Faculty Bibliography
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ARE WE UNDERESTIMATING THE PREVALENCE OF ANEUPLOIDY- RELATED MISCARRIAGES? A DESCRIPTION OF CYTOGENETIC RESULTS FROM PRODUCTS OF CONCEPTION (POC) AFTER DILATION AND CURETTAGE (D&C) [Meeting Abstract]
ISI:000281441000143
ISSN: 0015-0282
CID: 113764
A quantitative analysis of genomic instability in lymphoid and plasma cell neoplasms based on the PIG-A gene
It has been proposed that hypermutability is necessary to account for the high frequency of mutations in cancer. However, historically, the mutation rate (mu) has been difficult to measure directly, and increased cell turnover or selection could provide an alternative explanation. We recently developed an assay for mu using PIG-A as a sentinel gene and estimated that its average value is 10.6 x 10(-7) mutations per cell division in B-lymphoblastoid cell lines (BLCLs) from normal donors. Here we have measured mu in human malignancies and found that it was elevated in cell lines derived from T cell acute lymphoblastic leukemia, mantle cell lymphoma, follicular lymphoma in transformed phase, and 2 plasma cell neoplasms. In contrast, mu was much lower in a marginal zone lymphoma cell line and 5 other plasma cell neoplasms. The highest mu value that we measured, 3286 x 10(-7), is 2 orders of magnitude above the range we have observed in non-malignant human cells. We conclude that the type of genomic instability detected in this assay is a common but not universal feature of hematologic malignancies
PMCID:2834866
PMID: 20060400
ISSN: 0027-5107
CID: 109511
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development [Case Report]
Individuals with rare cytogenetic variants have contributed to our understanding of the genetics of sex development and its disorders. Here, we report on a child with a de novo 12;17 translocation, 46,XX,t(12;17)(q14.3;q24.3) chromosome complement, resulting in SRY-negative 46,XX testicular disorder of sex development (46,XX DSD without campomelic dysplasia). The chromosome 12 breakpoint was mapped via array comparative genomic hybridization (aCGH) of a hybrid somatic cell line to 64.2-64.6 Mb (from the p arm telomere). The chromosome 17 breakpoint was mapped to 66.4-67.1 Mb, that is, upstream of SOX9. The location of the chromosome 17 breakpoint was refined by fluorescence in situ hybridization (FISH) at > or =776 kb upstream of SOX9. Thus, the 12;17 translocation removed part of the SOX9 cis-regulatory region and replaced it with a regulatory element from pseudogene LOC204010 or the next gene, Deynar, of chromosome 12, potentially causing up-regulation of the testis-determining SOX9 gene during gonadal development and the phenotype of 46,XX testicular DSD
PMID: 20082466
ISSN: 1552-4825
CID: 106499
Journal of cellular & molecular medicine. 2009:13(9B):3898-905.DOI: 10.1111/j.1582-4934.2008.00541.x
Let-7 repression leads to HMGA2 overexpression in uterine leiomyosarcoma
Overexpression of HMGA2 is common in uterine leiomyomas (ULM). The expression of HMGA2 in its malignant counterpart - uterine leiomyosarcomas (ULMS) remains undetermined. Recently it has been shown that repression of HMGA2 by microRNA let-7s is a critical molecular regulatory mechanism associated with tumour growth in many tumours and cell types, including leiomyomas. To test whether HMGA2 and let-7s play a role in ULMS, we examined the levels of endogenous HMGA2 and let-7 expression and found a significant correlation between these two molecules in a case-matched cohort of human ULMS. We found that overexpression of HMGA2 and let-7-mediated HMGA2 repression is a relevant molecular alteration in ULMS. Disrupting the control of HMGA2 and let-7 pairs promotes ULMS cell growth in vitro
PMCID:4516537
PMID: 19602040
ISSN: 1582-4934
CID: 114731
Check Sample Abstracts
The following abstracts are compiled from Check Sample exercises published in 2008. These peer-reviewed case studies assist laboratory professionals with continuing medical education and are developed in the areas of clinical chemistry, cytopathology, forensic pathology, hematology, microbiology, surgical pathology, and transfusion medicine. Abstracts for all exercises published in the program will appear annually in AJCP
PMID: 19176368
ISSN: 1943-7722
CID: 138396
Primary Ewing sarcoma/PNET of the kidney: Fine-needle aspiration, histology, and dual color break apart FISH Assay [Case Report]
A 34-year-old previously healthy Hispanic man presented with lower back pain. CT scan revealed an 8-cm space-occupying lesion in the superior pole of the left kidney with numerous small lytic lesions in the skull, vertebrae, ribs, and pelvic bones. CT-guided fine-needle aspiration biopsy revealed a high-grade primitive small round cell tumor with the tumor cells being strongly positive for CD99 and vimentin. The patient subsequently underwent a left nephrectomy. Fluorescence in situ hybridization analysis using a DNA probe for the Ewing Sarcoma breakpoint region 1 (EWSR1) on chromosome 22g12 revealed a rearrangement of the EWSR1 locus. The diagnosis of primary Ewing sarcoma/primitive neuroectodermal tumor of the kidney was established. Diagn. Cytopathol. 2007;35:353-357. (c) 2007 Wiley-Liss, Inc
PMID: 17497665
ISSN: 8755-1039
CID: 72401
The origin and spatial distribution of chromosome 7q deletion and its association with tumor growth in large uterine leiomyomata [Meeting Abstract]
ISI:000234094501243
ISSN: 0893-3952
CID: 61440
Spatial differences in biologic activity of large uterine leiomyomata
OBJECTIVE: To evaluate the growth pattern of the large uterine leiomyomata (ULM), we examined the spatial gene distributions, vessel density, proliferative activity, and hyaline degeneration. DESIGN: Tissue sections from three-dimensional large ULM, matched myometrium, and small ULM were collected and microarrayed. The spatial difference of the tumor activity was mapped in large ULM. SETTING: University clinical research laboratory. PATIENT(S): Hysterectomy specimens from 7 patients with large (>10 cm) ULM and 3 patients with large (>10 cm) uterine leiomyosarcomas. INTERVENTION(S): Tissue microarray analysis by the immunohistochemistry. MAIN OUTCOME MEASURE(S): Selected gene products, vessel density, and the percentage of hyaline degeneration were all scored in tissue cores/sections of large and small ULM against matched myometrium. RESULT(S): We found that there was a spherical spatial difference of the tumor activities in large ULM. The tumor region next to the periphery, the most biologically active zone, demonstrated higher levels of gene expression, a higher density of vessels, a higher proliferative rate and a lower level of hyaline degeneration. The large ULM have higher levels of gene products (except for estrogen and progesterone receptors) than small ULM. CONCLUSION(S): In comparison of the spatial patterns of the gene activity between the large ULM and the large uterine leiomyosarcoma, the large ULM illustrate a growth pattern of nutritional dependence
PMID: 16412751
ISSN: 1556-5653
CID: 62116
Giant cell tumor of soft tissue with pulmonary metastases: pathologic and cytogenetic study [Case Report]
Giant cell tumor of soft tissue (GCTST) has gained general acceptance as an uncommon but distinct primary soft tissue tumor since it was first described in 1972. GCTST is predominantly seen in adults and typically shows uniformly dispersed osteoclast-like giant cells admixed with oval to polygonal mononuclear cells. It usually follows a benign clinical course, although the malignant variant has been described in cases in which the mononuclear cells demonstrate obvious dysplastic features. It is still not clear whether the two variants belong to the spectrum of the same tumor. No cytogenetic chromosomal abnormalities have been reported in the literature of GCTST. Interestingly, the osseous counterpart of giant cell tumor, which shares similar histologic features, quite often displays a telomeric association at the cytogenetic level, a finding that has never been reported in GCTST. We report the case of a 12-year-old girl with GCTST of the right leg that metastasized to the lung. Cytogenetic studies from the primary tumor showed the phenomenon of telomeric association involving multiple chromosomes
PMID: 16328671
ISSN: 1093-5266
CID: 61859
The risk of aneuploidy in fetuses with cystic hygroma diagnosed in first trimester in advanced maternal age compared with women younger than 35 years [Meeting Abstract]
ISI:000228065900095
ISSN: 0029-7844
CID: 52638
