Colton Smith
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View article: Epithelial Predominant Wilms Tumor in an Adult Patient: Case Report and Literature Review
Epithelial Predominant Wilms Tumor in an Adult Patient: Case Report and Literature Review Open
Although rare in adults, Wilms tumor is the most common pediatric renal tumor. Treatment typically involves radical nephrectomy followed by adjuvant chemotherapy or radiation, although outcomes differ between children and adults which may …
View article: Bull's-Eye Signs: Rapid Appearance of Diffuse Lung Cancer Metastases in the Stomach
Bull's-Eye Signs: Rapid Appearance of Diffuse Lung Cancer Metastases in the Stomach Open
CASE REPORT A 50-year-old man was recently diagnosed with right upper lobe lung invasive poorly differentiated adenocarcinoma (95% programmed cell death ligand 1 positivity) with metastases to the adrenals and femur. He underwent an upper …
View article: Epigenomic profiling of glucocorticoid responses identifies cis-regulatory disruptions impacting steroid resistance in childhood acute lymphoblastic leukemia
Epigenomic profiling of glucocorticoid responses identifies cis-regulatory disruptions impacting steroid resistance in childhood acute lymphoblastic leukemia Open
Glucocorticoids (GCs) are a mainstay of contemporary, multidrug chemotherapy in the treatment of childhood acute lymphoblastic leukemia (ALL), and resistance to GCs remains a major clinical concern. Resistance to GCs is predictive of ALL r…
View article: Amino acid stress response genes promote L-asparaginase resistance in pediatric acute lymphoblastic leukemia
Amino acid stress response genes promote L-asparaginase resistance in pediatric acute lymphoblastic leukemia Open
Understanding the genomic and epigenetic mechanisms of drug resistance in pediatric acute lymphoblastic leukemia (ALL) is critical for further improvements in treatment outcomes. The role of transcriptomic response in conferring resistance…
View article: Epigenomic profiling of glucocorticoid responses identifies cis-regulatory disruptions impacting steroid resistance in childhood acute lymphoblastic leukemia
Epigenomic profiling of glucocorticoid responses identifies cis-regulatory disruptions impacting steroid resistance in childhood acute lymphoblastic leukemia Open
Glucocorticoids (GCs) are a mainstay of contemporary, multi-drug chemotherapy in the treatment of childhood acute lymphoblastic leukemia (ALL), and resistance to GCs remains a major clinical concern. Resistance to GCs is predictive of ALL …
View article: Renal Cell Carcinoma with Testicular Metastases: A Case Report and Review of the Literature
Renal Cell Carcinoma with Testicular Metastases: A Case Report and Review of the Literature Open
Renal cell carcinoma (RCC) metastases to the testicle are an extremely rare clinical entity. Here, we describe the case of a man with metastatic RCC who developed a new testicular mass. Pathologic analysis after surgical removal of this te…
View article: Inflammatory Hibernoma of the Renal Hilum Mimicking a Renal Pelvis Tumor
Inflammatory Hibernoma of the Renal Hilum Mimicking a Renal Pelvis Tumor Open
We report on an enhancing, heterogenous renal pelvis mass growing over 2 years which was found to be a benign hibernoma with inflammatory and lipomatous features originating from the renal hilum. To our knowledge, this is the first case re…
View article: Hymenolepis nana Infection in an HIV Patient With Diarrhea
Hymenolepis nana Infection in an HIV Patient With Diarrhea Open
CASE REPORT A 27-year-old man with untreated human immunodeficiency virus and acquired immunodeficiency syndrome presented with 5 days of diffuse abdominal pain, watery, nonbloody diarrhea, vomiting, and a CD4 count of 93 cells/mm3. He end…
View article: Comprehensive characterization of pharmacogenetic variants in TPMT and NUDT15 in children with acute lymphoblastic leukemia
Comprehensive characterization of pharmacogenetic variants in TPMT and NUDT15 in children with acute lymphoblastic leukemia Open
Thiopurines [e.g. 6-mercaptopurine (6MP)] are essential for the cure of acute lymphoblastic leukemia (ALL) but can cause dose-limiting hematopoietic toxicity. Germline variants in drug-metabolizing enzyme genes TPMT and NUDT15 have been li…
View article: Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia
Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia Open
Genetic alterations in the RUNX1 gene are associated with benign and malignant blood disorders, particularly of megakaryocyte and myeloid lineages. The role of RUNX1 in acute lymphoblastic leukemia (ALL) is less clear, particularly how ger…
View article: Germline <i>RUNX1</i> Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia
Germline <i>RUNX1</i> Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia Open
RUNX1 is a transcription factor critical for definitive hematopoiesis and genetic alterations in RUNX1 have been implicated in both benign and malignant blood disorders, particularly of the megakaryocyte and myeloid lineages. Somatic RUNX1…
View article: Effects of<i>NT5C2</i>germline variants on 6-mecaptopurine metabolism in children with acute lymphoblastic leukemia
Effects of<i>NT5C2</i>germline variants on 6-mecaptopurine metabolism in children with acute lymphoblastic leukemia Open
6-mercaptopurine (6-MP) is widely used in the treatment of acute lymphoblastic leukemia (ALL), and its cytotoxicity is primarily mediated by thioguanine nucleotide metabolites (TGN). Recent genome-wide association study has identified germ…
View article: Non-coding germline <i>GATA3</i> variants alter chromatin topology and contribute to pathogenesis of acute lymphoblastic leukemia
Non-coding germline <i>GATA3</i> variants alter chromatin topology and contribute to pathogenesis of acute lymphoblastic leukemia Open
Inherited non-coding genetic variants confer significant disease susceptibility in many cancers. However, the molecular processes of by which germline variants contribute to somatic lesions are poorly understood. We performed targeted sequ…
View article: Novel susceptibility variants at the ERG locus for childhood acute lymphoblastic leukemia in Hispanics
Novel susceptibility variants at the ERG locus for childhood acute lymphoblastic leukemia in Hispanics Open
Acute lymphoblastic leukemia (ALL) is the most common malignancy in children. Characterized by high levels of Native American ancestry, Hispanics are disproportionally affected by this cancer with high incidence and inferior survival. Howe…
View article: Genetics of pleiotropic effects of dexamethasone
Genetics of pleiotropic effects of dexamethasone Open
The integrative pleiotropic analysis identified risk variants for osteonecrosis and thrombosis not identified by single-phenotype analysis that may have importance for patients with underlying sensitivity to multiple dexamethasone adverse …
View article: Palmar‐plantar erythrodysesthesia syndrome following treatment with high‐dose methotrexate or high‐dose cytarabine
Palmar‐plantar erythrodysesthesia syndrome following treatment with high‐dose methotrexate or high‐dose cytarabine Open
BACKGROUND Palmar‐plantar erythrodysesthesia syndrome (PPES) is an uncommon side effect of high‐dose cytarabine or methotrexate. Prior case reports of PPES have been limited, and the predisposing factors for the development of PPES remain …
View article: Adoptively-Transferred Epstein-Barr Virus (EBV)-Specific T Cells to Prevent or Treat EBV-Related Lymphoproliferative Disease in Allogeneic Hematopoietic Stem Cell Transplantation (HSCT) Recipients - a Single Center Experience Spanning 22 Years
Adoptively-Transferred Epstein-Barr Virus (EBV)-Specific T Cells to Prevent or Treat EBV-Related Lymphoproliferative Disease in Allogeneic Hematopoietic Stem Cell Transplantation (HSCT) Recipients - a Single Center Experience Spanning 22 Years Open
EBV reactivation post-allogeneic HSCT can lead to the outgrowth of EBV-infected B cells and the development of post-transplant lymphoproliferative disease (EBV-PTLD). Since 1993 our group has investigated the use of adoptively-transferred …