Background and Aims
To determine prevalence and clinical utility of pathogenic germline variants (PGV) in gastric and esophageal cancer patients using universal genetic testing approach.
Methods
We ...undertook a prospective study of germline sequencing using an > 80 gene next-generation sequencing platform among patients with gastric and esophageal cancers receiving care at Mayo Clinic Cancer Center between April 1, 2018, and March 31, 2020. Patients were not selected based on cancer stage, family history of cancer, ethnicity, or age. Family cascade testing was offered at no cost.
Results
A total of 96 patients were evaluated. Median age was 66 years, 80.2% were male, 89.6% were white. Nearly 39% of the cohort had esophageal cancer, 35.4% gastric cancer and 26% gastroesophageal junction cancers. Approximately half (52%) of the patients had metastatic disease. Pathogenic germline variants (PGV) were detected in 15.6% (
n
= 15) patients. The prevalence of PGV was 10.8% in esophageal cancer, 17.6% in gastric cancer and 20% in gastroesophageal cancer. Eighty percent of patients with a positive result would not have been detected by screening with standard guidelines for genetic testing. Most PGV detected included genes with high and moderate penetrance related to DNA damage response including
BRCA1, BRCA2, PALB2
and
ATM
.
Conclusions
Universal multi-gene panel testing in gastric and esophageal cancers was associated with detection of heritable mutations in 15% of patients. The majority of PGV would not be detected with current screening guidelines and are related to DNA damage response.
Our purpose was to assess the outcome of in vitro fertilization and embryo transfer in tuberculous infertility and to study the factors associated with success or failure of treatment.
Ten patients ...with tuberculous infertility underwent 22 cycles of in vitro fertilization and 9 cryopreserved-thawed embryo transfers at Bourn Hall Clinic. All patients underwent endometrial assessment by ultrasonography. Four patients had preliminary hysteroscopy, endometrial biopsy, and Doppler uterine blood flow studies.
Six clinical pregnancies resulted in three live births in three patients and one current pregnancy in a fourth patient. There was one ectopic pregnancy and one twin pregnancy that aborted spontaneously at 14 weeks. The patients who had trophic endometrium achieved pregnancy at a rate of 42.9% (six of 14) (per embryo transfer) compared with 0% (none of 14) if the endometrium was atrophic.
In vitro fertilization and embryo transfer offers the only realistic treatment for tuberculous infertility. Preliminary assessment of the endometrium is helpful in assessing prognoses in these cases.
PDF
