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.
Introduction : Renal Cell Carcinoma (RCC) is the most common kidney-originated neoplasm, which can be aggressive with high metastatic potential. It is reported that RCC can recur or metastasize years after curative treatment. While ipsilateral adrenal metastasis is not uncommon, isolated contralateral adrenal metastasis (CAM) is extremely rare. Case Presentation : A 67-year-old Chinese man had history of Fuhrman Grade 2 right clear cell RCC (Stage T1bN0M0) with right radical nephrectomy done in 2014. Subsequently, he was diagnosed having prostatic carcinoma in 2016 with the Gleason score of 9 (4+5). On staging CT for prostate cancer, left adrenal mass was noted, measuring 1.7cm x 3.0 cm x 2.5cm (AP x W x CC). He had further undergone Positron Emission Tomography (PET) scan which showed equivocal findings of a mildly hypermetabolic nodule in the left adrenal gland. In addition, there were 2 small hypermetabolic foci in the prostate gland compatible with prostate carcinoma and hypermetabolic mediastinal lymph nodes. Thus, strategy of surveillance for adrenal tumour was adopted. He was treated with radiotherapy and thereafter androgen deprivation therapy (ADT) with intramuscular Lucrin injection. However, the surveillance CT revealed that the left adrenal nodule increased in size. In view of progressive disease despite ADT, left adrenalectomy was done in 2017. Intra-operatively, there was a well-circumscribed, encapsulated left adrenal lesion with no invasion to surrounding tissue. Histopathological examination revealed metastatic clear cell RCC. Conclusion : Solitary CAM from RCC is extremely rare which will possibly occur at a remote interval following primary radical nephrectomy. Aggressive surgery remains as the feasible treatment option improving prognosis in such patients.
Introduction: Pulmonary sarcomas are a rare, diverse group of neoplasms. Management is largely guided by limited case series. Presentation of the case: We present a case of an elderly male who presented with acute respiratory failure due to pneumothorax, confirmed on bronchoscopy to have an obstructing mass in the left mainstem bronchus. Biopsy revealed the lesion to be consistent with a sarcomatoid malignant neoplasm with osteosarcomatoid features. A PET-CT showed no evidence of extrapulmonary disease. Conclusion: There are several subtypes of pulmonary sarcoma. Pulmonary osteosarcomas carry an especially poor prognosis.
Urachal carcinoma is a rare tumor, it represents about 0.5-1% of all bladder malignancies. In the majority of cases it is an adenocarcinoma. For the treatment it is recommended for resectable tumors, a partial cystectomy with resection of the urachal ligament, the bladder dome and umbilicus. There is no standard neoadjuvant or adjuvant treatment, and the combinations of 5-fluoruracil with cisplatin are active in metastatic stage. A higher risk of relapse after surgery has been observed in some situations: positive margins, lymph node involvement, involvement of the peritoneal surface, or in the case of the umbilicus was not resected en-bloc.
Introduction :Yolk sac tumor is a rare form of a germ cell tumor (GCT).This case report describes an unusual presentation of a yolk sac tumor with pericarditis, pericardial effusionand bilateral microlithiasis (MT) in a young Vietnamese male with extragonadal GCT in the anterior mediastinum. Presentation of Case: A 23-year-old Vietnamese male with one-pack year smoking history, but no other significant past medical history presented with nonproductive cough and pleuritic chest pain for 2 weeks. Chest pain was described as sharp and localized to the right-side of his substernal area. B-symptoms were present for 1 month and included: weight loss of 10lbs, night sweats and fever.Physical exam showeddiminished breath sounds on the right side of the chest w/o accessory muscle use. CT of the chest revealed a large 14 cm round mass in the right middle lobe with possible extension to the mediastinum, moderate right pleural effusion and pericardial effusion.EKG showed a pattern consistent with pericarditis. Biopsy of the mediastinal mass was consistent with yolk sac tumor. LDH was 543, AFP 7200, and β-HCG<2.Testicular ultrasound did not find any testicular masses, but there was bilateral testicular microlithiasis. The patient was started on BEP (Bleomycin + Etoposide + Cisplatin) chemotherapy with subsequent thoracotomy and mass resection. Conclusion :Younger patients presenting with pleural effusions and pericarditis need a detailed history and physical examination in order to diagnosea yolk sac tumor.
The vast majority of prostate cancers are acinar adenocarcinomas. Histological variants of prostate cancer are rare. An unusual case of adenosquamous carcinoma (ASCC) in a 61 year old gentleman is described. The incidence is less than 1% of all prostatic carcinomas and usually occurs after previous radiation or hormonal therapy. This case is exceptionally rare as it occurred de novo with no previous radiation or hormonal therapy. Prostatic adenocarcinoma with squamous was diagnosed after a trans-perineal ultrasound guided biopsy of the prostate was performed due to an abnormal prostate felt on digital rectal examination. Staging investigations revealed no distant metastatic disease. A robotic assisted radical prostatectomy and pelvic lymphadenectomy was performed. The patient went on to have salvage radiotherapy and adjuvant chemotherapy. He was doing well 6 months post operatively with no radiological evidence of recurrence on PSMA PET scan.
Introduction: Chondrosarcomas are malignant neoplasms of cartilaginous mesenchymal. The diagnosis is based on a complete radiological examination. The treatment of choice is surgical, being the only curative option due to the resistance of the lesions to chemotherapy and radiotherapy. Case presentation : 66-year-old male patient presenting chest pain, dry cough and occasional dyspnea, diagnosed with sternal chondrosarcoma and treated with en bloc resection of the tumor mass. Conclusion: A primary chondrosarcoma of the sternum was treated with resection of the anterior costal railing, pericardium, tumor mass and partial sternectomy, en bloc. Reconstruction was performed using Marlex microporous mesh.
Introduction: Most intramedullary spinal cord tumors are low-grade gliomas and are usually characterized by slow progression. This is a case of a patient histologically diagnosed as low grade intramedullary astrocytomas but with fast growing behavior. Presentation of Case: A 67-year-old man who was diagnosed with a low-grade but-fast-growing intramedullary astrocytoma. He lost his ability to walk within 1 month after symptom onset. Preoperative spinal MRI showed an intramedullary lesion from T2 to T4. Decompression surgery was performed at the T2–T4 level and the tumor was partially removed, followed by standard radiotherapy and TMZ chemotherapy. Histological examination showed a low-grade astrocytoma (WHO grade II). However, the tumor rapidly progressed and the patient eventually developed disability in all four limbs. MRI then showed the tumor to extend from C2 to T7. The patient died of respiratory failure 17 months after his surgery. Conclusions: This case indicated that for patient with low-grade spinal cord astrocytoma, if the clinical progression does not match the pathological diagnosis，the treatment plan should be reconsidered.
Introduction : The gold standard treatment for Epidermal Growth Factor Receptor ( EGFR ) positive Non-Small Cell Lung Cancer (NSCLC)patients is represented byosimertinib, an irreversible third-generation EGFR inhibitor that has been providingimportant outcomes’ improvementscompared to chemotherapy and other target therapies; either upfront or as second line therapy, in case of EGFR T790M detection after previous tyrosine kinase inhibitors (TKI).Osimertinib is generally well tolerated. Most common side effects are diarrhea, rash, paronychia, dry skin and alsochanges in QT interval. Presentation of case series : Here we report five cases of left ventricular dysfunction duringosimertinib treatment, observed between January 2017 and August 2018. The five patients, with a general low cardiovascular risk profile, required a dose modification/discontinuation of the TKI therapy and a specific cardio-protective treatment, normally with a recovery of the systolic function. Conclusion : Both American and European compound labels highlight warnings of cardiomyopathy and changes in cardiac contractility during osimertinib treatment, recommending cardiac monitoring and dose adjustment in patients with cardiac risk factors. In spite of this, a standardized echocardiographic follow-up in the entire population is still not available and recommendations about the use of tissue Doppler echocardiography with more sophisticated indices are missing. With the expanding use of osimertinib we need better strategies to prevent or mitigate cardiovascular damage from cancer therapy in a larger multidisciplinary approach in which every issue is carefully evaluated.
Introduction: Hemophagocytosis Lymphohistiocytosis (HLH) is a syndrome of inappropriate hyperimmune response. Presentation of Case: We present a case of secondary HLH associated with systemic lupus erythematous (SLE) and liver dysfunction. Conclusion: This case report focuses on the diagnostic dilemmas with HLH and an individualized treatment approach to the patient.
Introduction: Immune checkpoint inhibitors exhibit robust antitumor activity in melanoma treatment but can induce highly toxic immunogenic effects. This case details an uncommonly severe adverse reaction to immune therapy and demonstrates the importance of identifying toxicities early to avoid adverse treatment outcomes. Presentation of Case: We present a patient who received anti-PD1 immunotherapy, nivolumab, as a second-line treatment for stage IV resected melanoma. The patient experienced several immune-related adverse effects and was diagnosed with myasthenia gravis. Despite receiving steroid, immunoglobin, and plasmapheresis treatment, the patient passed away. Conclusion: This case highlights the importance of closely monitoring and quickly addressing symptoms of nivolumab toxicity. Rapid institution of immunosuppressive therapy is not always successful.
Introduction: Esophageal cancer portends a poor prognosis due to high risk of recurrence, even following treatment with curative intent. Recurrence often occurs as distant metastasis, commonly in liver, lung, bone and brain with bone marrow metastasis being infrequently cited in medical literature. Herein we describe a case of bone marrow metastasis of an esophageal primary following resection. Case presentation: A 78 year-old male with locally advanced GEJ cancer who underwent chemotherapy followed by surgical resection with complete pathological response presented 6 weeks later with right lower quadrant pain. He was found to have hemorrhage in right perinephric space secondary to a ruptured kidney cyst with labs suggestive of DIC and hemolytic anemia. Patient was transfused multiple units of FFP, cryoprecipitate, and blood and ultimately required coil embolization of the right renal artery. The patient was discharged home after prolonged hospital course, and was found to have persistent pancytopenia with hypofibrinoginemia. Bone marrow aspirate and biopsy were performed, which revealed a necrotic marrow replaced with signet ring adenocarcinoma consistent with his esophageal primary. Patient requested hospice care and died six weeks later. Conclusion: Recurrence of esophageal cancer is common and can occur locoregionally or as distant metastasis, however bone marrow as a site of metastatic spread occurs infrequently. Esophageal cancer recurs typically within two years of resection, therefore follow up and surveillance is a vital component of management, keeping in mind that bone marrow is a possible though atypical site of recurrence.
In general, metastatic renal cell carcinoma (mRCC) is managed with systemic treatments and cytoreductive nephrectomy is recommended only when it is feasible. Historically, systemic treatment of mRCC was limited to cytokine treatment with interferon (IFN) and interleukin (IL)-2, as chemotherapy was considered to be ineffective in these patients. Bevacizumab in combination with interferon alfa is approved for treatment-nave advanced renal cell carcinoma (RCC) in both the US and Europe. Its objective response rates is 30%. We report a case of a patient who presents a complete response after a nephrectomy and bevacizumab associated to interferon alpha.
Introduction : Primary synovial sarcoma of testis is extremely rare neoplasm. We are going to describe a very rare presentation of primary synovial sarcoma originated from testis. Presentation of case : A 57year-old man presented with painless left testicular mass. Ultrasonography revealed a large testicular mass in the inguinal region; therefore, the patient underwent radical surgical excision of the tumor followed by adjuvant chemotherapy. One year after treatment, he was having a favorable life quality and no evidence of recurrence was documented. Conclusion : Testicular Synovial sarcoma is a very rare and slow growing malignancy that must be considered in the differential diagnosis of testicular mass.
Introduction :Non-Hodgkin Lymphoma (NHL) during pregnancy are very uncommon, and primary symptoms of NHL are similar to pregnancy physiologic changes. Case presentation :We report a case of NHL during pregnancy that didn’t have any peripheral lymphadenopathy, with mediastinal involvement. Chemotherapy began during pregnancy and after delivery treatment continued with chemotherapy and radiotherapy, and mother and baby were both healthy. Conclusion : Early diagnosis of NHL cause to better prognosis of disease andmaking a chance for mother to make a decision about continue pregnancy or not and about her treatments.
Introduction: Extraskeletal myxoid chondrosarcoma (EMC) is a rare tumor of cartilaginous origin, most commonly located in the extremities that usually presents as a slow growing mass in fifth to sixth decades of life. Primary genitourinary tract involvement is extremely rare; about ten cases reported so far and due to such a low incidence, therapeutic approach is very challenging Case presentation: We report 2 year follow-up of a 38-year-old man with penoscrotal EMC that has been managed by complete tumor excision. Conclusion: Wide excision seems to be the best treatment. Our patient had no signs of local recurrence or metastasis during 4 years of follow up period.
