Real world predictors of response and 24-month survival in high-grade TP53-mutated myeloid neoplasms.

Current therapies for high-grade TP53-mutated myeloid neoplasms (≥10% blasts) do not offer a meaningful survival benefit except allogeneic stem cell transplantation in the minority who achieve a complete response to first line therapy (CR1). To identify reliable pre-therapy predictors of complete response to first-line therapy (CR1) and outcomes, we assembled a cohort of 242 individuals with TP53-mutated myeloid neoplasms and ≥10% blasts with well-annotated clinical, molecular and pathology data. Key outcomes examined were CR1 & 24-month survival (OS24).

Clinical implications of additional chromosomal abnormalities in adult acute myeloid leukemia with inv (16)/t(16;16)/CBFB::MYH11.

Objectives: This study assesses the clinical significance of additional cytogenetic abnormalities (ACAs) and/or the deletion of 3'CBFB (3'CBFB) resulting in unbalanced CBFB::MYH11 fusion in acute myeloid leukemia (AML) with inv (16)/t(16;16)/CBFB::MYH11.

Methods: We retrospectively evaluated the clinicopathologic features of 47 adult de novo AML with inv (16)/t(16;16)/CBFB::MYH11 fusion. There were 44 balanced and 3 unbalanced CBFB::MYH11 fusions.

Prognostic significance of copy number gains of detected by fluorescence hybridization in large B-cell lymphoma.

The protooncogene plays a critical role in many cellular processes. translocations are recurrent in large B-cell lymphomas (LBCLs) where they exhibit a negative effect on survival. Gain of copies is also frequently identified; however, there is no consensus on the frequency and prognostic significance of copy gains.

Many faces of SF3B1-mutated myeloid neoplasms: concurrent mutational profiles contribute to the diverse clinical and morphologic features.

Splicing factor SF3B1 mutation occurs in 20-30% of myelodysplastic syndrome (MDS) and myelodysplasia/myeloproliferative neoplasm (MDS/MPN), particularly those with ring sideroblasts (RS), and rarely in acute myeloid leukemia (AML). In this study, we performed a comprehensive evaluation of 77 SF3B1-mutated myeloid neoplasms (45 MDS, 18 MDS/MPN, 13 AML, and 1 MPN), including their clinical presentations, morphologic features, cytogenetic studies, and targeted next-generation sequencing. Our study demonstrated that concurrent gene mutations were very different in SF3B1-mutated MDS, MDS/MPN, and AML.

Distinctive Flow Cytometric and Mutational Profile of Acute Myeloid Leukemia With t(8;16)(p11;p13) Translocation.

Objectives: Acute myeloid leukemia (AML) with t(8;16)(p11;p13) abnormalities is a rare, aggressive, and diagnostically challenging subtype that results in KAT6A-CREBBP gene fusion.

Methods: To investigate their immunophenotype and genomic features, we identified 5 cases of AML with t(8;16) through a retrospective review of the databases at Northwestern Memorial Hospital in Chicago, IL, and Washington University Medical Center, in St Louis, MO.

Results: In all, 4 of 5 cases were therapy related and 1 was possibly therapy related.

Utility of Flow Cytometry of Bronchoalveolar Lavage in the Diagnosis of T and NK Cell Malignancies in Critically Ill Patients.

Objective: The value of bronchoalveolar lavage (BAL) in the diagnosis of pulmonary diseases of diverse etiologies is widely accepted. Cytospin and cell-block preparations for cytomorphological (CM) evaluation and for immunohistochemical studies are the standard method to evaluate BAL, though it may be time-consuming. Flow cytometric (FC) evaluation, on the other hand, has a short turnaround time, and is a useful methodology to differentiate reactive processes from hematological neoplasms, or detect a small aberrant population in an inflammatory background.

Tryptase Positivity in Chronic Myeloid Leukemia With Marked Basophilia.

Chronic myeloid leukemia (CML) is the most common chronic myeloproliferative disorder, which was the first to be described and understood at a molecular level. Marked basophilia can be seen in CML and other neoplastic and reactive processes. Tryptase is a serine protease that is mainly expressed in mast cells, whereas basophils express only trace amounts of the enzyme.

Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations.

Poorly differentiated thyroid carcinomas (PDTC) in young individuals are rare and their clinical and histopathologic features, genetic mechanisms, and outcomes remain largely unknown. Here, we report a detailed characterization of a series of six PDTC in patients ≤21 years old defined by Turin diagnostic criteria studied for mutations and gene fusions characteristic of thyroid cancer using targeted next-generation sequencing (NGS) and whole-exome sequencing (WES). All tumors had solid, insular, or trabecular growth pattern and high mitotic rate, and five out of six tumors showed tumor necrosis.

Immunophenotypic Variations in Mantle Cell Lymphoma and Their Impact on Clinical Behavior and Outcome.

Context.—: Immunophenotypic variations in mantle cell lymphoma (MCL) from the classic CD5/CD10/CD23/FMC-7 immunophenotype have been reported in the literature, but correlation with clinical behavior and outcome has not been fully studied.

Objective.

Are micromegakaryocytes specific for refractory cytopenia of childhood (RCC)? A study of 38 pediatric patients with thrombocytopenia unrelated to RCC.

Background: Micromegakaryocytes (microMKs) are considered the most reliable dysplastic feature for myelodysplastic syndrome (MDS), particularly refractory cytopenia of childhood (RCC); there is no minimal threshold for the diagnosis of RCC. Since most RCC patients present with thrombocytopenia, the presence of microMKs should raise concern for MDS/RCC. This study attempted to investigate the prevalence of microMKs and associated marrow fibrosis in patients with thrombocytopenia unrelated to MDS/RCC and the need for establishing a threshold for microMKs for the diagnosis of MDS/RCC.

Lambda Immunoglobulin Light Chain Restricted B Cells in the Ascitic Fluid in Association with Terminal Ileal Florid Follicular Hyperplasia.

Distinguishing reactive changes from neoplastic processes during lymphoid tissue evaluation is oftentimes difficult. Ancillary studies, such as flow cytometry, may aid the diagnosis by demonstrating monotypic or polytypic light chain expression on the B cells. The detection of immunoglobulin light chain restricted B cell population is considered a surrogate marker of clonality, which can be confirmed by molecular assays.

Primary splenic angiosarcoma associated with anemia, leukocytosis and thrombocytopenia.

Primary angiosarcoma of the spleen is a rare neoplasm arising from endothelial cells. It is an aggressive neoplasm with a poor prognosis. We report a case of 61-year-old Caucasian man who presented with shortness of breath, anemia, leukocytosis, and thrombocytopenia.

Implementation of a quality improvement program to improve sweat test performance in a pediatric hospital.

Context: All positive screening of newborns for cystic fibrosis using the dried blood spot 2-tiered immunoreactive trypsinogen/DNA method requires subsequent sweat chloride testing for confirmation. Obtaining an adequate volume of sweat to measure chloride is a challenge for many cystic fibrosis centers across the nation. The standard for patients older than 3 months is less than 5% quantity not sufficient (QNS) and for patients 3 months or younger is less than 10% QNS.

Post cardiac transplantation T-cell lymphoproliferative disorder presenting as a solitary lung nodule.

Post-transplantation lymphoproliferative disorder (PTLD) is an infrequent, but serious complication of solid organ and bone marrow transplantations. The vast majority of the cases are of B-cell origin and usually associated with Epstein-Barr virus (EBV) infection. The non-B (T and NK cell) PTLDs account for up to 14% of the PTLD cases in Western countries.

Neoplastic and nonneoplastic ovarian masses: Diagnosis on cytology.

Objective: To evaluate the role of fine needle aspiration cytology (FNAC) in the distinction between neoplastic and nonneoplastic ovarian masses.

Materials And Methods: One hundred and twenty patients with ovarian masses were studied. After detailed history and clinical examination, ultrasound (USG)-guided FNAC was performed in 92 clinical benign cases while FNAC and/or imprints of surgically resected ovarian masses was performed in 28 clinically suspected malignant cases.