Para-aortic lymph node dissection in left-sided colorectal cancer: Risk factors, prognostic impact, and therapeutic value.

AIM: This study aimed to clarify risk factors, prognostic impact, and the therapeutic value of para-aortic lymph node (PALN) dissection in left-sided colorectal cancer. METHOD: One hundred and fifty-four patients who underwent primary tumor resection and PALN dissection for left-sided colorectal cancer were included. Logistic regression analysis was used to identify risk factors for PALN metastasis. Cox regression analysis was performed to identify risk factors for overall survival (OS). RESULTS: PALN metastasis was pathologically confirmed in 47 patients (30.5%). Postoperative complications occurred in 42 patients (27.3%). Pathological N stage (OR = 4.661, p = 0.034) and inferior mesenteric artery LNs metastasis (OR = 6.048, p = 0.003) remained to be independently associated with PALN metastasis, the 5-year OS rate and median survival in patients with PALN metastasis was 37.7% and 24 months. Elevated preoperative serum CA19-9 level (HR = 1.006, p = 0.007), number of positive LNs > 7 (HR = 7.263, p = 0.001), and mucinous adenocarcinoma or signet ring cell carcinoma (HR = 6.511, p = 0.001) were independently associated with OS in patients with PALN metastasis. CONCLUSION: PALN dissection in addition to primary tumor resection have acceptable postoperative complications and may be oncologically beneficial in selected left-sided colorectal cancer patients with clinically suspicious PALN metastasis.

c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder caused by survival motor neuron (SMN) protein deficiency leading the loss of motor neurons in the anterior horns of the spinal cord and brainstem. More than 95% of SMA patients are attributed to the homozygous deletion of survival motor neuron 1 (SMN1) gene, and approximately 5% are caused by compound heterozygous with a SMN1 deletion and a subtle mutation. Here, we identified a rare variant c.835-5T>G in intron 6 of SMN1 in a patient affected with type I SMA. We analyzed the functional consequences of this mutation on mRNA splicing in vitro. After transfecting pCI-SMN1, pCI-SMN2, and pCI-SMN1 c.835-5T>G minigenes into HEK293, Neuro-2a, and SHSY5Y cells, reverse transcription polymerase chain reaction (RT-PCR) was performed to compare the splicing effects of these minigenes. Finally, we found that this mutation resulted in the skipping of exon 7 in SMN1, which confirmed the genetic diagnosis of SMA.