TP53 in AML and MDS: The new (old) kid on the block.

MDS and AML are clonal hematopoietic stem cell disorders of increasing incidence, having a variable prognosis based, among others, on co-occurring molecular abnormalities. TP53 mutations are frequently detected in these myeloid neoplasms and portend a poor prognosis with known therapeutic resistance. This article provides a timely review of the complexity of TP53 alterations, providing updates in diagnosis and prognosis based on new 2022 International Consensus Classification (ICC) and World Health Organization (WHO) guidelines. The article addresses optimal testing strategies and reviews current and arising therapeutic approaches. While the treatment landscape for this molecular subgroup is under active development, further exploration is needed to optimize the care of this group of patients with unmet needs.

Storage Artifact Masquerading as Yeast: Presenting a Diagnostic Pitfall.

Abnormal cell morphology can result from prolonged specimen storage, both for red and white blood cells. In particular, nuclear pyknosis of segmented neutrophils can occur in both peripheral blood and body fluids and may represent a diagnostic pitfall as it can mimic intracellular yeast or bacteria morphology. Pathologists are frequently asked to examine body fluid smears which are thought to contain microorganisms, and the presence of an unexpected organism can be especially concerning. Morphologic changes from prolonged storage may be encountered infrequently, and it is important to be aware of them in order to avoid misrepresentation, as additional work-up may be required for a suspected case of an unexpected fungal infection.

Cardiac Involvement by Human Herpesvirus 8-Positive Diffuse Large B-Cell Lymphoma: An Unusual Presentation in a Patient with Human Immunodeficiency Virus.

Human immunodeficiency virus (HIV) infection predisposes patients to the development of lymphomas, both due to immune suppression and coinfection with viruses with oncogenic potential. Coinfection with human herpesvirus 8 (HHV8) in particular has been associated with the development of aggressive lymphomas, including primary effusion lymphoma and diffuse large B-cell lymphoma (DLBCL). Herein, we report an unusual case of HHV8-positive DLBCL with extensive cardiac involvement which was diagnosed at autopsy in a patient with long-standing untreated HIV infection.

BCR-ABL1 p210 screening for chronic myeloid leukemia in patients with peripheral blood cytoses.

INTRODUCTION: Chronic myeloid leukemia (CML) usually presents with leukocytosis with neutrophilia, left shift, and basophilia. Documentation of the BCR-ABL1 fusion is required for diagnosis, and this is often achieved via p210 BCR-ABL1 real-time polymerase chain reaction (RT-PCR). METHODS: Patients undergoing first-time testing for p210 BCR-ABL1 at our institution were retrospectively identified. The medical record was reviewed, and the patient age, sex, clinical indication for testing, and concurrent CBC with differential were identified for 518 patients. BCR-ABL1 p210 testing had been performed using a laboratory-developed quantitative RT-PCR assay. Statistical analysis of the results was performed using an unpaired t test, and P values of <.05 were considered statistically significant. RESULTS: Twenty-four patients received a new diagnosis of CML (4.6%). As compared to patients with a negative PCR, these patients were more likely to have a markedly elevated white blood cell count (WBC), neutrophilia, and a mild anemia. Ninety-two percent (22/24) of new CML patients had a WBC ≥20 × 109 /L, and the two new CML patients with WBC <20 × 109 /L had basophilia in the peripheral blood. By contrast, 92% (449/490) of non-CML patients had a WBC <20 × 109 /L. CONCLUSION: The peripheral blood parameters of total WBC ≥20 × 109 /L and absolute basophil count can help guide the need for BCR-ABL1 PCR testing, which can lead to more judicious test utilization, decreased healthcare costs, and decreased false positives, while keeping a high sensitivity for CML. This study also underscores the importance of obtaining a complete differential in patients for whom CML is suspected.

Sudden Unexpected Death in a Child From Acute Myeloid Leukemia.

ABSTRACT: Acute myeloid leukemia can rarely cause sudden, unexpected death in children. Presentation may be non-specific and death may occur in children with no prior medical history. Herein we present the case of a previously healthy 2-year and 2 month-old White girl, who on autopsy, was found to have acute myeloid leukemia with KMT2A rearrangement extensively involving all major thoracic and abdominal organs. This case is presented to the forensic community to discuss the presentation and findings in sudden death caused by acute leukemia. The case highlights when acute leukemia should enter the differential as a potential cause of death, as well as potential resources available in the postmortem workup of acute leukemias.

Suicide by an Unusual Compound: A Case of Barium Acetate Toxicity.

ABSTRACT: Forensic pathologists may sometimes encounter cases of suicide with ingestion of unusual compounds. Herein, we describe a case of suicide by ingestion of barium acetate. Deaths by ingestion of this compound have not previously been reported in literature. This case shows the clinical presentation of the toxicity of barium compounds and highlights the importance of scene investigation and clinicopathologic correlation in suicides by unusual ingestion.

A rare case of emphysematous pyelonephritis caused by Candida parapsilosis and Finegoldia magna complicated by medical care avoidance.

Emphysematous pyelonephritis (EPN) is a necrotizing gas producing infection of the renal parenchyma that commonly occurs in patients with diabetes. EPN requires early diagnosis and treatment due to the possible life-threatening septic complications. We report a rare case of EPN caused by an unfavorable mixed infection of Candida parapsilosis and Finegoldia magna. To our knowledge, this is the first reported case of EPN caused by Finegoldia magna. A 62-year-old male with diabetes mellitus (DM) presented with abdominal pain, shortness of breath, and nausea in which a diagnosis of septic shock was made due to EPN. Our patient first noticed abdominal pain 3 weeks prior to hospital presentation; however, he avoided getting treatment due to a fear of contracting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This patient exhibited deterioration and expired after surgical intervention despite uneventful nephrectomy. This case suggests that medical care avoidance behaviors among patients could potentially complicate their clinical course.

Pathologic Complete Response to Neoadjuvant Nivolumab/Ipilimumab in a Patient with Metastatic Renal Cell Carcinoma.

Nivolumab plus ipilimumab represents an effective combination of checkpoint inhibitors that can lead to a durable response with minimal toxicity in patients with metastatic renal cell carcinoma (mRCC). We present a case of a pathologic complete response to neoadjuvant nivolumab plus ipilimumab in a patient with a 13.9 cm left renal mass and significant retroperitoneal and iliac lymphadenopathy, classified as intermediate-risk mRCC. We discuss and review the literature on complete responses after systemic therapy and the ability to predict who has undergone a complete response in the face of residual radiographic evidence of disease.

Mucinous adenocarcinoma of the prostatic urethra following a remote history of primary brachytherapy for prostate cancer.

Secondary malignancies are a known, albeit uncommon, complication of radiation for prostate cancer, either in the form of external beam radiotherapy or seed-implant brachytherapy. Of these secondary malignancies, mucinous adenocarcinoma of the prostatic urothelium is an extremely rare clinical entity that has only once been reported in the literature. We report the case of an 80-year-old gentleman who initially underwent low-dose brachytherapy for low-risk prostate cancer 18 years ago. He subsequently developed recurrent gross hematuria and obstructive voiding symptoms. He underwent cystoscopy and transurethral resection of a large tumor from within the prostate. Final pathology of the tumor revealed a mucinous adenocarcinoma. Further immunostaining revealed this is likely to have originated from the prostatic urothelium. Given his age, comorbidities, and no clear data demonstrating that aggressive extirpative surgery provides a clinical benefit, we elected to undergo surveillance. Clinicians should be aware of mucinous adenocarcinoma of the prostatic urethra as an extremely rare, radiation-induced malignancy. Once a diagnosis is made, extirpative surgery is an option for localized disease, although prognosis remains poor.

A comparison between leukocyte reduced low titer whole blood vs non-leukocyte reduced low titer whole blood for massive transfusion activation.

BACKGROUND: Hemorrhagic shock is the leading cause of survivable death in trauma patients and recent literature has focused on resuscitation strategies including transfusing low-titer group O whole blood (LTOWB). Debate remains regarding whether leukocyte reduced (LR) whole blood is of clinical benefit or detriment to patients requiring massive transfusion. This study compares survival outcomes between LR-LTOWB and non-LR LTOWB. STUDY DESIGN AND METHODS: The objective of this prospective, observational study was to detect any difference in 24-hour survival between patients receiving LR-LTOWB and non-LR LTOWB during their massive transfusion activation. Secondary objectives were to report any difference in ICU LOS, ventilation days, in-hospital survival, and hospital LOS. Data collected included patient sex, age, mechanism of injury, Injury Severity Score (ISS), Trauma Injury Severity Score (TRISS), cause of death, and number of LTOWB transfused. RESULTS: A total of 167 patients received 271 LTOWB transfusions. There were 97 patients that received 168 units of LR-LTOWB while 70 patients received 103 units of non-LR LTOWB. The two study groups were comparable in terms of age, sex, ISS, TRISS, and the number of LTOWB transfused. The use of LR LTOWB during the initial massive transfusion activation in traumatically injured patients was not associated with increased 24-hour survival compared to when using non-LR LTOWB. No transfusion associated adverse events were reported. CONCLUSIONS: The administration of either LR or non-LR LTOWB was not associated with >24 hours survival in patients presenting with massive hemorrhage. The high cost and the rapid decline in platelet count of LR whole blood may be a consideration.

A Case Report of an Obstructing Ureteral Nephrogenic Adenoma in a Child Managed With Open Ileal Ureter.

Nephrogenic adenoma is a rare, benign lesion that can be encountered anywhere along the urinary tract. It is associated with genitourinary trauma, chronic inflammation, genitourinary surgery, renal transplant, urolithiasis, and radiation. In children, these lesions are almost exclusively found in the bladder. However, we report an unusual case of a 15-year-old boy with no prior urologic history who presented with an obstructing right ureteral nephrogenic adenoma that required an ileal ureter interposition and right ureterectomy.

Educational Case: Small Lymphocytic Lymphoma: Diagnostic Features and Prognosis.

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040.1.