Identification of aneuploidy in dogs screened by a SNP microarray

Sézary syndrome (SS) is a rare variant of primary cutaneous T-cell lymphoma. Little is known about the underlying pathogenesis of S. To address this issue, we used Affymetrix 10K SNP microarray to analyse 13 DNA samples isolated from 8 SS patients and qPCR with ABI TaqMan SNP genotyping assays for the validation of the SNP microarray results. In addition, we tested the impact of SNP loss of heterozygosity (LOH) identified in SS cases on the gene expression profiles of SS cases detected with Affymetrix GeneChip U133A. The results showed: (1) frequent SNP copy number change and LOH involving 1, 2p, 3, 4q, 5q, 6, 7p, 8, 9, 10, 11, 12q, 13, 14, 16q, 17, and 20, (2) reduced SNP copy number at FAT gene (4q35) in 75% of SS cases, and (3) the separation of all SS cases from normal control samples by SNP LOH gene clusters at chromosome regions of 9q31q34, 10p11q26, and 13q11q12. These findings provide some intriguing information for our current understanding of the molecular pathogenesis of this tumour and suggest the possibility of presence of functional SNP LOH in SS tumour cells.

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22. Masked hypodiploid B-Cell Lymphoblastic Leukemia (B-ALL) characterized by SNP microarray in a Li Fraumeni syndrome patient with post therapy karyotype changes

Cancer Genetics ◽

10.1016/j.cancergen.2021.01.033 ◽

2021 ◽

Vol 252-253 ◽

pp. S8

Author(s):

Mary M. Haag ◽

Billie Carstens ◽

Veronica McDaniel ◽

Alex Ohene-Mobley ◽

Jamie LeRoux ◽

...

Keyword(s):

B Cell ◽

Lymphoblastic Leukemia ◽

Syndrome Patient ◽

Li Fraumeni Syndrome ◽

Snp Microarray ◽

Li Fraumeni ◽

Post Therapy

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Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis

BMC Genomics ◽

10.1186/s12864-016-2370-6 ◽

2016 ◽

Vol 17 (1) ◽

Cited By ~ 11

Author(s):

Ruty Mehrian-Shai ◽

Michal Yalon ◽

Itai Moshe ◽

Iris Barshack ◽

Dvorah Nass ◽

...

Keyword(s):

Candidate Genes ◽

Digital Pcr ◽

Droplet Digital Pcr ◽

Snp Microarray ◽

Genomic Aberrations

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A Reappraisal of Superficial Pleomorphic Liposarcoma

American Journal of Clinical Pathology ◽

10.1093/ajcp/aqaa045 ◽

2020 ◽

Vol 154 (3) ◽

pp. 353-361

Author(s):

Scott Hilliard Berg ◽

Cathy Meade Massoud ◽

Colleen Jackson-Cook ◽

Sosipatros Alexander Boikos ◽

Steven Christopher Smith ◽

...

Keyword(s):

Genetic Alterations ◽

Pleomorphic Liposarcoma ◽

Genomic Changes ◽

Snp Microarray ◽

Genome Wide ◽

Genetic Features ◽

Atypical Cells ◽

Microarray Studies ◽

Gains And Losses

Abstract Objectives Superficial pleomorphic liposarcoma (PL) has a favorable prognosis compared to deeply seated PL. Given developments in the classification of lipomatous neoplasms, we reappraised a series of cases. Methods Retrospective clinicopathologic evaluation and genome-wide single-nucleotide polymorphism (SNP) microarray studies were performed for cases previously designated superficial PL. Results Four cases were identified (age, 48-70 years). Two were dermally confined, whereas two were superficial subcutaneous; no recurrences or metastases were reported. Tumors demonstrated pleomorphic spindled morphology with variable cellularity. Multivacuolated atypical lipoblasts were focal in 3 and abundant in 1. Dermal tumors demonstrated atypical cells within sclerotic collagen. Genome-wide SNP microarray studies revealed consistent gains and losses, including losses at the 13q14.2 locus encompassing RB1 and DLEU2 and deletion/disruption of the TP53 locus. Although subcutaneous examples showed genomic changes similar to deep PL, the dermal examples showed fewer genetic alterations, including changes reported in the spectrum of atypical spindle cell/pleomorphic lipomatous tumors (ASPLT). All lacked MDM2 amplification. Conclusions Careful integration of histologic and genetic features may improve classification of lipomatous neoplasms with atypia, allowing reclassification of some superficial PL as ASPLT.

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A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

Cytogenetic and Genome Research ◽

10.1159/000502598 ◽

2019 ◽

Vol 159 (1) ◽

pp. 19-25 ◽

Cited By ~ 1

Author(s):

Prabakaran Paulraj ◽

Michelle Bosworth ◽

Maria Longhurst ◽

Callie Hornbuckle ◽

Garrett Gotway ◽

...

Keyword(s):

Developmental Delay ◽

Autosomal Recessive ◽

Pediatric Population ◽

Homozygous Deletion ◽

Homozygous Mutation ◽

Biallelic Mutation ◽

Snp Microarray ◽

Low Level

The role of autosomal recessive (AR) variants in clinically heterogeneous conditions such as intellectual disability and developmental delay (ID/DD) has been difficult to uncover. Implication of causative pathogenic AR variants often requires investigation within large and consanguineous families, and/or identifying rare biallelic variants in affected individuals. Furthermore, detection of homozygous gene-level copy number variants during first-line genomic microarray testing in the pediatric population is a rare finding. We describe a 6.7-year-old male patient with ID/DD and a novel homozygous deletion involving the FRY gene identified by genomic SNP microarray. This deletion was observed within a large region of homozygosity on the long arm of chromosome 13 and in a background of increased low-level (2.6%) autosomal homozygosity, consistent with a reported common ancestry in the family. FRY encodes a protein that regulates cell cytoskeletal dynamics, functions in chromosomal alignment in mitosis in vitro, and has been shown to function in the nervous system in vivo. Homozygous mutation of FRY has been previously reported in 2 consanguineous families from studies of autosomal recessive ID in Middle Eastern and Northern African populations. This report provides additional supportive evidence that deleterious biallelic mutation of FRY is associated with ID/DD and illustrates the utility of genomic SNP microarray detection of low-level homozygosity.

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