Adenocarcinoma of Mullerian Origin Found Through an Elective Inguinal Hernia Resection: A Case Report.

We report an asymptomatic 59-year-old female undergoing an elective umbilical hernia excision who was found to have an ovarian adenocarcinoma within the excised hernia. Patients are rarely diagnosed with cancer after an umbilical hernia excision. An excised hernia is rarely the means for an initial diagnosis of cancer. We describe a case of an ovarian carcinoma incidentally found through an umbilical hernia excision with consequential treatment with neoadjuvant platinum-based chemotherapy followed by debulking surgery with a total hysterectomy with bilateral salpingo-oophorectomy with a transoperative pathology report of a high-grade serous carcinoma located in the left fimbrial frond surrounded by a background of serous tubal intraepithelial carcinomas. This case demonstrates the need to perform histological examinations of all excised hernias, even in asymptomatic patients, as malignancy can be found inside a hernia, and it emphasizes the importance of considering adenocarcinomas of Mullerian origin in the differential diagnosis of a malignancy found in a hernia in an asymptomatic female patient.

Unusual Presentation of B-Cell Chronic Lymphocytic Leukemia Accompanied by Pure Red Cell Aplasia: Case Report.

Introduction: Pure red cell aplasia (PRCA) is a rare bone marrow failure characterized by normocytic anemia and severe reticulocytopenia. Case Presentation: We describe the case of a 38-year-old female who presented with severe anemia. Further investigation revealed the etiology of anemia to be PRCA. She was subsequently diagnosed with chronic lymphocytic leukemia (CLL) B-cell type on bone marrow biopsy. The patient refused blood transfusion support. She failed to improve and expired despite treatment with rituximab and steroids. Conclusion: Our case is an unusual presentation of PRCA that led to the diagnosis of CLL. PRCA is an extremely rare cause of anemia in CLL, occurring in around 1% of patients. The pathogenesis is thought to be immune mediated. Treatment of PRCA in CLL involves immunosuppressive therapy with steroids, cyclosporine, and rituximab, yet it is usually refractory in most cases.

Intestinal Reactive Amyloid A (AA) Amyloidosis in a Patient With Multiple Myeloma: A Case Report and Literature Review.

Amyloidosis is a rare group of disorders characterized by the extracellular deposition of misfolded protein aggregates that interfere with the function of the tissue affected. In some patients, the presenting symptom of monoclonal gammopathies, such as multiple myeloma, can be a gastrointestinal bleed with a further report of amyloidosis in gastrointestinal samples. In all the cases the pathology report is read as AL (light chain) amyloidosis. We present a case of a 57-year-old male patient with no medical history who debuted with gastrointestinal bleeding. A colonoscopy revealed a colonic ulcer with a pathologic diagnosis of amyloid A (AA) amyloidosis. Further investigation led to the finding of multiple myeloma (MM) with no evidence of systemic amyloidosis. Although there is little evidence in the literature of the association or even causative relationship between multiple myeloma and AA amyloidosis, our case highlights the importance of searching for an underlying monoclonal gammopathy like MM in a patient with a confirmed diagnosis of AA amyloidosis.

Primary Malignant Melanoma of the Esophagus in a 76-Year-Old Female.

Mucosal melanomas represent about 1% of all melanoma cases. Primary malignant melanoma of the esophagus (PMME) is a rare and deadly condition, with only about 339 cases reported in the literature. Esophageal melanoma usually presents with progressively worsening dysphagia, and patients often present late in the disease course. Esophageal melanoma can be treated with surgical resection, chemotherapy, targeted therapy, or immunotherapy depending on the stage and tumor mutations. However, due to the rarity of the disease, no trials have been performed to deliver a gold standard of treatment. We present the case of a 76-year-old female who was diagnosed with metastatic primary malignant melanoma of the esophagus and underwent treatment with nivolumab, a PD-1 receptor antagonist.

A Case of Primary Mediastinal Seminoma Associated With Testicular Microlithiasis and Liver Injury.

Mediastinal seminomas are rare neoplasms that can be found incidentally in asymptomatic patients. However, a few cases may present in the emergency room with mild to severe respiratory and/or cardiovascular symptoms. This can occur when the tumor grows large enough to cause compression and obstruction of the various structures present in the thorax. Here we present a case of a large medium mediastinal seminoma that grew to the extent of causing pulmonary artery compression which led to chronic passive backflow through the hepatic veins and hepatic congestion. This case was remarkable as well for the presence of testicular microlithiasis, a rare feature with unknown significance to date.

Secondary Hemophagocytic Lymphohistiocytosis in a Young Hispanic Adult.

Hemophagocytic lymphohistiocytosis (HLH) is a disease caused by a severe immune system reaction that involves an overwhelming inflammatory response with overproduction of cytokines and hemophagocytosis. HLH is classified as primary HLH or familial HLH (PHLH or FHLH) and secondary HLH. PHLH is due to mutations in several genes that regulate immune cells, while secondary HLH is triggered by a severe illness (viral infections or malignancies) that induce an excessive immune response that is difficult to control. We present a case of a young Hispanic adult female with a medical history of diabetes mellitus type 1 and hepatitis E that was diagnosed with HLH secondary to lymphoma caused by Epstein Barr virus infection. The patient was started on broad-spectrum antibiotics and steroid therapy; however, the patient succumbed to the disease. HLH is associated with high mortality, mainly because it is not a very common entity and patients usually present critically ill and deteriorate very fast. Immunosuppression and treatment of the underlying disorder is the target of the treatment of HLH, however, the prognosis remains poor.

A Fatal Case of Large Cell Neuroendocrine Lung Cancer Metastatic to the Brain: A Case Report.

Large cell neuroendocrine carcinoma (LCNEC) is part of lung neuroendocrine tumors. LCNEC represents an extremely rare entity with aggressive behavior and poor prognosis. Primary surgery is the mainstream of treatment, although it is rarely amenable due to local or systemic tumor metastasis at the time of the diagnosis. We present a case report of a female patient diagnosed with large cell neuroendocrine lung cancer metastatic to the brain. Noting the low incidence of the disease, the lack of relevant clinical data has resulted in a challenge in diagnosis and management.

An Aggressive Case of Sinonasal Squamous Cell Carcinoma, Invasive to Bone, Arising Within Inverted Papilloma with Intracranial Extension: A Case Report.

Sinonasal squamous cell carcinoma represents a rare and aggressive disease. Clinical presentation usually mimics other benign entities and consequently this malignancy is seldom diagnosed in early stages. Surgical management, although is standard of care, is rarely amenable due to the structures involved, usually intracranially. This article encompasses a case report of squamous cell carcinoma involving the ethmoidal, maxillary, and sphenoid sinuses invasive to bone and extending intracranially.

Paraneoplastic syndrome and underlying breast cancer: a worsening rash despite initiation of chemotherapy.

Skin may show the first clinical evidence of systemic disease and can be the first clue to malignancy in 1% of cases. Dermatomyositis is an immunologically mediated inflammatory myopathy characterized by proximal muscle weakness, muscle inflammation, and characteristic skin findings. It has an incidence of 1 in 100,000 patients. In 15%-30% cases of dermatomyositis, an underlying malignancy is the cause of paraneoplastic syndrome. Ovarian and breast cancer in women and lung cancer in men are the most common malignancies associated with dermatomyositis. Here we report the case of a 55-year-old postmenopausal woman who initially presented with a facial rash. She was treated for chemical dermatitis without resolution of symptoms and was subsequently found to have dermatomyositis associated with stage IV invasive ductal carcinoma of the breast. In most cases, the skin changes resolve after treatment for the underlying malignancy has been initiated, but in this case of paraneoplastic dermatomyositis, the rash worsened with initiation of treatment for underlying breast cancer.

Phase I-II study of the farnesyl transferase inhibitor tipifarnib plus sequential weekly paclitaxel and doxorubicin-cyclophosphamide in HER2/neu-negative inflammatory carcinoma and non-inflammatory estrogen receptor-positive breast carcinoma.

Tipifarnib (T) is a farnesyl transferase inhibitor (FTI) that enhances the antineoplastic effects of cytotoxic therapy in vitro, has activity in metastatic breast cancer, and enhances the pathologic complete response (pCR) rate to neoadjuvant doxorubicin-cyclophosphamide (AC) chemotherapy. We, therefore, performed a phase I-II trial of T plus neoadjuvant sequential weekly paclitaxel and 2-week AC chemotherapy in locally advanced breast cancer. Eligible patients with HER2-negative clinical stage IIB-IIIC breast cancer received 12 weekly doses of paclitaxel (80 mg/m(2)) followed by AC (60/600 mg/m(2) every 2 weeks and filgrastim), plus T (100 or 200 mg PO on days 1-3 of each P dose, and 200 mg PO on days 2-7 of each AC cycle). The trial was powered to detect an improvement in breast pCR rate from 15 to 35 % (α = 0.10, ß = 0.10) in two strata, including ER and/or PR-positive, non-inflammatory (stratum A) and inflammatory carcinoma (stratum B). Of the 60 patients accrued, there were no dose-limiting toxicities among the first six patients treated at the first T dose level (100 mg BID; N = 3) or second T dose level (200 mg BID; N = 3) plus paclitaxel. Breast pCR occurred in 6/33 patients (18 %, 95 % confidence intervals (CI) 7-36 %) and 1/22 patients (4 %, 95 % CI 0-8 %) in stratum B. Combination of the FTI T with weekly paclitaxel-AC is unlikely to be associated with a breast pCR rate of 35 % or higher in patients with locally advanced HER2/neu-negative inflammatory or non-inflammatory ER- and/or PR-positive breast carcinoma.

Role of epigenetic alterations in the pathogenesis of Barrett's esophagus and esophageal adenocarcinoma.

Barrett's esophagus, a pre-malignant condition that can lead to esophageal adenocarcinoma, is characterized by histological changes in the normal squamous epithelium of the esophagus. Numerous molecular changes occur during the multistage conversion of Barrett's metaplasia to dysplasia and frank adenocarcinoma. Epigenetic changes, especially changes in DNA methylation are widespread during this process. Aberrant DNA methylation has been shown to occur at promoters of tumor suppressor genes, adhesion molecules and DNA repair genes during Barrett's esophagus. These epigenetic alterations can be used as molecular biomarkers for risk stratification and early detection of esophageal adenocarcinoma. We also show that genome wide analysis of methylation surprisingly reveals that global hypomethylation and not hypermethylation is the dominant change during Barrett's metaplasia. The transformation of Barrett's esophagus to frank adenocarcinoma is in turn characterized by much smaller wave of selective promoter hypermethylation. These studies reveal many novel, potential targets for new therapies and illustrate the utility of incorporating these epigenetic changes as biomarkers during endoscopic surveillance interval for patients with Barrett's esophagus.