Meekoo Dhar

Renal epithelioid angiomyolipoma: a malignant disease.

BACKGROUND Renal angiomyolipomas are recognized as clonal neoplasms with clonal chromosomal aberrations and a common progenitor cell, the perivascular epithelial cell (PEC). The epithelioid variant is a recently identified entity, characterized by predominance of PEC and a unique morphologic and immunohistochemical profile. There is accumulating evidence suggesting that renal epithelioid angiomyolipoma (REA) is a malignant disease. METHODS We searched the literature for descriptions of clinical behavior of REA. A Pubmed search was performed using the following key words: angiomyolipoma, epithelioid, perivascular epithelial cell or/and renal tumors. We reviewed a case of fatal REA at our institution. A pathologist reviewed slides to confirm the diagnosis. RESULTS Upon review of 140 articles, 37 eligible articles were found including 10 articles describing the clinical course of REA. Almost all of the patients described, for whom there was a follow-up available, died of neoplastic progression of the disease, with liver, lung and bone metastases. Four cases were reclassified after retrospective pathology review, and they were fatal. Three of these had been misdiagnosed as renal cell carcinoma (RCC), while 1 was diagnosed as classic angiomyolipoma. CONCLUSION Unlike commonly benign classic angiomyolipoma, REA behaves aggressively. It is crucial for the clinician to be aware of and identify this epithelioid variant as a malignant disease. It should be carefully differentiated from RCC. Resection alone may not be curative, and adjuvant therapy should be considered. A multimodality treatment approach needs to be explored for this newly recognized malignant variant renal angiomyolipoma.

Severe refractory autoimmune hemolytic anemia with both warm and cold autoantibodies that responded completely to a single cycle of rituximab: a case report.

IntroductionMixed warm and cold autoimmune hemolytic anemia runs a chronic course with severe intermittent exacerbations. Therapeutic options for the treatment of hemolysis associated with autoimmune hemolytic anemia are limited. There have been only two reported cases of the effective use of rituximab in the treatment of patients with mixed autoimmune hemolytic anemia. We report a case of severe mixed autoimmune hemolytic anemia that did not respond to steroids and responded to four weekly doses of rituximab (one cycle).Case presentationA 62-year-old Caucasian man presented with dyspnea, jaundice and splenomegaly. His blood work revealed severe anemia (hemoglobin, 4.9 g/dL) with biochemical evidence of hemolysis. Exposure to cold led to worsening of the patients hemolysis and hemoglobinuria. A direct antiglobulin test was positive for immunoglobulin G and complement C3d, and cold agglutinins of immunoglobulin M type were detected. A bone marrow biopsy revealed erythroid hyperplasia. A positron emission tomographic scan showed no sites of pathologic uptake. There was no other evidence of a lymphoid or myeloid disorder. Initial therapy consisted of avoidance of cold, intravenous methylprednisolone and a trial of plasmapheresis. However, there was no clinically significant response, and the patient continued to be transfusion-dependent. He was then started on 375 mg/m2/week intravenous rituximab therapy. After two treatments, his hemoglobin stabilized and the transfusion requirement diminished. Rituximab was continued for a total of four weeks and led to the complete resolution of his hemolytic anemia and associated symptoms. At the patients last visit, about two years after the initial rituximab treatment, he continued to be in complete remission.ConclusionTo the best of our knowledge, this is the first reported case of mixed-type autoimmune hemolytic anemia that did not respond to steroid therapy but responded completely to only one cycle of rituximab. The previous two reports of rituximab use in mixed autoimmune hemolytic anemia described an initial brief response to steroids and the use of rituximab at the time of relapse. In both of these case reports, the response to one cycle of rituximab was short-lived and a second cycle of rituximab was required. Our case report demonstrates that severe hemolysis associated with mixed autoimmune hemolytic anemia can be unresponsive to steroid therapy and that a single cycle of rituximab may lead to prompt and durable complete remission.

Esophageal Granular Cell Tumor: A Case Report and Review of Literature.

Granular cell tumors (GCTs) are soft tissue neoplasms that originate from Schwann cells. They occur predominantly in the oral cavity, skin, and breast tissues. Gastrointestinal GCTs are very rare, accounting for only eight percent of all GCTs, most of which are located in the esophagus. Endoscopic ultrasound has been a breakthrough in diagnosing GCTs because it provides precise information on the depth of tumor invasion, thus narrowing the differential diagnosis of subepithelial lesions in the esophagus. However, the definitive diagnosis requires histological confirmation of the lesion. Here, we report a case of esophageal GCT that was identified incidentally and removed by endoscopic mucosal resection.

Bilateral hilar lymphadenopathy in a young female: a case report

Hilar or mediastinal lymphadenopathy is not included in the wide spectrum of radiologic findings associated with bronchiolitis obliterans-organizing pneumonia (BOOP). We present a patient who presented with extensive hilar and mediastinal lymphadenopathy. We suspected a diagnosis of sarcoidosis. The patient was diagnosed with idiopathic BOOP. This is the first case demonstrating that BOOP, now referred to as cryptogenic organizing pneumonia (COP), can present with bilateral hilar lymphadenopathy.

Long-term Survival in a Patient with Recurrent Pulmonary Metastases from Uterine Leiomyosarcoma

Chemotherapy is the standard of care for disseminated uterine leiomyosarcoma; however, long-term survival is rarely achieved with this aggressive disease. We report a patient with recurrent pulmonary metastatic disease from uterine leiomyosarcoma who is doing well without significant disease nine years after her initial diagnosis. We discuss her clinical course, the treatment modalities she received, and the clinical evidence supporting these.

Adenocarcinoma Ex-goblet Cell Carcinoid of the Appendix: a Case Report and Overview of the Disease

Goblet cell carcinoid (GCC) of the appendix is a rare disease with varying guidelines for histopathologic diagnosis and management. The disease is intriguing in terms of its pathologic features. Three subtypes have been described depending on the presence of signet ring cells and extent of differentiation of the adenocarcinoma component [1]. The clinical behavior of the tumor ranges from aggressive to relatively indolent disease. Treatment is based on extent of the disease, grade of the tumor, and individual patient characteristics. Whereas surgical resection remains the mainstay of resectable disease, adjuvant chemotherapy and intraperitoneal chemotherapy have been employed. We discuss our experience with diagnosis and management of the disease in a patient we encountered.

Embryonal Rhabdomyosarcoma of the Cervix: A Rare Disease at an Uncommon Age

Embryonal rhabdomyosarcoma (RMS) is a rare type of sarcoma, primarily seen in the pediatric and adolescent population. Three subtypes of embryonal RMS are described, with the botryoid type being the most common. The incidence of this disease in adult females is 0.4% to 1% with the affected age group being patients in the third to fourth decade of life. It is exceedingly rare in patients above 40 years of age. We describe the case of a 48-year-old female, gravida 9 para 5, who presented with abnormal vaginal bleeding and an exophytic mass on examination. Given her lack of requirement of maintaining parity, she underwent radical surgery. The tumor was 8 cm in the largest dimension with a high histologic grade and some cartilaginous differentiation. Immunohistochemical stains were positive for vimentin, CD99, myogenin, and MyoD1 consistent with a diagnosis of embryonal rhabdomyosarcoma, botryoid subtype. Based on high survival rates when treated with aggressive adjuvant chemotherapy, a decision was made to treat the patient with the ARST0331 regimen. We discuss the diagnostic pathologic features of the disease, the epidemiology, and the most common presentation along with prognostic factors, treatment strategies, and outcomes.

Correlation of Antiglobulin Reactivity and Severity of Pancytopenia in a Patient with Hemophagocytic Lymphohistiocytosis: A Case Report and Review of Literature

A 46‑year‑old obese male with a medical history of thalassemia minor presented to the emergency room with complaints of severe fatigue and jaundice worsening over two weeks. On further evaluation, the patient was found to have significant hyperbilirubinemia and transaminitis. The hospital course was further complicated by pancytopenia requiring multiple transfusions, worsening hyperbilirubinemia, severe hyperferritinemia, hypofibrinogenemia, and hypertriglyceridemia. He was also found to have splenomegaly and evidence of hemophagocytosis on bone marrow biopsy. On further testing, the patient was also found to have evidence of hemolysis along with a positive direct Coombs test consistent with autoimmune hemolytic anemia (AIHA), and elevated soluble IL-2 receptor level. The patient was subsequently diagnosed with hemophagocytic lymphohistiocytosis (HLH). He was treated with HLH-94 protocol along with rituximab for AIHA which resulted in improvement of patients condition. We present a case of HLH with no prior history of autoimmune disease, associated with Coombs positive AIHA that resolved after therapy for HLH. Our case also delineates how the intensity of antiglobulin reactivity, if present, may correlate with severity of the disease, its progression, and response to treatment.

Stage IV EGFR Mutation-Negative and ALK Mutation-Negative Lung Adenocarcinoma: Long-Term Survival is Possible

Lung cancer is the leading cause of cancer death in the United States with a five-year survival of 16.8% for all stages and median survival of four months for Stage IV disease. We report a case of a 54-year-old male with a seven-year survival after being diagnosed with Stage IV epidermal growth factor receptor (EGFR) mutation-negative and anaplastic lymphoma kinase (ALK) mutation-negative adenocarcinoma of the lung, demonstrating an exceptional response to treatment.