Scholars@Duke
Rebeccah Catherine Rehder

Rebeccah Catherine Rehder

Associate Professor of Pathology
Pathology
catherine.rehder@duke.edu
Duke Box 3673, Durham, NC 27710
2351 Erwin Rd., Rm 213 Wadsworth Bldg., Durham, NC 27710

Selected Publications

Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

Journal Article Genes (Basel) · December 17, 2024 Background: The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure the competency and proficiency of clinical cytogenetic testing laboratories through proficiency testing (PT) pro ... Full text Link to item Cite

Sequential Development of JAK2V617F Mutation and BCR-ABL1 Fusion in Individual Patients With Myeloproliferative Neoplasms.

Journal Article Arch Pathol Lab Med · June 1, 2022 CONTEXT.—: Concomitant BCR-ABL1 and JAK2V617F in myeloproliferative neoplasms (MPNs) is rare, and its pathogenesis and clinical significance are unclear. OBJECTIVE.—: To investigate the clonal relationship between the 2 genomic alterations, as well as the ... Full text Link to item Cite

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma With Secondary Acquisition of t(11;14)(q13;q32)/CCND1-IGH: A Rare Variant Of Richter Transformation to Mantle Cell Lymphoma.

Journal Article Clin Lymphoma Myeloma Leuk · May 2022 INTRODUCTION: Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) occasionally undergoes Richter transformation, mostly to diffuse large B-cell lymphoma, but its evolution to other types of B-cell lymphoma is rare. We report a CLL evolved to ... Full text Link to item Cite

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Journal Article Genet Med · February 2022 Genomic testing, including single-nucleotide variation (formerly single-nucleotide polymorphism)-based chromosomal microarray and exome and genome sequencing, can detect long regions of homozygosity (ROH) within the genome. Genomic testing can also detect ... Full text Link to item Cite

Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy.

Journal Article Int J Neonatal Screen · January 28, 2022 Duchenne Muscular Dystrophy (DMD) is a fatal X-linked disorder with a birth prevalence of 19.8:100,000 males worldwide. Elevated concentration of the muscle enzyme creatine kinase-MM (CK-MM) allows for presymptomatic screening of newborns using Dried Blood ... Full text Link to item Cite

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Journal Article Front Genet · 2022 Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS) and novel variants identified in the ... Full text Link to item Cite

Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.

Journal Article Neuropediatrics · December 2021 Pompe's disease occurs due to an autosomal recessive trait resulting from numerous distinctive mutations in the GAA gene. It manifests as a broad spectrum of clinical phenotypes with progressive weakness that impairs motor and respiratory functions being c ... Full text Link to item Cite

Infantile leukemia-What factors determine its distinct biological nature? Clinicopathological study of 78 cases.

Journal Article Int J Lab Hematol · October 2021 INTRODUCTION: Infantile leukemia encompasses a heterogeneous group which needs stratifying for treatment selection. METHODS: We collected 78 cases of infantile leukemia and retrospectively analyzed their clinicopathological data. RESULTS: Infantile leukemi ... Full text Link to item Cite

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Journal Article Genet Med · August 2021 Next-generation sequencing (NGS) technologies are now established in clinical laboratories as a primary testing modality in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude. It is now cost- ... Full text Link to item Cite

Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.

Journal Article Circ Genom Precis Med · August 2021 Recent advances in next-genetic sequencing technology have facilitated an expansion in the use of exome and genome sequencing in the research and clinical settings. While this has aided in the genetic diagnosis of individuals with atypical clinical present ... Full text Link to item Cite

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Journal Article Mol Genet Genomic Med · July 2021 BACKGROUND: Currently available structural variant (SV) detection methods do not span the complete spectrum of disease-causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to inv ... Full text Link to item Cite

Early experience with universal preprocedural testing for SARS-CoV-2 in a relatively low-prevalence area.

Journal Article Infect Control Hosp Epidemiol · March 2021 We implemented universal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) testing of patients undergoing surgical procedures as a means to conserve personal protective equipment (PPE). The rate of asymptomatic coronavirus disease 2019 (COVID-19 ... Full text Open Access Link to item Cite

Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

Journal Article Arch Pathol Lab Med · February 1, 2021 CONTEXT.—: One goal of the joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee is to ensure the accurate detection and description of chromosomal abnormalities in both constitutional and neoplasti ... Full text Link to item Cite

A voluntary statewide newborn screening pilot for spinal muscular atrophy: Results from early check

Journal Article International Journal of Neonatal Screening · January 1, 2021 Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December 2020. ... Full text Cite

Assessment of an Online Tool to Simulate the Effect of Pooled Testing for SARS-CoV-2 Detection in Asymptomatic and Symptomatic Populations.

Journal Article JAMA Netw Open · December 1, 2020 This diagnostic study describes an online tool created with actual severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus copy number data to help policy makers understand how pooled testing compares with single-sample testing in different popu ... Full text Open Access Link to item Cite

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.

Journal Article Mol Genet Metab · July 2020 PURPOSE: Successful diagnosis of Fabry disease is often delayed or missed in patients, especially females, due to clinical heterogeneity and a lack of disease awareness. We present our experience testing for Fabry disease in high risk populations and discu ... Full text Link to item Cite

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.

Journal Article JAMA Netw Open · January 3, 2020 IMPORTANCE: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory demyelination in the central nervous system and to adrenal cortex atrophy. In 2016, X-ALD was ... Full text Link to item Cite

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

Journal Article J Pediatr · January 2020 OBJECTIVES: To evaluate the clinical and molecular spectrum, and factors affecting clinical outcome of patients in India diagnosed with infantile-onset Pompe disease (IOPD). STUDY DESIGN: In this multicenter, cross-sectional study, we evaluated the records ... Full text Link to item Cite

Sequential development of human herpes virus 8-positive diffuse large B-cell lymphoma and chronic myelomonocytic leukemia in a 59 year old female patient with hemoglobin SC disease.

Journal Article Pathol Res Pract · December 2019 Hematolymphoid neoplasms, including lymphoma and myeloid neoplasms, can occur in patients with sickle cell disease (SCD) or equivalent hemoglobinopathy, but an underlying connection between the two conditions has yet to be fully determined. Herein, we repo ... Full text Link to item Cite

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Journal Article J Pediatr · August 2019 OBJECTIVE: To evaluate the performance of a 2-tiered newborn screening method for mucopolysaccharidosis type I (MPS I) in North Carolina. STUDY DESIGN: The screening algorithm included a flow injection analysis-tandem mass spectrometry assay as a first-tie ... Full text Link to item Cite

Myeloid Neoplasms Following Solid Organ Transplantation: Clinicopathologic Studies of 23 Cases.

Conference Am J Clin Pathol · December 20, 2017 OBJECTIVES: Myeloid neoplasms (MNs) after solid organ transplant are rare, and their clinicopathologic features have not been well characterized. METHODS: We retrospectively analyzed 23 such cases. RESULTS: The ages ranged from 2 to 76 years, with a median ... Full text Link to item Cite

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Journal Article Mol Genet Metab · December 2017 Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmat ... Full text Link to item Cite

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

Journal Article Cold Spring Harb Mol Case Stud · September 2017 Hemimegalencephaly (HME) is a heterogeneous cortical malformation characterized by enlargement of one cerebral hemisphere. Somatic variants in mammalian target of rapamycin (mTOR) regulatory genes have been implicated in some HME cases; however, ∼70% have ... Full text Open Access Link to item Cite

Lineage Switch Between B-Lymphoblastic Leukemia and Acute Myeloid Leukemia Intermediated by "Occult" Myelodysplastic Neoplasm: Two Cases of Adult Patients With Evidence of Genomic Instability and Clonal Selection by Chemotherapy.

Journal Article American journal of clinical pathology · August 2017 ObjectivesLineage switch occurs in rare leukemias, and the mechanism is unclear. We report two cases of B-lymphoblastic leukemia (B-ALL) relapsed as acute myeloid leukemia (AML).MethodsRetrospective review of clinical and laboratory data. ... Full text Cite

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Journal Article JIMD Rep · 2017 Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructok ... Full text Link to item Cite

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.

Journal Article JIMD Rep · 2017 UNLABELLED: Glycogen storage disease (GSD) type IX is a rare disease of variable clinical severity affecting primarily the liver tissue. Individuals with liver phosphorylase b kinase (PhK) deficiency (GSD IX) can present with hepatomegaly with elevated ser ... Full text Link to item Cite

B-lymphoblastic leukemia in a patient with chronic lymphocytic leukemia: Sequential development of biclonal B-cell neoplasms over a 23-year period in a single individual.

Journal Article Pathol Res Pract · November 2016 Chronic lymphocytic leukemia (CLL) is an indolent mature B-cell neoplasm. During a prolonged disease course, a secondary B-cell neoplasm may arise in some patients, the most common example being the clonal evolution of CLL to diffuse large B-cell lymphoma, ... Full text Link to item Cite

Epstein-Barr virus-negative diffuse large B cell lymphoma with aberrant expression of CD3 and other T cell-associated antigens: report of three cases with a review of the literature.

Journal Article Ann Hematol · October 2016 Expression of CD3 on a mature B cell neoplasm, such as diffuse large B cell lymphoma (DLBCL), is extremely rare. When it is present, it will cause diagnostic confusion since the classification of lymphoid neoplasms is largely based on immunophenotyping to ... Full text Link to item Cite

Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.

Journal Article Pediatr Res · September 2016 BACKGROUND: The pathogenicity of copy number variations (CNV) in neurodevelopmental disorders is supported by research literature. However, few studies have evaluated the utility and counseling challenges of CNV analysis in clinic. METHODS: We analyzed the ... Full text Link to item Cite

Practical considerations in the clinical application of whole-exome sequencing.

Journal Article Clin Genet · February 2016 Despite the exciting advent of whole-exome sequencing (WES) in medical genetics practices, the optimal interpretation of results requires further actions such as reconsidering clinical information and obtaining further laboratory testing. There are no publ ... Full text Link to item Cite

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Journal Article Mol Genet Metab Rep · December 1, 2015 Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the gold ... Full text Link to item Cite

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Journal Article Genet Med · November 2015 PURPOSE: Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) prolongs survival in infantile Pompe disease (IPD). However, the majority of cross-reactive immunologic material (CRIM)-negative (CN) patients have immune responses ... Full text Link to item Cite

Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.

Journal Article J Neurosci · June 10, 2015 We identified a family in which a translocation between chromosomes X and 14 was associated with cognitive impairment and a complex genetic disorder termed "Genetic Epilepsy and Febrile Seizures Plus" (GEFS(+)). We demonstrate that the breakpoint on the X ... Full text Link to item Cite

T-cell prolymphocytic leukemia in a 63-year-old female with a pre-existing T-cell large granular lymphocytic leukemia: metachronous T-cell leukemias with discordant subset restrictions (CD4 versus CD8) and distinct clonal identities.

Journal Article Pathol Res Pract · December 2014 A 55-year-old female with T-cell large granular lymphocytic leukemia (T-LGL) (CD8+) was initially treated with anti-thymocyte globulin and then cyclosporine due to anemia/neutropenia. While the severity of cytopenia varied with the therapy, the T-LGL persi ... Full text Link to item Cite

Metachronous/concomitant B-cell neoplasms with discordant light-chain or heavy-chain isotype restrictions: evidence of distinct B-cell neoplasms rather than clonal evolutions.

Journal Article Hum Pathol · October 2014 Metachronous/concomitant B-cell neoplasms with distinct morphology are usually considered clonally related. We retrospectively analyzed 4 cases of metachronous/concomitant B-cell neoplasms with discordant light-chain/heavy-chain restrictions. The primary d ... Full text Link to item Cite

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

Journal Article JAMA Neurol · June 2014 IMPORTANCE: Isolated sulfite oxidase deficiency (ISOD) causes severe intellectual disability, epilepsy, and shortened life expectancy. Intractable seizures are invariable in children with ISOD; however, to our knowledge, infantile spasms with a correspondi ... Full text Link to item Cite

Composite lymphoid neoplasm of B-cell and T-cell origins: a pathologic study of 14 cases.

Journal Article Hum Pathol · April 2014 We retrospectively analyzed 14 composite lymphoma/lymphoid neoplasms (CL) of B-cell/T-cell origins. These consisted of a spectrum of T-cell neoplasms in combination with different B-cell lymphomas/leukemias, with peripheral T-cell lymphoma and diffuse larg ... Full text Link to item Cite

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Journal Article Mol Genet Metab · March 2014 Liver phosphorylase b kinase (PhK) deficiency (glycogen storage disease type IX), one of the most common causes of glycogen storage disease, is caused by mutations in the PHKA2, PHKB, and PHKG2 genes. Presenting symptoms include hepatomegaly, ketotic hypog ... Full text Link to item Cite

Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding.

Journal Article Genome Med · 2014 With the emergence of electronic medical records and patient portals, patients are increasingly able to access their health records, including laboratory reports. However, laboratory reports are usually written for clinicians rather than patients, who may ... Full text Link to item Cite

Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory.

Journal Article Hum Hered · 2014 The detection of consanguinity by the presence of multiple regions of homozygosity (ROH) is not an uncommon occurrence in clinical laboratories performing SNP microarray analysis. Reporting practices amongst laboratories are highly variable, due in part to ... Full text Link to item Cite

Response to Rosenberg et al.

Journal Article Genet Med · September 2013 Full text Link to item Cite

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.

Journal Article Genet Med · February 2013 Genomic testing, including single-nucleotide polymorphism-based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can in ... Full text Link to item Cite

Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

Journal Article PLoS One · 2013 OBJECTIVE: Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and de ... Full text Open Access Link to item Cite

Follicular lymphoma with prominent Dutcher body formation: a pathologic study of 3 cases in comparison with nodal or splenic lymphoplasmacytic lymphoma and marginal zone lymphoma.

Journal Article Hum Pathol · November 2012 Dutcher bodies have been described in lymphoid neoplasms with plasmacytic differentiation, including plasma cell myeloma, lymphoplasmacytic lymphoma, and marginal zone lymphoma. We report a pathologic study of 3 cases of follicular lymphoma with extensive ... Full text Link to item Cite

Report of a young girl with MYH9 mutation and review of the literature.

Journal Article J Pediatr Hematol Oncol · October 2012 MYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease. We present the case of a girl with MYH9-related disea ... Full text Open Access Link to item Cite

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 Enzyme replacement therapy (ERT) for Pompe disease using recombinant acid alpha-glucosidase (rhGAA) has resulted in increased survival although the clinical response is variable. Cross-reactive immunological material (CRIM)-negative status has been recogni ... Full text Link to item Cite

Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 Defining disease severity in patients with Pompe disease is important for prognosis and monitoring the response to therapies. Current approaches include qualitative and quantitative assessments of the disease burden, and clinical measures of the impact of ... Full text Link to item Cite

Phase II study of cenersen, an antisense inhibitor of p53, in combination with fludarabine, cyclophosphamide and rituximab for high-risk chronic lymphocytic leukemia.

Journal Article Leuk Lymphoma · February 2012 Patients with chronic lymphocytic leukemia (CLL) with deletion or mutation of TP53 have exceedingly poor clinical outcomes. Cenersen, an oligonucleotide targeting TP53, has been shown to abrogate the activity of TP53 gain-of-function mutants and to increas ... Full text Link to item Cite

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Journal Article Mol Genet Metab · December 2011 We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect. Most patients presented with isolated growth delay and diarrhea, prior to the oc ... Full text Link to item Cite

The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.

Journal Article Clin Lab Med · December 2011 Several new microdeletion and microduplication syndromes have been discovered in a genotype-first approach. Many of these disorders are caused by nonallelic homologous recombination between blocks of segmental duplication. The authors describe 9 regions fo ... Full text Link to item Cite

Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?

Journal Article Indian Pediatr · November 11, 2011 We report two cases which illustrate that enzyme assay results alone, may at times be equivocal and inconclusive in the prenatal diagnosis of storage disorders like Pompe disease and therefore, if the probands mutation is known, targeted mutation analysis ... Full text Link to item Cite

A small cell variant of ALK-positive, CD8-positive anaplastic large cell lymphoma with primary subcutaneous presentation mimicking subcutaneous panniculitis-like T-cell lymphoma.

Journal Article Pathol Res Pract · August 15, 2011 ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is an uncommon non-Hodgkin's lymphoma of T-cell origin, the majority of which express CD4 and show frequent pan-T-cell antigen loss. While most cases of ALK+ ALCL have the common pattern characterized ... Full text Link to item Cite

A copy number variation morbidity map of developmental delay.

Journal Article Nat Genet · August 14, 2011 To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. We estimate t ... Full text Link to item Cite

Donor cell-derived leukemias/myelodysplastic neoplasms in allogeneic hematopoietic stem cell transplant recipients: a clinicopathologic study of 10 cases and a comprehensive review of the literature.

Journal Article Am J Clin Pathol · April 2011 We report 10 cases of donor cell leukemia (DCL). All cases except the case of chronic lymphocytic leukemia had anemia, neutropenia, and/or thrombocytopenia when DCL was diagnosed. Eight cases with sex-mismatched hematopoietic stem cell transplant (HCT) sho ... Full text Link to item Cite

Sequential development of histiocytic sarcoma and diffuse large b-cell lymphoma in a patient with a remote history of follicular lymphoma with genotypic evidence of a clonal relationship: a divergent (bilineal) neoplastic transformation of an indolent B-cell lymphoma in a single individual.

Journal Article Am J Surg Pathol · March 2011 Follicular lymphoma (FL) often transforms to diffuse large B-cell lymphoma (DLBCL) during its protracted clinical course. Rarely, histiocytic sarcoma (HS) occurs secondary to or concurrent with FL, although the biological relationship between these 2 morph ... Full text Link to item Cite

Pseudo-Pelger-Huët anomaly induced by medications: a clinicopathologic study in comparison with myelodysplastic syndrome-related pseudo-Pelger-Huët anomaly.

Journal Article Am J Clin Pathol · February 2011 Pseudo-Pelger-Huët anomaly (PPHA) has been documented in association with transplant medications and other drugs. This iatrogenic neutrophilic dysplasia is reversible with cessation or adjustment of medications but is frequently confused with myelodysplast ... Full text Link to item Cite

Donor cell leukemia in umbilical cord blood transplant patients: a case study and literature review highlighting the importance of molecular engraftment analysis.

Journal Article J Mol Diagn · July 2010 Donor cell neoplasms are rare complications of treatment regimens that involve stem cell transplantation for hematological malignancies, myelodysplastic processes, or certain genetic or metabolic disorders. We report a case of donor cell leukemia in a pedi ... Full text Open Access Link to item Cite

Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.

Journal Article Genet Med · July 2010 PURPOSE: Glycogen Storage Disease Type III (limit dextrinosis; Cori or Forbes disease) is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme in liver and muscle (Glycogen Storage Disease Type ... Full text Link to item Cite

Histiocytic sarcoma arising in indolent small B-cell lymphoma: report of two cases with molecular/genetic evidence suggestive of a 'transdifferentiation' during the clonal evolution.

Journal Article Leuk Lymphoma · May 2010 The biologic relationship between small B-cell lymphoma and histiocytic sarcoma (HS) when occurring in the same patient remains unclear, though recent data suggest a possible 'transdifferentiation' from follicular lymphoma (FL) to HS. We investigated the c ... Full text Link to item Cite

Clinical and molecular predictors of disease severity and survival in chronic lymphocytic leukemia.

Journal Article Am J Hematol · December 2007 Several parameters may predict disease severity and overall survival in chronic lymphocytic leukemia (CLL). The purpose of our study of 190 CLL patients was to compare immunoglobulin heavy chain variable region (IgV(H)) mutation status, cytogenetic abnorma ... Full text Link to item Cite

Clinical experience with array CGH: case presentations from nine months of practice.

Journal Article Am J Med Genet A · October 1, 2006 A total of 124 individuals were tested in the initial 9 months that array CGH technology was offered to clinical genetics patients. In 11 of these patients array CGH identified a previously unsuspected diagnosis. A suspected diagnosis was confirmed in thre ... Full text Link to item Cite

Posttransplant lymphoproliferative disorder after umbilical cord blood transplantation in children.

Journal Article Am J Surg Pathol · March 2006 Reported are 7 cases of posttransplant lymphoproliferative disorder (PTLD) arising in children who received umbilical cord blood transplantation (UCBT). There were 4 females and 3 males with a median age of 3 years (range, 1-16 years). All 7 patients recei ... Full text Link to item Cite

Posttransplant lymphoproliferative disorder after umbilical cord blood transplantation in children

Journal Article American Journal of Surgical Pathology · 2006 Reported are 7 cases of posttransplant lymphoproliferative disorder (PTLD) arising in children who received umbilical cord blood transplantation (UCBT). There were 4 females and 3 males with a median age of 3 years (range, 1-16 years). All 7 patients recei ... Full text Cite

Human chromosomes with shorter telomeres and large heterochromatin regions have a higher frequency of acquired somatic cell aneuploidy.

Journal Article Mech Ageing Dev · August 2004 Both telomere shortening and increases in aneuploidy frequencies have been associated with aging. To test if these chromosomal attributes are correlated, chromosome-specific telomere lengths and aneuploidy frequencies were estimated and compared. Aneuploid ... Full text Link to item Cite

Adriamycin-induced senescence in breast tumor cells involves functional p53 and telomere dysfunction.

Journal Article J Biol Chem · September 20, 2002 Direct experimental evidence implicates telomere erosion as a primary cause of cellular senescence. Using a well characterized model system for breast cancer, we define here the molecular and cellular consequences of adriamycin treatment in breast tumor ce ... Full text Link to item Cite