Scholars@Duke
Kristen Lee Deak

Kristen Lee Deak

Assistant Professor of Pathology
Pathology
kristen.deak@duke.edu
2351 Erwin Road, Wadsworth Building, Room 0213, Durham, NC 27705
2351 Erwin Road, Wadsworth Building, Room 0213, Durham, NC 27705

Selected Publications

Blast Phase of Myeloproliferative Neoplasm Resembles Acute Myeloid Leukemia, Myelodysplasia-Related, in Clinical Presentation, Cytogenetic Pattern, and Genomic Profile, and Often Undergoes Reversion to Second Chronic Phase Status After Induction Chemotherapy.

Journal Article Arch Pathol Lab Med · December 1, 2024 CONTEXT.—: BCR::ABL-negative myeloproliferative neoplasm (MPN) has a prolonged clinical course, and some cases eventually undergo transformation to blast phase; its pathogenesis remains to be elucidated. OBJECTIVE.—: To evaluate the clinicopathologic chara ... Full text Link to item Cite

The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.

Journal Article HGG Adv · July 18, 2024 Biallelic loss-of-function variants in the MUSK gene result in two allelic disorders: (1) congenital myasthenic syndrome (CMS; OMIM: 616325), a neuromuscular disorder that has a range of severity from severe neonatal-onset weakness to mild adult-onset weak ... Full text Link to item Cite

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.

Journal Article Genet Med Open · 2024 PURPOSE: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has not yet ... Full text Link to item Cite

Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

Journal Article Am J Med Genet A · November 2023 Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants have been reported to demonstrate a phenotype of eye abn ... Full text Link to item Cite

Chronic Lymphocytic Leukemia With Two B-Cell Populations of Discordant Light Chain Restrictions in Individual Patients: Parallel Development of Biclonal B-Cell Neoplasms or Clonal Evolution With Isotype Switch?

Journal Article Am J Clin Pathol · April 4, 2023 OBJECTIVES: To evaluate clinicopathologic characteristics of biclonal chronic lymphocytic leukemia (CLL). METHODS: Retrospectively analyze clinical data and pathologic features. RESULTS: Ten cases were identified in which flow cytometry demonstrated an abn ... Full text Link to item Cite

Automated next-generation profiling of genomic alterations in human cancers.

Journal Article Nat Commun · May 20, 2022 The lack of validated, distributed comprehensive genomic profiling assays for patients with cancer inhibits access to precision oncology treatment. To address this, we describe elio tissue complete, which has been FDA-cleared for examination of 505 cancer- ... Full text Link to item Cite

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.

Journal Article Mol Genet Metab Rep · December 2021 INTRODUCTION: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients ... Full text Open Access Link to item Cite

Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution.

Journal Article J Mol Diagn · October 2021 Genomic tumor profiling by next-generation sequencing (NGS) allows for large-scale tumor testing to inform targeted cancer therapies and immunotherapies, and to identify patients for clinical trials. These tests are often underutilized in patients with lat ... 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

An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.

Journal Article J Pediatr Genet · March 2021 Cat eye syndrome (CES) is a rare genetic defect, characterized by iris colobomas, preauricular skin tags, and anal malformations. Affecting 1 in 150,000 people, this defect is caused by duplication or triplication of the proximal long (q) arm of chromosome ... Full text Link to item Cite

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.

Journal Article Genet Med · July 2020 PURPOSE: Guidelines by professional organizations for assessing variant pathogenicity include the recommendation to utilize biologically relevant transcripts; however, there is variability in transcript selection by laboratories. METHODS: We describe three ... Full text Link to item Cite

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Journal Article Hum Mutat · March 2020 Congenital disorders of glycosylation (CDGs) comprise a large number of inherited metabolic defects that affect the biosynthesis and attachment of glycans. CDGs manifest as a broad spectrum of disease, most often including neurodevelopmental and skeletal a ... Full text Link to item Cite

Pulmonary Granular Cell Tumors: A Study of 4 Cases Including a Malignant Phenotype.

Journal Article The American journal of surgical pathology · October 2019 Granular cell tumors are lesions of Schwannian phenotype that most frequently arise in the skin, breast, and tongue. Pulmonary granular cell tumors (pGCTs) are exceedingly rare and only a handful of cases worldwide have been reported as malignant. We repor ... Full text Cite

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Journal Article Hum Mol Genet · July 15, 2018 The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. ... Full text Link to item Cite

Composite lymphoma of follicular B-cell and peripheral T-cell types with distinct zone distribution in a 75-year-old male patient: a case study.

Journal Article Hum Pathol · June 2018 Composite lymphoma of T-/B-cell type is rare, and follicular lymphoma composite with peripheral T-cell lymphoma (PTCL) has not previously been reported. We report such a case with both neoplastic components displaying a unique zone of distribution. A 75-ye ... Full text Link to item Cite

False positives in multiplex PCR-based next-generation sequencing have unique signatures.

Journal Article J Mol Diagn · September 2014 Next-generation sequencing shows great promise by allowing rapid mutational analysis of multiple genes in human cancers. Recently, we implemented the multiplex PCR-based Ion AmpliSeq Cancer Hotspot Panel (>200 amplicons in 50 genes) to evaluate EGFR, KRAS, ... Full text Link to item Cite

Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency.

Journal Article Arch Dermatol · January 2012 BACKGROUND: Several forms of ichthyosis are associated with neurologic manifestations, including Sjögren-Larsson syndrome, Refsum disease, and mental retardation-enteropathy-deafness-neuropathy-ichthyosis-keratoderma (MEDNIK) syndrome. We report a case of ... 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

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.

Journal Article Neurology · November 25, 2008 BACKGROUND: Native American myopathy (NAM) is an autosomal recessive congenital myopathy first reported in the Lumbee Indian people. Features of NAM include congenital weakness, cleft palate, ptosis, short stature, and susceptibility to malignant hyperther ... Full text Link to item Cite

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.

Journal Article Birth Defects Res A Clin Mol Teratol · October 2008 BACKGROUND: Neural tube defects (NTDs), including spina bifida and anencephaly, are the second most common birth defect with an incidence of 1/1000. Genetic factors are believed to contribute to NTD risk and family-based studies can be useful for identifyi ... Full text Link to item Cite

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.

Journal Article Neurology · February 20, 2007 BACKGROUND: In the majority of facioscapulohumeral muscular dystrophy (FSHD) cases, the molecular basis of the disease is due to loss of subtelomeric D4Z4 repeat units at 4q35. Occasionally, an apparent absence of the contracted D4Z4 repeat is associated w ... Full text Link to item Cite

Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.

Journal Article Environ Health Perspect · October 2006 BACKGROUND: Folate metabolism pathway genes have been examined for association with neural tube defects (NTDs) because folic acid supplementation reduces the risk of this debilitating birth defect. Most studies addressed these genes individually, often wit ... Full text Link to item Cite

Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.

Journal Article Birth Defects Res A Clin Mol Teratol · November 2005 BACKGROUND: Vitamin A (retinol), in the form of retinoic acid (RA), is essential for normal development of the human embryo. Studies in the mouse and zebrafish have shown that retinol is metabolized in the developing spinal cord and must be maintained in a ... Full text Link to item Cite

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.

Journal Article Hum Genet · July 2005 Neural tube defects (NTDs) are common birth defects, occurring in approximately 1/1,000 births; both genetic and environmental factors are implicated. To date, no major genetic risk factors have been identified. Throughout development, cell adhesion molecu ... Full text Link to item Cite