Oncogenesis is the process of cancer development, whereby normal cells are transformed into cancer cells. I am interested in applying pathology techniques to learn more about this process, and to determine what triggers oncogenesis in different types of childhood cancers. I am also interested in correlating clinical aspects of disease with changes in diseased tissues, in the hopes of understanding the disease process better.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
American journal of human genetics
Karolak JA and Vincent M and Deutsch G and Gambin T and Cogné B and Pichon O and Vetrini F and Mefford HC and Dines JN and Golden-Grant K and Dipple K and Freed AS and Leppig KA and Stankiewicz P
Iatrogenic endometriosis harbors somatic cancer-driver mutations.
Human reproduction (Oxford, England)
Lac V and Verhoef L and Aguirre-Hernandez R and Nazeran TM and Tessier-Cloutier B and Praetorius T and Orr NL and Noga H and Lum A and Khattra J and Prentice LM and Co D and Köbel M and Anglesio MS
Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinoma.
Cold Spring Harbor molecular case studies
Ronsley R and Rassekh SR and Shen Y and Lee AF and Jantzen C and Halparin J and Albert C and Hawkins DS and Amed S and Rothstein R and Mungall AJ and Dix D and Blair G and Nadel H and J Deyell R
Nivolumab in the Treatment of Refractory Pediatric Hodgkin Lymphoma.
Foran AE and Nadel HR and Lee AF and Savage KJ and Deyell RJ
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Szafranski P and Coban-Akdemir ZH and Rupps R and Grazioli S and Wensley D and Jhangiani SN and Popek E and Lee AF and Lupski JR and Boerkoel CF and Stankiewicz P
Nerve Bundles and Deep Dyspareunia in Endometriosis.
Williams C and Hoang L and Yosef A and Alotaibi F and Allaire C and Brotto L and Fraser IS and Bedaiwy MA and Ng TL and Lee AF and Yong PJ
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Gripp KW and Robbins KM and Sheffield BS and Lee AF and Patel MS and Yip S and Doyle D and Stabley D and Sol-Church K
BAP1 immunohistochemistry and p16 FISH to separate benign from malignant mesothelial proliferations.
Sheffield BS and Hwang HC and Lee AF and Thompson K and Rodriguez S and Tse CH and Gown AM and Churg A
Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.
Sheffield BS and Yip S and Ruchelli ED and Dunham CP and Sherwin E and Brooks PA and Sur A and Singh A and Human DG and Patel MS and Lee AF
Postmortem genetic diagnosis of long QT syndrome in a case of sudden unexplained death of a young child: A case report and overview of regional guidelines for genetic testing
BC Medical Journal
Significant immunohistochemical expression of human chorionic gonadotropin in high-grade osteosarcoma is rare, but may be associated with clinically elevated serum levels.
Lee AF and Pawel BR and Sullivan LM
Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.
Heravi-Moussavi A and Anglesio MS and Cheng SW and Senz J and Yang W and Prentice L and Fejes AP and Chow C and Tone A and Kalloger SE and Hamel N and Roth A and Ha G and Wan AN and Maines-Bandiera S and Salamanca C and Pasini B and Clarke BA and Lee AF and Lee CH
Low-grade fibromyxoid sarcoma of the perineum with heterotopic ossification: case report and review of the literature.
Lee AF and Yip S and Smith AC and Hayes MM and Nielsen TO and O'Connell JX
Loss of BAF250a (ARID1A) is frequent in high-grade endometrial carcinomas.
Wiegand KC and Lee AF and Al-Agha OM and Chow C and Kalloger SE and Scott DW and Steidl C and Wiseman SM and Gascoyne RD and Gilks B and Huntsman DG
FLI-1 distinguishes Ewing sarcoma from small cell osteosarcoma and mesenchymal chondrosarcoma.
Lee AF and Hayes MM and Lebrun D and Espinosa I and Nielsen GP and Rosenberg AE and Lee CH
Periodic acid-schiff is superior to hematoxylin and eosin for screening prophylactic gastrectomies from CDH1 mutation carriers.
Lee AF and Rees H and Owen DA and Huntsman DG
Evidence that DeltaNp73 promotes neuronal survival by p53-dependent and p53-independent mechanisms.
Lee AF and Ho DK and Zanassi P and Walsh GS and Kaplan DR and Miller FD
SHP-1 negatively regulates neuronal survival by functioning as a TrkA phosphatase.
Marsh HN and Dubreuil CI and Quevedo C and Lee A and Majdan M and Walsh GS and Hausdorff S and Said FA and Zoueva O and Kozlowski M and Siminovitch K and Neel BG and Miller FD and Kaplan DR
p73 is required for survival and maintenance of CNS neurons.
Pozniak CD and Barnabé-Heider F and Rymar VV and Lee AF and Sadikot AF and Miller FD
Assessment of Liver Injury in Pediatric Fontan Patients
Patients with congenital heart disease who undergo a Fontan surgical procedure are at risk to develop advanced liver injury. While there are very few published Fontan case series each of limited size, a variety of hepatic abnormalities have been reported ranging from mild elevations in liver biochemistries to advanced fibrosis and cirrhosis. This study, led by Dr. O. Guttman (BCCH Gastroenterology) and K. Harris (BCCH Cardiology), will assess the incidence, prevalence and severity of liver injury and fibrosis and its complications in pediatric patients who have undergone the Fontan procedure. The utility of noninvasive markers of liver fibrosis in Fontan patients using FibroScan® (transient elastography) will be assessed, and correlated to the degree of histological hepatic fibrosis as measured using standard histological grading scores of liver biopsy tissue.
Neurogenesis in Endometriosis
Endometriosis is a common condition resulting in significant morbidity, pelvic pain and infertility. It commonly presents as deep pain with intercourse (dyspareunia). One mechanism by which endometriosis is thought to produce dyspareunia is through neurogenesis (nerve formation) in pelvic structures. I am a co-investigator on a study led by Dr. P. Yong (BCWH Obstetrics and Gynecology) to review the pain scores of patients with endometriosis and dyspareunia in comparison with the characteristics of their nerve cells. If we discover that the degree of pain is associated with the density of nerve cells, it may point to potential pharmaceutical targets to treat symptoms of endometriosis.
Pediatric Personalized Oncogenomics (PedsPOG)
I am a pathology reviewer for Pediatric Personalized Oncogenomics (PedsPOG), an innovative collaborative project that uses next-generation sequencing technologies to identify molecular pathways in pediatric cancers that could be targeted by pharmaceuticals (Site leaders: Drs. R. Deyell, R. Rassekh, BCCH Oncology; Principal investigators: Drs. M. Marra, J. Laskin, BCCA Oncology). I am also involved in a POG spin-off project led by Dr. I. Schrader (Medical Genetics).