ABSTRACT
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.
Subject(s)
Leukemia, Myeloid, Acute , Myelodysplastic Syndromes , Myeloproliferative Disorders , Humans , Myelodysplastic Syndromes/diagnosis , Myelodysplastic Syndromes/genetics , Myelodysplastic Syndromes/therapy , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/therapy , Mutation , Prognosis , Tumor Suppressor Protein p53/geneticsABSTRACT
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.
ABSTRACT
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.
ABSTRACT
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.
Subject(s)
Death, Sudden/etiology , Leukemia, Myeloid, Acute/diagnosis , Acidosis/etiology , Anemia/etiology , Child, Preschool , Female , Gene Rearrangement , Histone-Lysine N-Methyltransferase/genetics , Humans , Hyperkalemia/etiology , Hypoglycemia/etiology , Lactic Acid/blood , Leukemia, Myeloid, Acute/complications , Leukocytosis/etiology , Myeloid-Lymphoid Leukemia Protein/genetics , Thrombocytopenia/etiologyABSTRACT
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.
Subject(s)
Barium Compounds/poisoning , Suicide, Completed , Adult , Electrocardiography , Female , Humans , Hypokalemia/chemically induced , Tachycardia/chemically inducedABSTRACT
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.
Subject(s)
Candida parapsilosis , Candidiasis/therapy , Emphysema/microbiology , Firmicutes , Gram-Positive Bacterial Infections/therapy , Pyelonephritis/microbiology , Time-to-Treatment , COVID-19/psychology , Candidiasis/diagnosis , Delayed Diagnosis , Emphysema/diagnosis , Emphysema/therapy , Fatal Outcome , Fear , Gram-Positive Bacterial Infections/diagnosis , Humans , Male , Middle Aged , Pandemics , Pyelonephritis/diagnosis , Pyelonephritis/therapy , SARS-CoV-2ABSTRACT
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.
ABSTRACT
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.
ABSTRACT
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.
Subject(s)
Adenoma/surgery , Ureteral Neoplasms/surgery , Ureteral Obstruction/surgery , Adenoma/complications , Adenoma/pathology , Adolescent , Humans , Ileum/surgery , Male , Reoperation , Ureteral Neoplasms/complications , Ureteral Neoplasms/pathology , Ureteral Obstruction/etiology , UreteroscopyABSTRACT
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.