Rare Ring Chromosome [r(15)]: Cytogenetic Abnormality in TP53-Mutated De Novo AML-M4 Masked as Gastrointestinal Bleed With Rapidly Progressing Hyperleukocytosis and Leukostasis.

TP53-mutated (TP53m) acute myeloid leukemia (AML) comprises only 5-15% of de novo AML, associated with poor survival outcomes due to its resistance to conventional therapy. Ring chromosomes, an even more rare subset of genetic anomalies, occur in only 2% of cases. We report a unique case of de novo AML with both TP53 and ring chromosome anomalies leading to a catastrophic outcome in a 72-year-old male who initially presented with gastrointestinal bleeding (GIB) and urethral stone status post-cystoscopy with J-stent placement. He had no history of chemotherapy use, radiation, benzene exposure, or any other risk factors except for his age. He was noted to have pancytopenia, for which bone marrow biopsy, flow cytometry, and cytogenetic studies were done. Biopsy reported an interesting next-generation sequenced TP53-mutated AML, which correlates with a low rate of response to standard chemotherapy except for bone marrow transplants. Notably, with a complex aberration of 45 XY with multiple translocations (t), deletions (del), inversions (inv), derivative (der) breakpoints, aneuploidy, and rare ring and maker chromosomes, his case was complicated with rapid-onset and very severe hyperleucostasis, reflecting the prognostic value of this rare cytogenetic configuration. The patient expired within 48 hours of diagnosis, despite the urgent initiation of cytoreductive therapy and the mitigation of tumor lysis syndrome with Rasburicase. To the best of our knowledge, this is one of the first AML-M4 patients with rapid-onset leucostasis and the demise of next-generation sequences (NGS) in a de Novo AML patient with this rare complex combination.

Primary Peritoneal Carcinoma: A Rare Malignancy Presenting a Diagnostic Challenge.

With the advancement in technologies and the development of a vast variety of tests, diagnosing diseases has become relatively easy. However, certain diseases are challenging to diagnose due to their similarities with other disease processes. Primary peritoneal carcinoma (PPC) is one of the infrequent tumors that has a resemblance to an ovarian tumor, often making it hard to diagnose. The symptoms are non-specific, and by the time primary peritoneal cancer is diagnosed, the patient is usually at an advanced stage. Although diagnosis might be suspected based on presenting symptoms, it is rarely confirmed with symptomatology alone, requiring additional tumor markers or radiological studies. Sometimes it is diagnosed after surgical removal of the lesion. Several similarities have been described between PPC and ovarian cancer, with some studies explaining the differences as well. We highlight the importance of careful interpretation of imaging studies for the timely diagnosis of PPC. However, several factors can interfere with the analysis of test results leading to delays in diagnosis and management. Interpretation of imaging becomes difficult, especially in patients with significant ascites.

A Case of Non-cutaneous Kaposi Sarcoma.

Kaposi sarcoma is a malignancy common in patients with acquired immune deficiency syndrome (AIDS). It is a proliferative soft-tissue tumor commonly manifesting as pigmented papules and nodules on the skin. Lesions can also appear on the mucosal lining of the oropharynx and other parts of the body such as the lymph nodes. Head and neck involvement in Kaposi sarcoma is not unusual; however, laryngeal involvement is not commonly seen. We report the case of a 31-year-old gentleman, a former smoker with AIDS, who developed a mass in the throat with progressive hoarseness of voice without stridor. An elective tracheostomy was done to protect his airway before performing a direct laryngoscopy with biopsy. Histopathology examination showed neoplastic spindle cells positive for CD31, erythroblast transformation specific-related gene, and human herpesvirus 8, consistent with Kaposi sarcoma. The diagnosis of laryngeal Kaposi sarcoma in immunodeficient patients requires a high index of suspicion, especially when it occurs without classical dermatological manifestation, an interesting feature in this report.

Improving residents' skills and confidence on advance directive discussion: a quality improvement project.

Background: Advance directives have been established as a legal document that ensures patients' wishes are followed if/when they cannot make medical decisions for themselves. The concept, advance directive, is rooted in the ethical principle of patient's autonomy. New York State recognizes three types of advance directives: New York State Health Care Proxy, Living Wills, and Do Not Resuscitate (DNR) order. A common misnomer in healthcare is the idea that advance directives are for the elderly or patients with terminal illness. As per New York State statutes, everyone older than 18-years-old should have an advance directive to avoid conflicts in times of crisis. It has been shown that most patients believe it is their physician's responsibility to initiate an advance directive discussion and residents are at the forefront of most health facilities. Objective: To assess the knowledge and attitude of internal medicine residents towards advance directive and to improve residents' skills and confidence on advance directive discussion. Design: We carried out a prospective study to assess the knowledge and attitude of the internal medicine residents towards advance directive to validate the need to implement didactic sessions and simulations. Results: Fifty out of the 75 internal medicine residents of Harlem Hospital Center participated in the study. Most of the responders indicated that they lacked sufficient knowledge in advance directive discussion and indicated that they were interested in didactic sessions and simulations related to how to help patients with advance directives. Conclusion: Our study showed that most of the residents lacked sufficient knowledge in advance directives discussions and the importance of its incorporation into residency training education.

A Rare Presentation of Hepatocellular Carcinoma Infiltrating the Gallbladder.

Hepatocellular carcinoma (HCC) is a solid tumor of the liver and one of the most common primary tumors of the liver. Lifestyle being a major risk factor for the development of HCC makes it a major public health concern worldwide. HCC rarely infiltrates the gall bladder because it rarely destroys the muscle layer and collagen fibers of the gallbladder wall. We report here a rare case of hepatocellular carcinoma that invaded the gallbladder and was initially misdiagnosed as primary gallbladder malignancy invading the liver.

A rare case of intracerebral hemorrhage complicating heparin-induced thrombocytopenia with thrombosis: a clinical dilemma ameliorated by novel use of plasmapheresis.

We report a case of heparin-induced thrombocytopenia with thrombosis type 2 (HITT 2) that was first complicated by intracerebral hemorrhage (ICH) and later by deep venous thrombosis (DVT). HITT 2 was initially managed conventionally with argatroban, which was stopped when ICH was discovered. The size of ICH increased despite attempts to increase platelet count by platelet transfusions. At this point of the clinical dilemma, plasma exchange was utilized effectively to recover the platelet count and deter ICH progression. The clinical course was later complicated by DVT, for which fondaparinux was given. This case represents a rare clinical scenario of HITT 2 resulting in progressive ICH that excluded the use of antithrombotic agents as part of HITT therapy. We believe that the use of plasmapheresis as a salvage procedure in such situations is effective and life-saving. Physicians should be aware of plasmapheresis as a therapeutic option in HITT 2 in cases in which anticoagulation is contraindicated.