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1.  Nodal involvement by marginal zone B-cell lymphoma harboring t(14;22)(q32;q11) involving immunoglobulin heavy chain and light chain lambda as the sole karyotypically recognizable abnormality in a patient with systemic lupus erythematosus 
Recurrent non-random balanced chromosomal translocation, usually involving the immunoglobulin heavy chain (IgH) gene or an immunoglobulin light chain gene and a proto-oncogene, which results in the overexpression of the latter under the control of an enhancer or promoter of the former, is a hallmark of many types of non-Hodgkin lymphoma (NHL) of B-cell origin. However, translocations between IgH and the immunoglobulin (Ig) light chain lambda gene (IgL), namely, a t(14;22)(q32;q11), have rarely been described in B-cell NHL. Herein we report the first case of marginal zone B-cell lymphoma harboring a t(14;22)(q32;q11) as its sole genetic abnormality in a patient with a 12-year history of systemic lupus erythematosus (SLE). Other interesting findings of this case include: 1) the neoplastic B-cells lack expression of both surface and cytoplasmic Ig light chain as revealed by flow cytometry and 2) monoclonal rearrangement of Ig light chain kappa (IgK) only due to k-deleting element (kde) recombination event. This case illustrates the necessity of utilizing a multi-modality approach in the diagnosis of B-cell NHL.
PMCID: PMC4152091  PMID: 25197401
t(14;22)(q32;q11); K-deleting element; marginal zone B-cell lymphoma; systemic lupus erythematosus
2.  A case of interdigitating dendritic cell sarcoma/histiocytic sarcoma – a diagnostic pitfall 
Interdigitating dendritic cell sarcoma (IDCS) and histiocytic sarcoma (HS) are two distinct rare hematolymphoid neoplasms, and HS derived from a likely pre-existing IDCS has never been reported in the English literature. Diagnosis of such entities in excised specimens is difficult, but becomes more difficult with the scant amount of materials obtained with fine needle aspiration (FNA) and core needle biopsy. Here we present an interesting and unique case of an IDCS located within a mesenteric mass, which was initially diagnosed as IDCS from the cytology of FNA and core needle biopsy specimens. After brief chemotherapy, the patient again developed abdominal pain, and a HS was diagnosed based on the excised segmental small intestinal specimen. While the exact relationship between the IDCS and HS cannot be ascertained, it is most likely that the HS is derived from the IDCS, although co-existing HS in addition to IDCS from the cytology specimen cannot be completely ruled out.
PMCID: PMC3885494  PMID: 24427360
Interdigitating dendritic cell sarcoma; histiocytic sarcoma; fine needle aspiration
3.  Global increases in both common and rare copy number load associated with autism 
Human Molecular Genetics  2013;22(14):2870-2880.
Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been documented. We examined CNV data from 516 individuals with autism or typical development from the population-based Childhood Autism Risks from Genetics and Environment (CHARGE) study. We interrogated 120 regions flanked by segmental duplications (genomic hotspots) for events >50 kbp and the entire genomic backbone for variants >300 kbp using a custom targeted DNA microarray. This analysis was complemented by a separate study of five highly dynamic hotspots associated with autism or developmental delay syndromes, using a finely tiled array platform (>1 kbp) in 142 children matched for gender and ethnicity. In both studies, a significant increase in the number of base pairs of duplication, but not deletion, was associated with autism. Significantly elevated levels of CNV load remained after the removal of rare and likely pathogenic events. Further, the entire CNV load detected with the finely tiled array was contributed by common variants. The impact of this variation was assessed by examining the correlation of clinical outcomes with CNV load. The level of personal and social skills, measured by Vineland Adaptive Behavior Scales, negatively correlated (Spearman's r = −0.13, P = 0.034) with the duplication CNV load for the affected children; the strongest association was found for communication (P = 0.048) and socialization (P = 0.022) scores. We propose that CNV load, predominantly increased genomic base pairs of duplication, predisposes to autism.
doi:10.1093/hmg/ddt136
PMCID: PMC3690969  PMID: 23535821
4.  Eye Movements When Reading Transposed Text: The Importance of Word-Beginning Letters 
Participants’ eye movements were recorded as they read sentences with words containing transposed adjacent letters. Transpositions were either external (e.g., problme, rpoblem) or internal (e.g., porblem, probelm) and at either the beginning (e.g., rpoblem, porblem) or end (e.g., problme, probelm) of words. The results showed disruption for words with transposed letters compared to the normal baseline condition, and the greatest disruption was observed for word-initial transpositions. In Experiment 1, transpositions within low frequency words led to longer reading times than when letters were transposed within high frequency words. Experiment 2 demonstrated that the position of word-initial letters is most critical even when parafoveal preview of words to the right of fixation is unavailable. The findings have important implications for the roles of different letter positions in word recognition and the effects of parafoveal preview on word recognition processes.
doi:10.1037/0096-1523.34.5.1261
PMCID: PMC2662926  PMID: 18823209
reading; eye movements; word recognition; transposed letters; parafoveal processing

Results 1-4 (4)