A Multicenter Study of 239 Patients Aged Over 70 Years With Diffuse Large B-Cell Lymphoma in China.

Background: Diffuse large B-cell lymphoma (DLBCL) is the most common aggressive lymphoma subtype worldwide and occurs frequently in the elderly population. However, there are limited data on the clinical profiles of patients with DLBCL over 70 years of age. Our objective was to summarize the clinical characteristics, treatment strategies and survival outcomes of this population in China. Methods: This multicenter retrospective study was conducted in China from January 2012 to July 2020 to investigate the clinical characteristics and survival outcomes. A total of 239 patients with DLBCL aged over 70 years underwent pretreatment evaluations, treatment, and follow-up at local hospitals. The primary endpoints were the progression-free survival (PFS) and the overall survival (OS) rates at 2 years. Secondary endpoints included median PFS and OS, the estimated PFS and OS rates at 5 years, and adverse events during treatment. Results: With a median follow-up of 50 months (range, 1-102 months), the 2-year PFS and OS rates were 53.0% and 65.5%, respectively. The median PFS and OS were 42.1 and 96.4 months, respectively; and the estimated 5-year PFS and OS rates were 44.7% and 56.1%, respectively. Hematological toxicities were the most common adverse effects in this study, accounting for 90.4%; and leukopenia was the most frequently observed ≥ grade 3 event. Furthermore, we found that regimens without rituximab and chemotherapy cycles < 6 were significantly associated with worse survival. Additionally, in the 70-80-year group, reduction in chemotherapy dose was associated with a significantly shorter OS, with a 2-year OS rate of 74.4% in the full dose group, compared to 67.1% for the decreased-dose group (p = 0.044). Conclusion: Our study presents the clinical profiles and survival outcomes of elderly patients with DLBCL in China. Treatment of these patients requires careful evaluation of toxicities and benefits. To this end, a prognosis model, such as comprehensive geriatric assessment, is required in clinical practice to optimally manage elderly patients with DLBCL.

Glans metastatic extra-nodal natural killer/T-cell lymphoma, nasal-type with HDAC inhibitor as maintenance therapy: a rare case report with literature review.

Extra-nodal natural killer/T-cell lymphoma (ENKTL) is an aggressive lymphoid malignancy and advanced ENKTL is characterized by a dismal survival outcome. Distant metastasis is frequently common in advanced ENKTLs, while the glans is rarely involved. Here we report a 67-year-old Chinese male with glans metastasis ENKTL, nasal type secondary from the nasal cavity, treated with modified SMILE regimen plus glans radiotherapy and achieved a complete remission (CR). Since the poor prognosis of metastatic ENKTL and unfitness for hematological stem cell transplant (HSCT), we administered histone deacetylase (HDAC) inhibitor Chidamide as maintenance therapy, which was resulted in a progression-free survival (PFS) of 12 months. To investigate the gene alternations, the whole exon sequencing and the 446-gene panel sequencing were performed and we found the BCOR, KRAS, CDKN1B, XPO1, DOT1L genes mutations. Best to our knowledge, this is a glans metastasis ENKTL with the longest PFS and the most successful treatment.

Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses.

Polyhydramnios is sometimes associated with genetic defects. However, establishing an accurate diagnosis and pinpointing the precise genetic cause of polyhydramnios in any given case represents a major challenge because it is known to occur in association with over 200 different conditions. Whole exome sequencing (WES) is now a routine part of the clinical workup, particularly with diseases characterized by atypical manifestations and significant genetic heterogeneity. Here we describe the identification, by means of WES, of novel compound heterozygous truncating variants in the LMOD3 gene [i.e., c.1412delA (p.Lys471Serfs*18) and c.1283dupC (p.Gly429Trpfs*35)] in a Chinese family with two successive fetuses affected with polyhydramnios, thereby potentiating the prenatal diagnosis of nemaline myopathy (NM) in the proband. LMOD3 encodes leiomodin-3, which is localized to the pointed ends of thin filaments and acts as a catalyst of actin nucleation in skeletal and cardiac muscle. This is the first study to describe the prenatal and postnatal manifestations of LMOD3-related NM in the Chinese population. Of all the currently reported NM-causing LMOD3 nonsense and frameshifting variants, c.1412delA generates the shortest truncation at the C-terminal end of the protein, underscoring the critical role of the WH2 domain in LMOD3 structure and function. Survey of the prenatal phenotypes of all known LMOD3-related severe NM cases served to identify fetal edema as a novel presenting feature that may provide an early clue to facilitate prenatal diagnosis of the disease.