B-Lymphoblastic Leukemia with BCR::ABL1-like Features After Long-term Lenalidomide Therapy.

Lenalidomide, a derivative of thalidomide, is a type of immunomodulatory drug (IMiD) that has been standard therapy for multiple myeloma (MM) and other hematologic malignancies for almost two decades. The success of these drugs in MM has contributed to increased survival of patients and, as a result, patients are at risk for a secondary primary malignancy (SPM), some of which occur as a result of treatment for MM. MM patients have an increased risk for acute myeloid leukemia (AML) and Kaposi sarcoma.

Perifollicular concentric granulomas: A clue to IgG4-related lymphadenopathy.

A 69-year-old with well-controlled HIV was evaluated for persistent cough, in the context of years of fatigue and influenza A infection 6 months prior. Chest CT and PET scans were notable for adenopathy concerning for a lymphoproliferative disorder. Radiologic studies also showed diffuse FDG uptake in the prostate, consistent with prostatitis.

Novel ELANE Mutation Associated with a Clinical Presentation of Cyclic Neutropenia.

Congenital neutropenia, defined by absolute neutrophil count (ANC) 2.5x109/L in infants, includes a variety of genotypic alterations that manifest with chronic immunodeficiency and, as a result, presents in infancy with recurrent infections. The gene that encodes neutrophil elastase, ELANE, has pathological variants yielding two distinct phenotypes: severe congenital neutropenia (SCN) and cyclic neutropenia (CyN).

Pediatric Myelodysplastic Syndrome with SF3B1 Mutation.

Patients with Fanconi Anemia (FA) have an increased risk of developing myeloid malignancies, which often precede the diagnosis of FA. We describe a patient with non-specific clinical findings diagnosed with myelodysplastic syndrome (MDS) at 17 years of age. A pathogenic SF3B1 alteration was identified and prompted evaluation for a bone marrow failure syndrome.

What's in a Name? The Many Classifications of Acute Myeloid Leukemia with Dysplasia.

Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a high-risk subtype of AML that has recently undergone significant reclassification. Proper classification requires the integration of clinical history and diagnostic studies including peripheral blood and bone marrow morphology, flow cytometry, cytogenetic and molecular studies. The latter have significant clinical and prognostic implications.

Myelodysplastic Syndrome with Excess Blasts 2 (MDS-EB-2): A Historical Overview and Review of Forthcoming Classifications.

Myelodysplastic syndrome with excess blasts-2 (MDS-EB-2) primarily affects adults older than 50 years and confers a worse prognosis with a higher risk of transformation to acute myeloid leukemia (AML) compared to myelodysplastic syndrome (MDS) and MDS with excess blasts-1 (MDS-EB-1). In ordering diagnostic studies for MDS, cytogenetic and genomic studies are vital as they have significant clinical and prognostic implications for the patient. We present a case of a 71-year-old male diagnosed with MDS-EB-2 with a pathogenic loss-of-function TP53 variant and discuss presentation, pathogenesis, and the importance of thorough diagnostic testing through multiple modalities to accurately diagnose and subtype MDS.

Acute Myeloid Leukemia with Myelodysplasia-Related Changes Presenting as Vitamin B12 Deficiency: A Cautionary Tale.

Acute myeloid leukemia may present with significant dysmyelopoiesis within the peripheral blood smear and bone marrow aspirate. In the setting of Vitamin B12 deficiency, proliferation of a clonal population of malignant cells can become impaired, masking an underlying myelodysplastic or leukemic process. Typically, the cautionary tale warns against diagnosing acute myeloid leukemia before ruling out Vitamin B12 deficiency.

BCR-ABL1-like B-lymphoblastic leukemia/lymphoma: Review of the entity and detection methodologies.

BCR-ABL1-like B-lymphoblastic leukemia/lymphoma (BCR-ABL1-like ALL or Ph-like ALL) is a neoplastic proliferation of lymphoblasts that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.

Clinicopathologic Features and Clinical Outcome Differences in De Novo Versus Secondary Histiocytic Sarcomas: A Multi-institutional Experience and Review of the Literature.

Introduction: Histiocytic sarcoma (HS) is a rare malignant neoplasm that can occur in patients with a history of treatment for hematologic or solid tumors. Because no optimal treatment has been defined and standardized, the treatment modalities used and outcomes reported have been highly variable. In the present study, 3 major institutions explored the clinicopathologic features of de novo and secondary HS.

Lyme Disease Testing in a High-Incidence State: Clinician Knowledge and Patterns.

Objectives: Lyme disease (LD) incidence is increasing, but data suggest some clinicians are not fully aware of recommended procedures for ordering and interpreting diagnostic tests. The study objective was to assess clinicians' knowledge and practices regarding LD testing in a high-incidence region.

Methods: We distributed surveys to 1,142 clinicians in the University of Vermont Medical Center region, of which 144 were completed (12.

Transient monoclonal gammopathy induced by Candida fungemia.

A 41-year-old woman was admitted for Candida fungemia. On hospital day 4, a routine complete blood count and peripheral smear showed circulating plasma cells. Initial workup showed an M-component on serum protein electrophoresis with 6% λ-predominate plasma cells by flow cytometry.

Transition to Subspecialty Sign-Out at an Academic Institution and Its Advantages.

Many pathology departments are introducing subspecialty sign-out in surgical pathology. In 2014, the University of Vermont Medical Center transitioned from general sign-out to partial subspecialty sign-out to include gastrointestinal and breast/cervix subspecialty benches; other specimens remained on general benches. Our experiences with the transition are described, including attending pathologist, trainee, support staff, and clinician satisfaction.

Myeloid Neoplasms with t(5;12) and ETV6-ACSL6 Gene Fusion, Potential Mimickers of Myeloid Neoplasm with PDGFRB Rearrangement: Case Report with Imatinib Therapy and Review of the Literature.

We report the second case of ETV6-ACSL6 associated myeloproliferative neoplasm that has received a full course of imatinib therapy. The patient was a 51-year-old previously healthy man who presented with three months of worsening dyspnea and was found to have a white count of 216,000/cmm, of which 84% were eosinophil lineage. Cytogenetic analysis revealed a t(5;12)(q31~33;p13).

Fetal Tissue Procurement for Karyotype Analysis: Clinician or Pathologist - Which is Better?

Unlabelled: Chromosomal abnormalities are detected in up to 13% of stillbirths and over 20% of those with developmental anomalies. These estimates may be low since up to 50% of samples fail to achieve a result due to microbial overgrowth or nonviability. Tissue for cytogenetics can be procured at bedside by the clinician or by the pathologist in the laboratory.

Sarcomatoid renal cell carcinoma is an example of epithelial--mesenchymal transition.

Background: Sarcomatoid renal cell carcinomas (SRCC) are composed of two cell populations, a sarcomatous component (SC) and a carcinomatous component (CC). SRCC are particularly aggressive and often present at an advanced stage at diagnosis. Epithelial-mesenchymal transition (EMT) has been proposed as a mechanism for the development of SC from CC.