Role of CGP to identify new options beyond the standard of care in recurrent cancers in progression

Dr. Sandeep Jasuja,

Professor & HOD of Medical Oncology, SMS Hospital, Jaipur

The case study on Leiomyosarcoma reveals CGP’s ability to discover potential treatment options for progressive cancers that are recurrent.

Clinical Presentation and Diagnosis

46 year old man presented with mass in the right thigh. Tru-cut biopsy was done to confirm the presence of malignancy. Histopathological evaluation revealed, high grade Leiomyosarcoma. Curative surgery was performed to improve the quality of life.

Genetic counselling revealed that the patient had a strong family history, with father and brother being affected with sarcoma. Germline+ test was advised to rule out any genetic pre-disposition.

Further, Comprehensive Genomic Profiling was suggested to explore potential targeted therapy options, since there are no standard of care options in this sub-type of tumors.

Summary of CGP of Patients Tumor Sample

This patient’s sample was processed as part of the Target Absolute Panel which is the most comprehensive molecular workup of the tumor assessing for Whole Exome and Whole Transcriptome analysis alongside PD-L1  status by IHC. Exome analysis revealed the presence of TP53 loss of function, with significant allelic burden. It has been documented in High grade sarcoma’s that the presence of TP53 mutation as a driver has poor response to Pazopanib. This patient’s PD-L1  status was surprisingly high, a rare finding in sarcomas, further indicates a potential role for immunotherapy in future if the tumor recurs.

Literature review indicated a similar case presentation in sarcomas wherein Nivolumab, had shown significant improvement in controlling the diseases progression and extending the life of the patient.

Our evidence based and mechanistic approach to assess the molecular genetic findings in this patient’s tumor has shown some important leads from the immuno-oncology space, for future management of the patient in case the tumor recurs considering a strong family history of sarcomas.