Signet Ring Cell Carcinoma of the Colon in Young Adults: A Case Report and Literature ReviewFarraj, Farida Abi;Sabbagh, Hadi;Aridi, Tarek;Fakhruddin, Najla;Farhat, Fadi
2019 Case Reports in Oncological Medicine
doi: 10.1155/2019/3092674pmid: 31612089
Colorectal cancer (CRC), one of the leading causes of cancer-related deaths, presents with challenging features related to its diagnosis and management. The incidence of CRC in the adolescent and young adult (AYA) population has increased over the past couple of decades despite the decline in the overall occurrence of CRC in the general population. Signet ring cell carcinoma is one of the rare histopathologic subtypes of CRC; however, it is more prevalent in AYA patients than in older adults and presents with unconventional histologic characteristics, a distinct clinical behavior, and a poor prognosis. We report a case of a primary signet ring cell adenocarcinoma of the ascending colon in a 19-year-old male who presented with unusual signs and symptoms and was diagnosed with stage IVA (T4a N0 M1, with peritoneal seeding). The unusual presentation and location of the tumor in this case warrant further investigation.
Liquid Biopsy Detects Relapse Five Months Earlier than Regular Clinical Follow-Up and Guides Targeted Treatment in Breast CancerCheng, Fiona Tsui-Fen;Lapke, Nina;Wu, Chin-Chu;Lu, Yen-Jung;Chen, Shu-Jen;Yu, Pei-Ning;Liu, Yen-Ting;Tan, Kien Thiam
2019 Case Reports in Oncological Medicine
doi: 10.1155/2019/6545298pmid: 31583146
Genetic alterations in circulating tumor DNA (ctDNA) are an emerging biomarker for the early detection of relapse and have the potential to guide targeted treatment. ctDNA analysis is often performed by droplet digital PCR; however, next-generation sequencing (NGS) allows multigene testing without having to access a tumor sample to identify target alterations. Here, we report the case of a stage III hormone receptor-positive breast cancer patient who remained symptomless after receiving surgery and adjuvant chemotherapy. Liquid biopsy analysis by NGS revealed the presence of a ctDNA <i>PIK3CA</i> N345K mutation five months before the detection of relapse with multiple liver metastases by regular clinical follow-up. To date, clinical implications of the <i>PIK3CA</i> N345K variant remain insufficiently investigated; however, everolimus treatment resulted in the shrinkage of tumor lesions and decreased the levels of tumor markers. Four months after treatment initiation, a second ctDNA analysis suggested a relapse, and the patient clinically progressed after five months of everolimus therapy. This case report demonstrates the value of ctDNA analysis by NGS for the early detection of relapse in breast cancer patients. The study further indicates its usefulness for the choice of targeted treatments, suggesting that the variant <i>PIK3CA</i> N345K might be associated with everolimus sensitivity.
Response of Leptomeningeal Metastases in EGFR-Mutated Non-Small-Cell Lung Cancer to Afatinib in the Absence of RadiotherapyLlinás-Quintero, Néstor;González-Hoyos, David;Yepes, Andrés;Herrera, Diego A.;Peláez-Arroyave, Sebastián;Caicedo-Zamudio, Carlos;Blanco-Daza, Erick;Cuello-López, Javier
2019 Case Reports in Oncological Medicine
doi: 10.1155/2019/1939703pmid: 31637072
Palliative radiotherapy is currently the medical standard of care for non-small-cell lung cancer (NSCLC) patients with symptomatic CNS and leptomeningeal disease. We report the case of a 62-year-old male patient with EGFR <i>mutation</i> (<i>del</i>19+) NSLC with symptomatic lymph node, bone, CNS, and leptomeningeal metastases. Taking into account on one hand the response to tyrosine kinase inhibitors (TKIs) and on the other hand the short- to medium-term side effects of radiotherapy and the lack of timely availability in our healthcare system, the patient was treated with afatinib (40 mg daily) and exhibited a rapid response with improvement of neurological symptoms. The patient presented partial response of extracranial, CNS, and leptomeningeal lesions at 3, 6, and 12 months of treatment, currently completing 16 months of progression-free survival despite presenting mild dermatological and gastrointestinal toxicities. Afatinib is an effective and safe option in patients with NSLC EGFR <i>mutation del</i>19+ with CNS and leptomeningeal compromise avoiding or delaying radiotherapy and its side effects, especially in countries where there is a lack of access to this kind of therapy.
Prolonged Treatment Response to Pembrolizumab in a Patient with Pretreated Metastatic Colon Cancer and Lynch SyndromeKeating, Matthew;Giscombe, Lisa;Tannous, Toufic;Hartshorn, Kevan
2019 Case Reports in Oncological Medicine
doi: 10.1155/2019/3847672pmid: 31565451
Pembrolizumab and other immunotherapies now play a prominent role in the treatment of metastatic colon cancer. Clinicians have achieved significant response rates even in heavily pretreated patients, particularly those with mismatched repair deficiencies. The endpoint of pembrolizumab treatment for patients who enjoy a strong response remains unclear. Herein, we present the case of a 33-year-old man with pretreated metastatic colon cancer and a prolonged treatment response of over three years to single-agent pembrolizumab even after treatment discontinuation in July 2018. Prior to pembrolizumab, he was found to have lung and liver metastases despite multiple lines of chemotherapy. With pembrolizumab, there was a persistent downtrend in CEA level and uptrend in weight. After nearly three years of pembrolizumab treatment from October 2015 through July 2018, PET scan showed no FDG-avid disease, and further treatment was placed on hold. He remains under surveillance, with CT scan in February 2019 again showing no evidence of local or metastatic disease. In patients whose treatment duration and disease course are not defined by toxicities/progressive disease but rather by sustained treatment responses, we propose that immunotherapy treatment duration be guided by close monitoring of CEA levels, weight, and clinical exams in addition to traditional imaging.
Case Reports on Metaplastic Squamous Cell Carcinoma of the Breast and Treatment DilemmaPandey, Anita;Joshi, Kishor;Moussouris, Harry;Joseph, Gardith
2019 Case Reports in Oncological Medicine
doi: 10.1155/2019/4307281pmid: 31641544
Metaplastic squamous cell carcinoma of the breast is a very rare form of breast cancer that consists of both glandular and nonglandular components mixed with epithelial and mesenchymal tissues. Worldwide, the incidence of this tumor is between 0.1 and 2%. Because of the rarity of this tumor and heterogeneous behavior of the tumor cells, it is difficult to establish the standard therapeutic approach. We report 2 cases of metaplastic squamous cell carcinoma of the breast in young patients with different responses to treatment strategies. The first case is a premenopausal female with metaplastic squamous cell carcinoma treated with surgery, chemotherapy, and radiotherapy, and the second case is perimenopausal metaplastic squamous cell carcinoma with sarcomatoid subtype and osteoid matrix production which progressed on chemotherapy and was treated with surgery and radiation.
Successful Modified Therapy in a Patient with Probable Infection-Associated Hemophagocytic LymphohistiocytosisKay, Carl L.;Rendo, Matthew J.;Gonzales, Paul;Beganovic, Sead G.;Czader, Magdalena
2019 Case Reports in Oncological Medicine
doi: 10.1155/2019/9781065pmid: 31583147
Hemophagocytic lymphohistiocytosis (HLH) is a rare, hyperinflammatory syndrome characterized by clinical signs and symptoms of extreme inflammation. In adults, HLH is typically a complication of infections, autoimmune diseases, and malignancies. While the disease is often fatal, classic management of HLH revolves around early diagnosis and initiation of protocolized therapy. We present a case of a previously healthy 56-year-old female who developed distributive shock requiring intubation, vasopressors, and continuous venovenous hemofiltration. In the setting of multiple infectious syndromes, severe cytopenias, and rising direct hyperbilirubinemia, her diagnosis of HLH was confirmed. Therapy was initiated with dexamethasone and two doses of reduced-intensity etoposide based on the patient’s clinical course. Over the next few weeks, she continued to improve on dexamethasone monotherapy and has maintained remission up to the present with complete resolution of her cytopenias and return of baseline renal function. Our case highlights the variability in the management of probable infection-associated HLH (IHLH) with a good patient outcome. We demonstrate the potential to treat IHLH with partial protocols and minimal chemotherapeutics.
Multiple Extracranial Metastases from Primary Gliosarcoma in a Patient with Two Previous Different Primary CancersCapion, T.;Hauerberg, J.;Broholm, H.;Muhic, A.
2019 Case Reports in Oncological Medicine
doi: 10.1155/2019/7849616pmid: 31565453
Gliosarcoma (GS) constitutes a minor fraction of primary glioblastoma (GBM), which is the most frequent malignant brain tumor in adults. Despite the fact that malignant gliomas are highly invasive, extracranial metastases are very rarely seen, and the mechanisms behind extracranial dissemination are still unclarified. We report a case of a 55-year-old male with a prior history of two distinct primary cancer types who, as a third independent type, developed GS with penetrating tumor growth to the skull and subcutaneous soft tissue via explosive spreading through a titanium net as well as extracranial metastases to the lumbar spine, paravertebral musculature, and most likely the right lung. The case illuminates the clinical challenge of diagnosing extracranial metastases from primary GBM and GS as these are still unexpected, especially in cases with possible competing diagnoses.
High Cervical Intrathecal Targeted Drug Delivery: A Case Report of Refractory Oropharyngeal Cancer PainMoman, Rajat N.;Rogers, Julie M.;Pittelkow, Thomas P.
2019 Case Reports in Oncological Medicine
doi: 10.1155/2019/2098921pmid: 31583144
<i>Introduction</i>. Some patients with head and neck cancers have pain refractory to aggressive multimodal therapies. Herein, we report the use of an intrathecal targeted drug delivery (TDD) system catheter tip placed at C1 for the treatment of recalcitrant oropharyngeal cancer pain. <i>Case Report</i>. A patient with recurrent metastatic squamous cell tongue cancer reported severe pain not controlled despite high-dose opioids and nonopioid adjuvants. It was elected to proceed with an intrathecal TDD system with the catheter tip placed at the C1 level. After pump placement, we were able to decrease her daily oral morphine equivalents (OME) from nearly 1000 mg to 300 mg over the course of two months while titrating her TDD from 0.3 mg/day to 0.7 mg/day of intrathecal hydromorphone. Unfortunately, her improvement was limited secondary to aggressive cancer-directed treatments likely contributing to device infection and explant. <i>Conclusions</i>. In this patient, high cervical placement of an intrathecal TDD catheter was associated with a decrease in OME. While used in clinical practice on occasion, the use of high cervical TDD placement such as this implantable C1 intrathecal TDD system for cancer-associated pain is underreported in the literature. Further studies on this intervention within this challenging population are warranted.
A Case of Essential Thrombocythemia and IgA Nephropathy with Literature Review of the ConcurrenceRahimian, Shoja;Johnson, Timothy;Herb, Ronald
2019 Case Reports in Oncological Medicine
doi: 10.1155/2019/5086963pmid: 31565452
Myeloproliferative neoplasms such as essential thrombocythemia (ET) have been associated with glomerular disease on rare instances. A case of ET associated with immunoglobulin A nephropathy (IgAN) is described in a 57-year-old man with a history of hypertension. Progressively worsening renal function was noted in the patient along with unexplained mild thrombocytosis. Pathological review of renal biopsy identified IgAN concurrently with newly diagnosed JAK2-mutated ET. The patient was started on aspirin therapy and closely monitored for his renal function. A literature review of the association of ET and renal disease revealed nine cases of ET associated with IgAN, focal segmental glomerulosclerosis, and fibrillary glomerulonephritis. Comparison of the pathological features of the renal biopsies within the cases noted mesangial proliferation as a common finding, which has been described to be potentiated by platelet-derived growth factor (PDGF). This commonality may represent a link between ET and glomerular disease which deserves further attention in future cases. Improved management of such cases depends on the recognition of the combined occurrence of ET and glomerular diseases and uncovering the shared pathogenesis between platelets and glomeruli.