A Large Esophageal Leiomyoma: Thoraco-Laparoscopic Enucleation or Esophagectomy and Reconstruction?

BACKGROUND Esophageal leiomyoma is a rare condition, with an estimated incidence rate of 0.4% of all esophageal neoplasms. These tumors are typically small, rarely more than 5 cm. The treatment depends on symptoms and the size and location of the tumor, with enucleation as the standard treatment of esophageal leiomyomas. Esophagectomy is performed only in very few cases, such as when the tumor is too large, there are multiple leiomyomas, there is a horseshoe shape or circumference, or the tumor is inextricably adhering to the esophageal mucosa. In such complex cases, it is often difficult to perform enucleation. However, with the risks of esophagectomy and intra-thoracic anastomosis, namely reflux, stenosis, leakage, abscess, and infection, attempting to perform enucleation for these cases should still be considered. CASE REPORT We reported a case of a large, multi-lobed, circumferential esophageal thoracoabdominal leiomyoma with successfully performed enucleation and esophageal preservation. A Dor fundoplication and Witzel jejunostomy tube were also performed. Follow-up 3 months postoperatively showed no appearance of reflux or dysphagia. The postoperative esophagogram visualized no obstruction or leakage. Histopathological results gave us concrete evidence of a leiomyoma: elongated cells with eosinophilic cytoplasm and rhomboid nuclei with uniform size. CONCLUSIONS The thoraco-laparoscopic enucleation approach is the method that should be considered first in the treatment of large, multi-lobed, circumferential esophageal leiomyomas, before contemplating esophagectomy and reconstruction.

Effects of a low-iodine diet in post-thyroidectomy thyroid cancer patients undergoing I131 therapy at the Vietnam National Cancer Hospital.

Background: I131 therapy is regarded as an "internal surgery" (i.e., a non-invasive approach involving no incision or bleeding) that supports "external surgery" (i.e., using a scalpel) in completely eradicating the root cause of thyroid cancer. Limiting iodine intake is of paramount importance in I131 therapy. I131 therapy protocols recommend that patients follow a low-iodine diet, ideally with a maximum iodine intake of 50 µg/day for two weeks before the I131 therapy. Methods: A pre-post compassion uncontrolled clinic intervention study was conducted on a group of over 70 post-thyroidectomy thyroid cancer patients with indications for I131 therapy at the Vietnam National Cancer Hospital from December 2020 to December 2022. Aim: It aimed to assess the effects of a low-iodine diet on post-thyroidectomy thyroid cancer patients with indications for I131 therapy. Results: The study found that following the intervention, the percentage of participants at risk of mild to moderate malnutrition, as assessed by the PG-SGA tool, decreased to 4.3% from 40.0% before the intervention, with a statistically significant difference of p < 0.001. There was a considerable improvement in the low calcemia level among the study participants, with 35.7% of patients experiencing hypocalcemia prior to the intervention, which reduced to 17.1% after the intervention. This difference was statistically significant (p = 0.01). The study also revealed a urinary iodine level improvement among the study participants. Before the intervention, patients' average urinary iodine level was 14.9 ± 11.3 µg/dl. Following the intervention, it reduced to 12.7 ± 3.9 µg/dl, although this difference was not statistically significant (p = 0.29). Patients' quality of life after adhering to the low-iodine diet tended to decline; however, the change in scores before and after the intervention did not show a significant difference. Conclusion: Despite its negative impact on patients' quality of life, active nutrition counseling and intervention during the low-iodine diet contributed to the substantial improvement in the hypocalcemia level and the reduced urinary iodine level among patients, which in turn could enhance the efficacy of the subsequent I131 therapy.

Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations.

Purpose: Retinoblastoma (Rb) is a rare and unique eye cancer that usually develops in the retinas of children less than 5 years old due to mutations in the RB1 gene. About 40% of affected individuals have the heritable form making genetics testing of the RB1 gene important for disease management. This study aims to identify germline mutations in RB1 in a cohort of patients with Rb from northern Vietnam. Methods: Genomic DNA was extracted from peripheral blood of 34 patients with Rb (nine unilateral and 25 bilateral cases) and their available parents. Twenty-seven exons, flanking sequences, and the promoter region of RB1 gene were screened for mutations with direct PCR sequencing. Multiplex ligation-dependent probe amplification (MLPA) was applied for patients with negative sequencing results. In the mutation-positive patients, their available parental DNA was analyzed to determine the parental origin of the mutation. Results: Germline mutations in RB1 were identified in 25 (73.53%) of 34 patients (four unilateral and 21 bilateral cases). Of these mutations, 19 were detected, including seven nonsense, six frameshift, four splice-site (one was identified in two siblings), and one missense, with Sanger sequencing. Three novel frameshift mutations were discovered in one unilateral and two bilateral patients. MLPA detected mutations in the RB1 gene in six bilateral cases, of whom five had a whole gene deletion (three familial cases) and one had a partial gene deletion (from exon 4 to exon 27) in one allele of the RB1 gene. Parental testing showed five mutations originated from the fathers and one was inherited from a mother who was mosaic for the mutation. Conclusions: This study provides a data set of germline mutations in the RB1 gene in Vietnamese patients with retinoblastoma. Screening of mutations in the RB1 gene can help to identify heritable Rb and contribute to clinical management and genetic counseling for affected families.