A Nearly Missed Case of Mitral Bioprosthetic Paravalvular Leak (PVL)-Related Waring Blender Syndrome Treated With Transcatheter Mitral PVL Closure.

A 72-year-old woman with recently diagnosed non-small cell lung cancer, who underwent cardiac bypass and bioprosthetic mitral valve replacement presented to our cancer center with lightheadedness, severe fatigue, and shortness of breath. Initial blood tests showed mild hemolytic anemia. The patient also complained of occasional bright red bleeding per rectum. Esophagogastroduodenoscopy and colonoscopy did not reveal an acute source of bleeding. An initial transesophageal echocardiogram did not show significant valvular or paravalvular abnormalities. Meanwhile, the patient's hemolytic anemia worsened. She received eight units of packed red blood cell transfusions. Schematic workup for hemolytic anemia revealed negative Coomb's test, positive urine hemosiderin, normal ADAMTS13 activity, and absent splenomegaly. A relook of the patient's transesophageal echocardiogram (TEE) showed a small paravalvular leak of the bioprosthetic mitral valve. The patient was referred to a tertiary center, and repair of the perivalvular leak with glue resolved her hemolytic anemia, subsequently improving the lab values, symptoms, and quality of life. This case highlights the schematic workup of hemolytic anemia and also the importance of recognizing the association between hemolytic anemia and valvular abnormalities.

A Unique Case of a Patient With Pancreatic Cancer Developing Leptomeningeal Metastases While on Gemcitabine and Nab-Paclitaxel.

Brain metastases and leptomeningeal disease are rare with pancreatic cancer. Leptomeningeal disease is a catastrophic complication to have as patients deteriorate rapidly. Patients can present with symptoms of cranial nerve neuropathies, headache, nausea, and focal neurological deficits. We present a patient with metastatic pancreatic cancer who was treated initially with FOLFIRINOX (5-fluorouracil, leucovorin, irinotecan, and oxaliplatin) which resulted in marked clinical and radiologic improvement. However, he started to develop severe peripheral neuropathy and was switched to maintenance gemcitabine and nab-paclitaxel. On this regimen, his systemic disease was well controlled but he developed leptomeningeal carcinomatosis. To our knowledge, this is the first case of leptomeningeal metastases developing in a patient with pancreatic adenocarcinoma while on treatment with gemcitabine and nab-paclitaxel after cessation of FOLFIRINOX. We should maintain high clinical suspicion for leptomeningeal disease in pancreatic cancer, especially when systemic disease is well controlled, as the chemotherapeutic agents may not be crossing the blood-brain barrier effectively contributing to high morbidity and mortality.

Co-occurrence of High-Risk Myelodysplastic Syndrome With a Complex Karyotype/TP53 Mutation and IgG Lambda Monoclonal Gammopathy of Undetermined Significance.

Myelodysplastic syndrome (MDS) represents a group of hematologic disorders marked by abnormal cellular development in the bone marrow, while monoclonal gammopathy of undetermined significance (MGUS) involves abnormal plasma cells without symptomatic manifestations. This paper presents a compelling case of a 74-year-old Hispanic female diagnosed with a rare combination of high-risk MDS characterized by a complex karyotype and TP53 mutation, alongside IgG lambda MGUS. The patient's clinical presentation included a spectrum of symptoms such as body aches, rash, fever, dyspnea, and bloody watery diarrhea. Initial diagnostic evaluations yielded no significant findings, but subsequent investigations revealed abnormalities in both bone marrow and peripheral blood, indicative of coexisting MDS and MGUS. Chromosomal analysis further confirmed the presence of a complex karyotype with multiple aberrations, notably including 5q deletion. This case underscores the rarity of simultaneous high-risk MDS and MGUS, particularly with the additional complexity of a TP53 mutation and complex karyotype. It underscores the imperative for continued research efforts to elucidate the underlying mechanisms and optimal management strategies for such intricate cases. Moreover, it highlights the therapeutic challenges posed by concurrent MDS and plasma cell disorders, advocating for more aggressive interventions such as stem cell transplantation as potential avenues for improved patient outcomes.

Skull Metastasis With Orbital Invasion as a Primary Manifestation of Hepatocellular Carcinoma.

Hepatocellular carcinoma (HCC) is a common worldwide cancer with a poor prognosis despite treatment advancements. Patients typically exhibit signs and symptoms pertaining to the liver. Extrahepatic metastasis of HCC is documented to be as low as 5% of cases. Bone metastasis ranks third following lungs and regional lymph nodes. The typical locations for bone metastasis include the vertebral column, pelvis, femora, and ribs, with skull metastasis, being reported in less than 1.6% of cases. Herein, we describe a case of HCC presenting with skull metastases and orbital invasion as the initial manifestation.

Metastatic Clear Cell Carcinoma of Unknown Primary Origin in an Elderly Female Patient With Paraneoplastic Hypercalcemia.

Metastatic clear cell carcinoma (mCCC) is a rare histological subtype of cancer with ovarian and renal origins most common primary sites. Cancer of unknown primary origin (CUP) is a rare type of cancer in the United States and the most common histologic subtypes are adenocarcinoma, squamous cell cancer, and neuroendocrine cancer. We are presenting a rare case of an 86-year-old female patient with mCCC of unknown origin, biopsy and staining showed renal and ovarian in the differential of primary cancer type. However, the patient did not survive the aggressive nature of mCCC and was unable to get any trials of chemotherapy. Primary sites of adenocarcinoma of unknown origin are most common in the breast, lung, pancreas, prostate, colon, and liver. In most cases, empiric chemotherapy with platinum-based agents is the standard of care but needs more data to manage CUP, making it difficult to identify the primary site.

BRAF Inhibitors in BRAF-Mutated Colorectal Cancer: A Systematic Review.

Colorectal cancer (CRC) is the second-leading cause of cancer-related deaths globally. BRAF mutation is present in about 10% of CRC patients and is associated with a poor response to chemotherapy. These patients have a relatively poor prognosis. This review aims to assess the efficacy and safety of BRAF inhibitors in BRAF-mutated CRC patients. A literature search was performed on PubMed and Embase, and clinical trials relevant to BRAF inhibitors in CRC were included. Data were extracted for efficacy and safety variables. Two randomized clinical trials (n = 765) and eight non-randomized trials (n = 281) were included based on inclusion criteria. In RCTs, an overall response was reported in 23% of the patients treated with BRAF inhibitor-based regimens compared to 2.5% with control regimens. The hazard ratio of overall survival was also significantly better with triplet encorafenib therapy at 0.52 (95% CI = 0.39-0.70). In single-arm trials, ORR was 17% and 34% in two-drug and three-drug regimens, respectively. BRAF inhibitor-based regimens were safe and effective in the treatment of BRAF-mutated CRC. Large-scale randomized trials are needed to find a suitable population for each regimen. PROSPERO registration No. CRD42023471627.

Epstein-Barr Virus-Positive Primary Diffuse Large B-cell Lymphoma of the Colon in a Patient With Human Immunodeficiency Virus.

Colorectal lymphomas of primary origin are rare neoplasms accounting for 3% of all lymphomas involving the gastrointestinal (GI) tract, and of that 3%, 0.1-0.5% involve the colorectal region. Among the types of non-Hodgkin's lymphomas involving the GI tract, diffuse large B-cell lymphoma (DLBCL) is the most common type. While extranodal involvement of DLBCL in the GI is common, DLBCL of the colon with Epstein-Barr virus positivity is a rare entity with only a few cases reported in the literature. Here, we present a rare case of a 53-year-old female with human immunodeficiency virus (HIV) who presented with generalized abdominal pain, weight loss, night sweats, and fevers. A computed tomography scan of the abdomen and pelvis showed a mass on the right side of the colon with associated retroperitoneal and right inguinal lymphadenopathy. She later underwent a colonoscopy with a biopsy. Histopathology showed DLBCL of the ascending colon and chemotherapy was initiated.

A successful initiation of treatment of Hodgkin's lymphoma with adriamycin-bleomycin-vinblastine-dacarbazine dose reduction in a patient with fulminant hepatic failure and co-infection with human immunodeficiency virus and hepatitis B.

INTRODUCTION: Hodgkin lymphoma is a highly curable lymphoproliferative malignancy with an overall relative survival rate of 87.4%. It is characterized by multinucleated Reed-Sternberg cells which are mostly derived from B cells in the germinal center. CASE REPORT: We present a case of a 40-year-old gentleman with acquired immunodeficiency syndrome who presented with Stage 4b Hodgkin lymphoma complicated with fulminant hepatic failure and direct hyperbilirubinemia. The initial presentation of Hodgkin lymphoma as cholestatic jaundice is extremely rare. MANAGEMENT AND OUTCOME: Though the survival rate with chemotherapy is high, the fulminant hepatic failure made the situation challenging with the use of chemotherapeutic regimens that require hepatic excretion. He received dose reduced adriamycin-bleomycin-vinblastine-dacarbazine regimen [doxorubicin 12.5 mg (6.75 mg/m2), bleomycin 18 units (10 units/m2), vinblastine 3 mg (1.5 mg/m2), dacarbazine 380 mg (190 mg/m2)] as well as bictegravir/emtricitabine/tenofovir alafenamide since admission for treatment of human immunodeficiency virus and hepatitis B. He started responding with the first cycle of dose reduced adriamycin-bleomycin-vinblastine-dacarbazine regimen with bilirubin levels trended down and normalized as well as his clinical condition improved. He received the full dose of adriamycin-bleomycin-vinblastine-dacarbazine on day 15. DISCUSSION: Our case report emphasizes that the early usage of dose reduced adriamycin-bleomycin-vinblastine-dacarbazine regimen can restore hepatic function and can achieve improvement in hepatic function allowing the delivery of full-dose chemotherapy.

Small Lymphocytic Lymphoma Presenting as a Breast Lump: A Rare Presentation of Non-Hodgkin's Lymphoma.

Approximately one-fourth of non-Hodgkin's lymphomas (NHLs) present with an extranodal origin. Primary and secondary involvements of the breast by lymphoma are rare because of the paucity of lymphoid tissue in the breast. Primary breast small lymphocytic lymphoma (SLL) typically presents as a manifestation of widespread chronic lymphocytic leukemia (CLL). A 58-year-old female presented to our clinic with a palpable breast mass. She had no cytopenias and her absolute peripheral B lymphocyte count was less than 5000/microL. The mass was biopsied and histology with immunohistochemistry showed neoplastic cells positive for CD23 and CD5 confirming the diagnosis of small B cell lymphocytic lymphoma of the breast. Further imaging revealed extensive mediastinal and retroperitoneal lymphadenopathy. Histopathology of bone marrow biopsy revealed diffuse infiltration with SLL. The patient was treated with six cycles of fludarabine, cyclophosphamide and rituximab (FCR) with excellent clinical response. To our knowledge, this is the first case of SLL infiltration of the breast without CLL treated successfully with FCR.

A rare case report of malignant peripheral nerve sheath tumor involving both the small bowel and large bowel.

Malignant peripheral nerve sheath tumor (MPNST) contains properties and histologic markers of both neural crest cells and mesenchymal cells. It is a rare diagnosis, with an incidence of 1:100,000/year or 4%-10% of soft-tissue sarcomas. There are very few cases reported and studied. Therefore, establishing a proper diagnosis and treatment of MPNST provides a challenge. We present this unique and rare case of metastatic MPNST of the small and large bowel with bone, pulmonary, liver, and splenic metastases. The patient subsequently developed hemorrhagic brain metastases and died 6 months after THE initial diagnosis.

Résumé La tumeur maligne de la gaine nerveuse périphérique (MPNST) contient des propriétés et des marqueurs histologiques des cellules de la crête neurale et du mésenchyme cellules. Il s'agit d'un diagnostic rare, avec une incidence de 1: 100 000 / an ou 4 à 10% des sarcomes des tissus mous. Il y a très peu de cas signalés et étudié. Par conséquent, l'établissement d'un diagnostic et d'un traitement appropriés de la MPNST constitue un défi. Nous présentons ce cas unique et rare de MPNST métastatique du petit et du gros intestin avec métastases osseuses, pulmonaires, hépatiques et spléniques. Le patient a ensuite développé métastases cérébrales hémorragiques et est décédé 6 mois après LE diagnostic initial.

Tocilizumab and Thromboembolism in COVID-19: A Retrospective Hospital-Based Cohort Analysis.

Background Tocilizumab, an interleukin-6 (IL-6) receptor antagonist, has been used in patients with coronavirus disease 2019 (COVID-19) as an anti-cytokine agent. IL-6 also plays a complex role in hemostasis and thrombosis. We observed a transient elevation of D-dimer in our patients who received tocilizumab, which triggered this study. Methods A retrospective hospital-based cohort analysis of patients with confirmed COVID-19 who received tocilizumab during the study period of March 15, 2020, to May 20, 2020, was conducted. We retrieved demographic, clinical, and laboratory data, and patients who were receiving therapeutic anticoagulation therapy prior to tocilizumab administration were excluded. Descriptive analysis was performed, and the cause of death and trends of D-dimer and inflammatory markers were studied. Results Out of the 436 confirmed COVID-19 patients admitted during the study period, 24 met the inclusion criteria. Their median age was 47.5 years. They were 18 males and 6 females; 15 patients survived and nine expired. Of the group that survived, 12 received therapeutic anticoagulation. Of the seven patients who did not receive therapeutic anticoagulation, four expired (one from sepsis and three probably from thromboembolic complications) compared to five deaths in the 17 patients who received therapeutic anticoagulation (four from sepsis and one possibly from thromboembolic complications). Conclusions The interplay between IL-6, IL-6 receptor antagonist, and venous thromboembolism is complex. We observed a transient elevation of D-dimer in COVID-19 patients who received tocilizumab, and a trend toward increased death secondary to thromboembolism. This observation is novel and highlights the potential thrombophilic side effects of tocilizumab.

Diffuse bone metastasis from cholangiocarcinoma involving the sternum: A case report and review of literature.

Cholangiocarcinoma (CCA) is a rare cancer of the bile duct epithelial cells and it commonly spreads to the regional lymph nodes, liver, and lungs. Bone metastasis has been reported in patients with CCA, involving both the axial and appendicular skeleton. Herein, we report a case of extrahepatic CCA with extensive bone metastases involving the calvarium, sternum, bilateral ribs and scapulae, entire spine, pelvis, and bilateral femur. To our knowledge, this is the first case report on sternum metastasis in CCA. The case presentation and review of literature highlighted the rarity of this metastasis, and health-care providers should be aware of the rare presentation of CCA.

Persistent Hypercoagulable State in COVID-19: A Case Series of COVID-19 Associated Pulmonary Embolism.

Coronavirus disease 2019 (COVID-19) has swept through the world with millions of cases and hundreds of thousands of deaths. COVID-19-associated coagulopathy has been recognized as the major cause of morbidity and mortality. To the best of our knowledge, a majority of the cases of coagulopathy have been reported in patients with moderate-to-severe COVID-19 and limited to observations during the recovery/postcytokine storm state. Herein, we report a case series of two patients with COVID-19 who developed pulmonary embolism in the late phase of the disease. This raised the hypothesis that the risk of hypercoagulability in patients with COVID-19 can persist until the recovery phase, which would warrant a follow-up with D-dimer and fibrinogen trending, as well as postdischarge thromboprophylaxis for at least 2 weeks during the recovery phase.

Systemic Lupus Erythematosus With Hemophagocytic Lymphohistiocytosis: Is COVID-19 the Inciting Factor?

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by an aberrant immune response leading to immune-mediated damage to tissues. Hemophagocytic lymphohistiocytosis (HLH), a life-threatening condition, consists of a constellation of symptoms caused by excessive immune activation and cytokine storm. HLH is categorized into the primary and secondary form. The secondary form is often referred to as the macrophage activation syndrome. HLH in the background of SLE is a rare and potentially fatal entity. It is often seen in the context of disease flare and is rarely associated with the initial diagnosis of SLE. Severe infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes a cytokine storm characterized by marked elevation of inflammatory markers including ferritin. Here, we describe the case of a young female with an inaugural diagnosis of SLE and features of HLH after a recent SARS-CoV-2 infection.

A rare case of co-occurrence of pulmonary embolism and left ventricular thrombus in a patient with COVID-19.

The global pandemic of severe acute respiratory syndrome coronavirus 2 has caused significant morbidity and mortality, not only causing devastating lung injury but also has an enormous effect on the cardiovascular system. The hypercoagulable state associated with coronavirus 2019 plays a major role in the disease manifestation. Venous thromboembolism including pulmonary embolism remains the most common thrombotic manifestation of the disease as compared to arterial thrombosis. Nonetheless, the co-occurrence of both venous and arterial thrombosis in a coronavirus 2019 patient, to our knowledge, has rarely been reported. Herein, we are presenting a case of co-occurrence of left ventricular thrombosis with pulmonary embolism in the setting of coronavirus 2019 with successful treatment with apixaban.

COVID-19 Associated Coagulopathy in the Setting of Underlying Malignancy.

Coronavirus disease 2019 (COVID-19) associated coagulopathy is a well-recognized predictor for morbidity and mortality in COVID-19 patients. Both deep vein thrombosis (DVT) and pulmonary embolism (PE) have been reported in COVID-19 patients. Nonetheless, there are no consensus guidelines on the use of therapeutic coagulation in this group of patients. We herein present a unique case of a confirmed COVID-19 patient with metastatic ovarian cancer who presented with DVT and PE despite being on therapeutic anticoagulation, highlighting the unpredictability of COVID-19 associated coagulopathy. This case study raises the awareness that the thrombophilic state in metastatic malignancies is potentially augmented by COVID-19. We also discuss the complexity of making anticoagulation treatment decision in COVID-19 patients in the absence of evidence-based guidelines.

A rare and unusual presentation of Epstein-Barr virus-associated diffuse large B-cell lymphoma involving colon as the primary site.

Lymphoproliferative malignancies can involve both nodal- and extra-nodal tissues. The most common extranodal site involved is the gastrointestinal (GI) tract, and it is secondary to the widespread primary nodal disease. However, about 33% of non-Hodgkin's lymphoma primarily arise from tissues other than lymph nodes, spleen, or bone marrow, for example, GI tract, skin, or the central nervous system and are called primary extranodal lymphomas. The most common site of GI localization is stomach (50%-60%) followed by small bowel. Primary colonic lymphoma is seen only in 6% of GI lymphomas and up to 0.5%-1% of all colon malignancies. Hence, primary GI lymphoma is extremely rare, and primary colonic lymphoma is an even rarer occurrence. There is clearly a paucity of cases reported in literature resulting in unclear treatment protocol. Here, we report a case of a 51-year-old man who presented with abdominal pain, weight loss, and bright red blood per rectum. A colonoscopy revealed diffuse bleeding ulcers involving the entire colon. Pathology was consistent with primary diffuse large B-cell lymphoma arising from the colon. The patient was started on treatment with rituximab, cyclophosphamide, adriamycin, vincristine, and prednisone.

Unprovoked Pulmonary Embolism in Factor VII Deficiency.

Thrombotic events in bleeding disorders such as hemophilia A or B, Von Willebrand disease, afibrinogenemia, factor VII deficiency, and factor XI deficiency are rare but have been reported. These events usually occur in the presence of prothrombotic risk factors such as recent surgery, trauma, or factor replacement therapy. We present a case of a 68-year-old Hispanic female with a history of factor VII deficiency who presented with shortness of breath, chest pain, and palpitations and was found to have pulmonary embolism. Our patient did not have any of the above-mentioned thrombotic risk factors. Our case and review of the literature show that factor VII deficiency does not provide protection against thrombosis.