Familial Waldenstrom macroglobulinemia: report of 6 cases and review of literature / 白血病·淋巴瘤

Objective:To investigate the familial inheritances, clinical features, treatments and outcomes of familial Waldenstrom macroglobulinemia (WM) patients.Methods:The clinical manifestations, laboratory examinations, diagnosis and treatments, and follow-up data of 6 familial WM patients who were admitted to Yancheng No.1 People's Hospital from June 2002 to July 2019 were retrospectively analyzed, and the literature was reviewed.Results:Among 6 WM patients, 4 patients had dizziness and fatigue at the onset, 1 patient had recurrent low-grade fever and abnormal sweating as the first manifestations, 1 patient was hospitalized due to pulmonary infection, and WM was found later. Two brothers of the patients were diagnosed with WM, another 2 brothers of the patients had IgM-type monoclonal gammopathy of undetermined significance (MGUS) during the physical examination. All the 6 patients were middle-aged/elderly men, with a median age of 63 years old (51-70 years old). The median follow-up time were 71.5 months (4-217 months), and by the end of the follow-up (June 2020), 2 cases died of pulmonary infection, and 1 of them developed acute myeloid leukemia; the other 4 cases were in regular chemotherapy. Two IgM-MGUS patients were followed up without symptoms.Conclusions:WM patients have familial aggregation, and their clinical manifestations are highly heterogeneous. Patients with family history may have poor prognosis. It is necessary to strengthen the awareness of WM and family history screening.

Detection of 11q23 deletion and trisomy 12 in chronic lymphocytic leukemia by interphase fluorescence in situ hybridization / 中国医师杂志

Objective To investigate the incidence of trisomy 12(+12) and 11 q23 deletion [ del ( 11q23) ] in chronic lymphocyticleukemia (CLL). Methods Fluorescein labeled DNA probe 12 and sequence specific probe ATM for 11q23 were used to perform inter-phase fluorescence in situ hybridization (I-FISH) assays in 30 patients with CLL. The results were compared with that of conventional cyto-genetic (CC) examination. Results With CC examination , only 4 cases (13.3%) were found to have chromosomal abnormalities, whereaswith I-FISH assay ,8 cases (26.7%) were found to have genomic aberrations, including trisomy 12 in 5 cases , deletion of 11q23 in 3 ca-sea. Conclusion I-FISH is a useful method for detection of genomie aberration in CLL, the significance of trisomy 12 and del (11q23) inpredicting the prognosis of B-CLL need to be investigated further.