The Sapien #biobank #Hyderabad team showed up with enthusiasm at the Grace Cancer Foundation fundraising event. Our team, along with family and friends, participated in the walk/run with full josh and walking shoes on. The well-organized event made it even more enjoyable.
The impact of two driver mutations of RET gene, V804M/L and S891A, on Thyroid cancer was described recently by Pichardo et al in JAMA Otolaryngology, 2023. In a population screening, 75 people were identified to have 2 Pathogenic or Likely Pathogenic (P/LP) germline variants of the RET gene. 20 out of these 75 patients chose to undergo prophylactic thyroidectomy even though they did not have any symptoms of cancer. After surgery, pathological analysis of their tissue detected the growth of medullary or papillary thyroid cancer (PTC) in 12 and 2 patients respectively, i.e., 70% of patients with these 2 mutations had been harboring cancer unknowingly!
We examined the presence of these 2 RET variants in Sapien’s 61 Indian thyroid cancer samples profiled in the OncoMineDx panel by ThermoFisher. P/LP mutations were seen in 4 cases, all below the age of 40. Three cases were PTCs and 1 Follicular, with an overall percentage of 6%. The variants detected were V804M/L (3 cases) and C618Y (1 case, Follicular). No case of S891A mutation was detected.
We also checked for RET mutations in our genetically profiled lung cancers (103 cases) where 28 cases had SNVs with 5 cases of V804M, and 1 case had a fusion. No case of S891A was observed. Similarly, among 449 breast cancers, 280 CRCs, 47 gliomas and few cases each of endometrium, urinary bladder and prostate cancers that have been genetically profiled, many cases of V804M/L and other P/LP RET mutations were observed but none of S891A.
Delighted to be a part of 8th Annual BGCI #conference held at the #University of Hyderabad from July 7th to 9th, 2023 where Rakesh Sharma, PhD and Madhuri R presented posters titled “Molecular landscape of #lung adenocarcinoma in India for personalizing therapy” and “Driver gene alterations in EGFR and IDH1 are mutually exclusive in Indian Gliomas”.
Jugnu Jain and Kalpana Kannabiran were invited by Dr Q. Annie Hasan to chair the session on “Psychosocial #ethical and legal issues in #genetics and #genomics ” including panelists Dhavendra kumar Mahati Chittem Saveetha Meganathan, Kelly Ormond and Peter Abad.
Reena Trivedi Vaishnavi Suresh helped put the panel together.
It was an enriching experience, filled with insightful presentations and discussions.
Sapien is surveying different #tumor types in its #biobank for mismatch repair-deficiency (MMR-D), also called microsatellite instability (MSi-High). This is because #colorectalcancer #patients with MMR-D do not respond well to standard #chemotherapy but do respond to immune checkpoint inhibitors or ICI. To see which other #cancers may benefit from immune checkpoint inhibitors such as #PD1, we tested 500 curated cases of Endometrial, H&N, Kidney, Liver, Gastric and Thyroid cancers and compared them to 165 colorectal cancers by IHC.
We observe that H&N, Liver and Thyroid cancer have low MMR-D. However, Endometrial cancers have 4-5 times higher MMR-D as compared to CRC; Stomach and Renal cancers also have 5-6% MMR-D cases. Our data suggests that immune checkpoint inhibitors may greatly improve the response rate and survival of Endometrial, Stomach and Kidney cancers in addition to CRC.
Our paper on first ever reported establishment of a cell culture from a rare brain tumor (DIG glioma), is published in Frontiers in Pharmacology journal, with Impact factor of 4.5. Such primary cultures are very useful for drugdevelopment and phenotypic screening.
Kidney cancer most often spreads to lungs and bones, but it can also spread to brain, liver, and other organs. As it has no symptoms early on, it can spread before you even know you have it. Smoking tobacco doubles the risk of developing kidney cancer. Prevention of metastatic kidney cancer can be done by quitting smoking, maintaining a healthy body weight & eating a diet high in fruits & vegetables & low in fat. If cancer has not spread far, surgery may be a cure. If it has spread to other organs, then treatment like targeted therapy and Immunotherapy will be recommended.
Kidney cancer is most often treated with Surgery, Chemotherapy, Targeted therapy, Immunotherapy, Radiation therapy or combination of these treatments. Treatment options and recommendations depend on several factors, including the cell type and stage of cancer, possible side effects and the patient’s preferences and overall health. For most kidney cancers, surgery is the initial treatment. The goal of surgery is to remove the tumor while preserving normal kidney function. The type of surgery done to remove the tumor is Radical Nephrectomy & Partial Nephrectomy.
In 2014, Sapien partnered with Oncostem Diagnostics to provide our curated breast cancer FFPE blocks and RWE 5 years treatment and recurrence outcome data to enable the validation of a new test to accurately determine the risk of recurrence in early stage breast ca patients. A key goal of the test was to identify patients at low risk that could avoid chemotherapy and its side-effects, a major benefit to #cancerpatients (see Sapien referenced in this & previous papers).
https://onlinelibrary.wiley.com/doi/full/10.1002/cam4.3495
It’s gratifying to see their first test, canAssist Breast for hormone positive breast cancer patients, perform equivalent to the gold standard Oncotype Dx test, a more expensive and higher TAT for Indian patients.
Our deep collection of matched FFPE blocks and longitudinal RWE data to enable precision medicine tests has continued to grow, both in breast cancer (>10,000 cases), and in #colorectalcancer, #lungcancer, #oralcancer, #kidneycancer, #ovariancancer #glioma #liver cancers. Contact us at queries@sapienbio.com
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