Introduction : Encyclopedic Tumor Analysis (ETA) is multi-analyte, molecular and functional interrogation to identify latent vulnerabilities in solid tumors which can then be targeted in organ- and label-agnostic combination treatment regimens. Case Presentation : We describe here a case of metastatic rectal cancer in a 61-year-old male who was progressed on all prior Standard of Care (SoC) treatment modalities including surgery, chemotherapy and radiotherapy. We addressed disease recurrence via personalized therapy guided by ETA which revealed characteristic molecular heterogeneity in primary and metastatic lesions in terms of single nucleotide variations (SNVs) and gene copy number variations (CNVs). Notably, a novel TBL1XR1 (Exon1) – PIK3CA (Exon 2) gene fusion was identified in the tumor along with gene copy number gains in TERT, IGF-1R, MYC, FGFR1 and EGFR genes. Conclusion : ETA based molecular analysis with synchronous in vitro chemo-sensitivity profiling strategy helped to define de novo combinatorial therapy regimen of targeted and cytotoxic drugs which countered disease progression at each instance and led to the durable regression of primary as well as metastatic lesions.
Introduction : Cetuximab, an epidermal growth factor (EGFR) inhibitor has radio sensitizing activity for locoregionally, advanced head and neck cancer (LAHNC). The drug is either used in combination with radiotherapy or in combination with other chemotherapeutic drugs. Case Presentation : A 35-year-old male patient diagnosed with cancer of tongue atloco regional stage who had previously undergone hemiglossectomy was treated with TPF (docetaxel, cisplatin and 5-fluorouracil) as induction therapy(ICT)followed by concurrent local radiation therapy (RT) and cetuximab for 6weeks.The first recurrence appeared 4 years after the surgery, which was treated with RT along with standard treatment with cetuximab for 6weeks.Second recurrence was treated with cetuximab in combination with cisplatin and docetaxel. The patient survived for 8 years since he began his treatment. Conclusion : Cetuximab in combination with RT and other chemotherapeutic drugs can offer a longer survival in patients with both recurrent, locally advanced and metastatic squamous cell carcinoma of head and neck cancer.
Introduction : Pure gall bladder squamous cell cancer comprises less than 1% of all gallbladder malignancies and prominent, well differentiated keratinization is a key histological feature. Presentation of Case: This is a case report of an elderly male who presented with nausea and weight loss. His physical examination revealed significant hepatomegaly without jaundice. A CT scan of the abdomen revealed a large infiltrated mass in the liver with significant regional and distal enlarge lymph nodes. In comparison to a CT scan done 17 months ago - showing a normal gall bladder and liver - it was determined that this mass was likely gall bladder cancer with direct invasion into the liver. Histology via percutaneous biopsy showed pure squamous cell carcinoma, by evidence of prominent and well differentiated keratinization. He was staged as IIIb (T3N1M0) deeming the cancer unresectable with a poor prognosis. Conclusion: Gall bladder cancer remains an uncommon cancer of a variety of histological types, in which pure squamous cell dysplasia is rare. This type of cancer is more aggressive than most other histological types and as a result is rapidly progressing, with a poor prognosis.
Introduction : Ewing’s sarcoma is a tumor of primitive cells which primarily affects long bones. Extra-skeletal Ewing’s sarcoma has been rarely reported in small bowel. Its presentation can be varied but it is an extremely unlikely cause of an Ileo-Colic Intussusception as seen in present case. Case Presentation : A 32 years old male patient presented with symptoms suggestive of bowel obstruction. CT scan was suggestive of Ileo-colic intussusception. Patient underwent diagnostic laparoscopy and right hemicolectomy. Histopathology examination of specimen revealed Ewing sarcoma of colon. Conclusion : Extra-skeletal Ewing’s sarcoma is a rare entity. To the best of our knowledge this is the first reported case in English literature, of a Caecal Ewing’s sarcoma causing Intussusception. Further study of such cases may help in better understanding and establishing treatment protocol for this condition.
Introduction : Immune Checkpoint Inhibitors (ICIs) are antitumor drugs associated with a number of serious immune-related adverse events (IRAEs). ICIs enhance anti-tumor immunity, thereby energized patient's immune system to fight cancer. IRAEs may affect functions of various organs, including heart, and may lead to morbidity and, to some extent mortality. Left ventricle (LV) myocarditis with dysfunction is a known side effect of this class of drugs. However, right ventricle (RV) myocarditis and pulmonary vasculitis are an unknown entity and has not been previously reported. Here, we present the first case of IRAEs causing selective RV involvement with dysfunctions, attributed to immune checkpoint inhibitors described till date in medical literature. Presentation of Case : A 58-year male presented with history of low-grade fever and weight loss. On palpation, he had diffuse cervical lymphadenopathy. Histopathology evaluation of lymph node revealed metastatic lesions of Renal Cell Carcinoma (RCC). Conclusion : Fatal cardiovascular adverse events can occur as a side effect of ICI. The combination of RV myocarditis with progressive pulmonary hypertension is fatal. Treatment with high dose corticosteroids and immunomodulators may help in patient survival. Physicians treating patients with ICIs should be aware of their lethal cardiotoxic side effects to reduce adverse cardiac outcomes. Because the number of patients exposed to this new immune therapy is expected to increase remarkably in the near future, our study encourages further work to define guidelines for cardiovascular monitoring and management.
