Immunohistochemistry for LEF1 and SOX11 adds diagnostic specificity in small B-cell lymphomas.

Lymphocyte enhancer-binding factor 1 (LEF1) and SRY-Box 11 (SOX11) are highly sensitive and specific for chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL) and mantle cell lymphoma (MCL) including the cyclin D1-negative subtype, respectively. We assessed the utility of these markers in a large cohort of small B-cell lymphomas (SBCLs) on varied sample types. Immunohistochemistry (IHC) was performed for LEF1 and SOX11 on 354 SBCLs (129 CLL/SLLs, 33 MCLs, 142 marginal zone lymphomas [MZLs]-nodal MZL [NMZL]: 40, extranodal MZL [ENMZL]: 28, splenic MZL [SMZL]: 74 cases-and 50 lymphoplasmacytic lymphomas [LPLs]/Waldenstrom macroglobulinemias [WMs]).

Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing.

Complex insertion-deletion (indel) events in the globin genes manifest in widely variable clinical phenotypes. Many are incompletely characterized because of a historic lack of efficient methods. A more complete assessment enables improved prediction of clinical impact, which guides emerging therapeutic choices.

Interpreting sulfhemoglobin and methemoglobin in patients with cyanosis: An overview of patients with M-hemoglobin variants.

Introduction: Methemoglobin (MetHb) and sulfhemoglobin (SHb) measurements are useful in the evaluation of cyanosis. When one or both values are elevated, additional analysis is important to establish the etiology of the disorder. Methemoglobinemia occurs from acquired or hereditary causes with diverse treatment considerations, while true sulfhemoglobinemia is only acquired and treatment is restricted to toxin removal.

Genetic and Clinical Studies of Patients With Increased Multinucleated Megakaryocytes in Bone Marrow as an Isolated Finding: A Diagnostic Pitfall for Myelodysplastic Syndrome.

The presence of increased multinucleated megakaryocytes (aka osteoclast-like) is considered a dysplastic feature in myelodysplastic syndrome; however, its clinical significance in isolation is uncertain. Herein, we report the clinicopathologic and genetic features of 18 such cases of 40,539 bone marrow biopsies spanning 10 years. All 18 patients had ≥25% multinucleated megakaryocytes in otherwise normal bone marrow biopsies, which were evaluated for plasma cell neoplasms (n=9), lymphoma (n=4), or anemia/neutropenia (n=5).

Further Characterization of Hb Bronovo [α103(G10)His→Leu; : c.311A>T] and First Report of the Homozygous State.

Hb Bronovo [α103(G10)His→Leu, : c.311A>T] is an α-globin variant that interferes with and decreases binding efficiency to α hemoglobin (Hb) stabilizing protein (AHSP), a chaperone molecule. The histidine residue at position 103 is integral to the AHSP hydrogen bond formation where disruption results in an increased quantity of cytotoxic free α-globin chains, thereby creating a similar pathophysiology as β-thalassemia (β-thal).

Mixed-phenotype large granular lymphocytic leukemia: a rare subtype in the large granular lymphocytic leukemia spectrum.

Large granular lymphocytic leukemia (LGLL) is a chronic proliferation of cytotoxic lymphocytes in which more than 70% of patients develop cytopenia(s) requiring therapy. LGLL includes T-cell LGLL and chronic lymphoproliferative disorder of natural killer (NK) cells. The neoplastic cells in LGLL usually exhibit a single immunophenotype in a patient, with CD8-positive/αβ T-cell type being the most common, followed by NK-cell, γδ T-cell, and CD4-positive/αβ T-cell types.

Nodular Lymphocyte Predominant Hodgkin Lymphoma of the Ileum.

Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare lymphoma derived from germinal center B lymphocytes that typically presents with localized lymph node involvement and can mimic a variety of both reactive and other neoplastic conditions. Extranodal involvement is uncommon in NLPHL and typically occurs in the context of previously documented or synchronous nodal disease. Involvement of the gastrointestinal tract is exceedingly rare.

BCR-JAK2 fusion in a myeloproliferative neoplasm with associated eosinophilia.

Janus kinase 2 (JAK2) is located on chromosome 9 at band p24 and JAK2V617F is the most common mutation in Philadelphia chromosome-negative myeloproliferative neoplasms (Ph-MPN). However, rearrangement of JAK2 is a rare event. We report a case of myeloproliferative neoplasm, unclassifiable (MPN-U) with BCR-JAK2 fusion confirmed by molecular studies.

Clinical and laboratory issues associated with persistent low-level elevations of hCG in a female of childbearing age.

Persistent low-level elevations of serum concentrations of hCG in a non-pregnant female of childbearing age were investigated by a number of laboratory techniques including heterophile blocking reagents, polyethylene glycol precipitation, serial dilutions and hCG measurements on several different instrument/reagent systems. The results of these studies indicated that this patient had immunoreactive hCG in her serum that was not the intact hCG molecule but primarily the free β-hCG subunit. Differential diagnoses are discussed along with recommendation for continued surveillance of serum hCG concentrations.

Aberrant crypt focus and fragile histidine triad protein in sporadic colorectal carcinoma.

Aim: To characterize aberrant crypt focus (ACF) in adjoining mucosa in sporadic colorectal carcinoma and to evaluate fragile histidine triad (Fhit) protein and Ki67.

Methods: ACF was identified grossly and classified histologically in 75 resected specimens. ACF was typed into hyperplastic ACF (HACF) and dysplastic ACF (DACF).

β-Thalassemia mutations in subjects with borderline HbA₂ values: a pilot study in North India.

Background: Interpreting hemoglobin high performance liquid chromatograms with borderline HbA₂ values is often problematic, especially in antenatal cases if the partner is a known thalassemia trait.

Methods: We tested for underlying β-thalassemia mutations in 25 subjects with borderline HbA₂ values (between 3.0%-4.

Florid plasmacytosis in a case of acute myeloid leukemia: A diagnostic dilemma.

The association of acute myeloid leukemia (AML) with plasmacytosis is a known, although rare event. There are very few case reports documenting an increase in the number of plasma cells at the time of AML diagnosis. Here, we present the case of a 65-year-old male diagnosed as acute myelomonocytic leukemia with exuberant plasmacytosis, which posed a difficulty in diagnosis.

Ascitic fluid cytology and flow cytometry in the primary diagnosis of lymphoma - a case report.

Primary diagnosis of lymphomas from ascitic fluid is rare. We report a case in which a patient being worked up as a case of carcinoma head of pancreas turned out to be a lymphoma on routine ascitic fluid examination and was further sub-classified as a CD 10+ B-cell lymphoma on flow cytometric analysis.

Utility of family studies in diagnosing abnormal hemoglobins/thalassemic states.

Objective: To resolve all indeterminate cases on HPLC screening with the help of family studies and to further confirm the results by genetic analysis.

Methods: In our 11 years experience with HPLC at Sir Ganga Ram Hospital, we solved many cases with the help of family studies on parental blood samples in which patient could have possibly been homozygous vs compound heterozygous. Genetic analysis was done on index case as well as on parental samples with ARMS-PCR technique to confirm the results.

The role of immunohistochemistry in medullomyoblastoma--a case series highlighting divergent differentiation.

Aims: To analyse the histo-morphology of cases of medullomyoblastoma and identifying its divergent differentiation.

Methods: A retrospective review of all cases reported as medulloblastoma between the period of Jan 2000 to Dec 2006 was carried out on Hematoxylin and eosin (H & E) stained slides. The cases were screened on light microscopy for primitive neuroectodermal component of a medulloblastoma accompanied by areas of "myoid" differentiation, identified on the basis of presence of strap cells (indicating a clear skeletal muscle differentiation) and/or large anaplastic cells with vescicular nuclei and moderate to abundant amount of eosinophilic cytoplasm.