinemia/drug therapy
12.
Am J Hematol ; 75(4): 195-9, 2004 Apr.
Article in English | MEDLINE | ID: mdl-15054808

ABSTRACT

The clinical behavior and optimal treatment of patients presenting with skin infiltration by B-cell lymphoma have not been established. To clarify this we assessed the clinical and laboratory features of 51 patients presenting with cutaneous infiltration by B-cell lymphoma. Follow-up data was available for 46 patients with a median age of 68 years (range 16-89 years) and a median follow-up of 32.5 months (range 5-123 months). Thirty-three of 51 (65%) patients had diffuse large B-cell lymphoma (DLBCL), and 15/51 (29%) had marginal zone lymphoma (MZL). The remaining 3 patients had follicular lymphoma, CLL, and post-transplant lymphoproliferative disease. Of the 33 patients with DLBCL, follow-up was available in 29; 24/29 (83%) had primary cutaneous disease, which was unifocal in 17/24 (71%). Following treatment, 8/24 (33%) of the primary cases relapsed. Of the 8 who relapsed, 7 had received local forms of treatment only. Follow-up data was available in 14/15 patients with MZL. 11/14 (79%) had primary cutaneous disease, which was unifocal in 8 (73%). Following treatment, 4 of these cases relapsed (36%); all had received local therapy only. It is evident from this study that a significant proportion ( reverse similar 20%) of patients who present with cutaneous infiltration by B-cell lymphoma have systemic disease. Staging is therefore mandatory in these patients. Approximately 1/3 patients with primary cutaneous DLBCL or MZL ultimately relapse, and relapse rates appear higher in those patients receiving local therapy only. Systemic or combined modality therapy may therefore be the most appropriate treatment at presentation. This should be assessed prospectively in randomized trials.


Subject(s)
Lymphoma, B-Cell/pathology , Lymphoma, B-Cell/therapy , Skin Neoplasms/pathology , Skin Neoplasms/therapy , Adolescent , Adult , Aged , Aged, 80 and over , Combined Modality Therapy , Disease-Free Survival , Female , Humans , Immunohistochemistry , Male , Middle Aged , Neoplasm Staging , Recurrence , Retrospective Studies , Survival Rate , Treatment Outcome
14.
Expert Opin Pharmacother ; 2(6): 945-52, 2001 Jun.
Article in English | MEDLINE | ID: mdl-11585010

ABSTRACT

The purine nucleoside analogues, either alone or in combination with other chemotherapeutic agents, are increasingly used in the treatment of patients with indolent B-cell lymphoproliferative disorders. The initial studies in Waldenström's macroglobulinaemia (WM) are very promising. Approximately 40% of patients who have received prior therapy with alkylating agents respond, while response rates of up to 90% have been documented in untreated patients. However, it is not known whether the purine analogues offer any significant advantage over alkylating agents such as chlorambucil. In this review the treatment options in WM and in particular the role of the purine analogues are discussed.


Subject(s)
Antimetabolites/therapeutic use , Purine Nucleosides/therapeutic use , Waldenstrom Macroglobulinemia/drug therapy , Alkylating Agents/therapeutic use , Chlorambucil/therapeutic use , Cladribine/therapeutic use , Clinical Trials as Topic , Drug Resistance , Drug Therapy, Combination , Guidelines as Topic , Humans , Middle Aged , Pentostatin/therapeutic use , Plasmapheresis , Quality of Life , Vidarabine/analogs & derivatives , Vidarabine/therapeutic use , Waldenstrom Macroglobulinemia/pathology
15.
Am J Clin Pathol ; 116(3): 420-8, 2001 Sep.
Article in English | MEDLINE | ID: mdl-11554171

ABSTRACT

To establish whether a combination of morphologic and immunophenotypic criteria could be developed to more precisely define Waldenström macroglobulinemia (WM) and prognostic factors, we retrospectively assessed the clinical and laboratory features of 111 cases of WM. Bone marrow infiltration by small lymphocytes was documented in each case; and diffuse, interstitial, nodular, and paratrabecular patterns of infiltration were documented in 58%, 32%, 6%, and 4% of cases, respectively. Ninety percent were characterized by a surface immunoglobulin-positive, CD19+CD20+CD5-CD10-CD23- immunophenotype. The median overall survival from diagnosis was 60 months; univariate analysis revealed the following adverse prognostic factors: older than 60 years, performance status more than 1, platelet count less than 100 x 10(3)/microL (< 100 x 10(9)/L), pancytopenia, and diffuse bone marrow infiltration. Associated median survival was 40, 38, 46, 28, and 59 months, respectively. Multivariate analysis revealed age, performance status, and platelet count as prognostically significant, but stratification of patients according to the International Prognostic Index had limited value. We suggest defining WM by the following criteria: IgM monoclonal gammopathy; bone marrow infiltration by small lymphocytes, plasmacytoid cells, and plasma cells in a diffuse, interstitial, or nodular pattern; and a surface immunoglobulin-positive, CD19+CD20+CD5-CD10-CD23- immunophenotype.


Subject(s)
Waldenstrom Macroglobulinemia/diagnosis , Adult , Aged , Aged, 80 and over , Antigens, CD/analysis , Bone Marrow/immunology , Bone Marrow/pathology , Female , Flow Cytometry , Humans , Immunophenotyping , Male , Middle Aged , Prognosis , Survival Rate , Waldenstrom Macroglobulinemia/immunology , Waldenstrom Macroglobulinemia/mortality
16.
Am J Hematol ; 66(2): 116-9, 2001 Feb.
Article in English | MEDLINE | ID: mdl-11421289

ABSTRACT

Autoimmune phenomena are well-recognised complications of Waldenström's macroglobulinemia (WM) and IgM monoclonal gammopathy. Peripheral neuropathy and cold agglutinin hemolytic anemia are the most common reported and occur in 5-10% of patients. Autoimmune thrombocytopenia has been rarely reported in WM and its incidence is not known. In this study we report the case of a 67-year-old man who presented with autoimmune thrombocytopenia who was subsequently found to have WM. Laboratory investigation demonstrated that platelet-associated IgM (PAIgM) but not PAIgG was clearly elevated compared to normal controls. In addition the patient's serum reacted strongly with a panel of donor platelets analysed with an indirect platelet immunofluorescence assay utilising an anti-IgM secondary antibody. Glycoprotein specificity could not however be demonstrated by ELISA techniques for platelet glycoproteins IIbIIIa, IaIIa, IbIXa, and IV. We also reviewed the case records of 104 additional cases of WM diagnosed at our institution between 5/93 and 5/99. Three further cases with clinically significant autoimmune thrombocytopenia were identified. The overall incidence of autoimmune thrombocytopenia (4/105, 3.8%) in this cohort of patients was similar to the incidence of peripheral neuropathy (7/105, 6.7%) and cold agglutinins (3/105, 2.9%).


Subject(s)
Purpura, Thrombocytopenic, Idiopathic/etiology , Waldenstrom Macroglobulinemia/complications , Aged , Autoantibodies/metabolism , Blood Platelets/immunology , Enzyme-Linked Immunosorbent Assay , Flow Cytometry , Humans , Immunoglobulin M/metabolism , Male , Purpura, Thrombocytopenic, Idiopathic/blood , Retrospective Studies , Waldenstrom Macroglobulinemia/blood
17.
Br J Haematol ; 112(3): 814-9, 2001 Mar.
Article in English | MEDLINE | ID: mdl-11260088

ABSTRACT

Initial studies with high-dose therapy (HDT) in myeloma suggest some beneficial effects of attaining a complete response (CR); however, the effect on survival is difficult to assess owing to inconsistencies in the definition of response between studies. We have analysed 96 newly diagnosed patients aged less than 65 years who received HDT and assessed the effect of response on survival using electrophoresis, immunofixation and fluorescent IgH polymerase chain reaction (PCR) to define CR. Patients received induction chemotherapy with C-VAMP (adriamycin, vincristine, methylprednisolone, cyclophosphamide) followed by melphalan 200 mg/m2 and reinfusion of peripheral blood stem cells. There was a high response to C-VAMP [CR = 24%, partial response (PR) = 64%], with all but one patient improving the depth of response after HDT (CR = 69%, PR = 31%). The progression-free survival (PFS) and overall survival (OS) were excellent at a median of 46.4 months and 72+ months. There was a trend towards an improved PFS in patients with an immunofixation-negative CR compared with patients with a PR (49.4 months, 41.14 months; P = 0.26). This was not evident when electrophoresis was used to define CR. The method used to define CR did not impact on the overall survival and fluorescent IgH PCR failed to add any additional prognostic information. This study supports the widespread use of the European Bone Marrow Transplantation group (EBMT) response criteria and suggests that immunofixation should be performed on all patients who become electrophoresis negative.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Cyclophosphamide/therapeutic use , Doxorubicin/therapeutic use , Hematopoietic Stem Cell Transplantation , Melphalan/therapeutic use , Methylprednisolone/therapeutic use , Multiple Myeloma/therapy , Transplantation Conditioning/methods , Vincristine/therapeutic use , Adult , Aged , Bence Jones Protein/urine , Combined Modality Therapy , Disease-Free Survival , Electrophoresis , Female , Follow-Up Studies , Humans , Male , Middle Aged , Multiple Myeloma/diagnosis , Multiple Myeloma/mortality , Multivariate Analysis , Neoplasm, Residual/diagnosis , Survival Rate , Transplantation, Autologous
18.
Br J Haematol ; 112(2): 388-91, 2001 Feb.
Article in English | MEDLINE | ID: mdl-11167836

ABSTRACT

The majority of patients with multiple myeloma have translocations involving the immunoglobulin heavy chain switch regions on chromosome 14q32 and a promiscuous range of partner chromosomes. We describe a patient with an insertion of 132 bp of chromosome 22q12 sequence into the 5' region flanking S(mu) on chromosome 14q32. The 132 bp region from chromosome 22q12 contains the whole of exon 3 from a novel gene of unknown function in man. The significance of such insertional events remains unclear. The description of insertional events occurring as a result of abnormal switch recombination suggests that, in myeloma, dysregulation of oncogenes may occur by a mechanism other than chromosomal translocation.


Subject(s)
Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 22 , Genes, Immunoglobulin , Multiple Myeloma/genetics , Mutagenesis, Insertional , Translocation, Genetic , Base Sequence , DNA Primers/genetics , Humans , Immunoglobulin Switch Region , Molecular Sequence Data , Polymerase Chain Reaction/methods
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