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.


Interstitial lung disease in infancy: an unusual presentation of CD40 ligand deficiency
LymphoSign Journal
DOI: 10.14785/lymphosign-2017-0003

Nivolumab in the Treatment of Refractory Pediatric Hodgkin Lymphoma.
Foran AE, Nadel HR, Lee AF, Savage KJ, Deyell RJ
PubMed: 27841828

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, Popek E, Lee AF, Lupski JR, Boerkoel CF, Stankiewicz P
DOI: 10.1002/ajmg.a.37822
PubMed: 27374786

Nerve Bundles and Deep Dyspareunia in Endometriosis.
Williams C, Hoang L, Yosef A, Alotaibi F, Allaire C, Brotto L, Fraser IS, Bedaiwy MA, Ng TL, Lee AF, Yong PJ
DOI: 10.1177/1933719115623644
PubMed: 26711313

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, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K
DOI: 10.1002/ajmg.a.37471
PubMed: 26572961

BAP1 immunohistochemistry and p16 FISH to separate benign from malignant mesothelial proliferations.
Sheffield BS, Hwang HC, Lee AF, Thompson K, Rodriguez S, Tse CH, Gown AM, Churg A
DOI: 10.1097/pas.0000000000000394
PubMed: 25634745

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, Yip S, Ruchelli ED, Dunham CP, Sherwin E, Brooks PA, Sur A, Singh A, Human DG, Patel MS, Lee AF
DOI: 10.2350/14-07-1525-cr.1
PubMed: 25668678

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, Pawel BR, Sullivan LM
DOI: 10.2350/14-02-1436-oa.1
PubMed: 24856811

IMP3 and GLUT-1 immunohistochemistry for distinguishing benign from malignant mesothelial proliferations.
Lee AF, Gown AM, Churg A
DOI: 10.1097/pas.0b013e31826ab1c0
PubMed: 23108021

Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.
Heravi-Moussavi A, Anglesio MS, Cheng SW, Senz J, Yang W, Prentice L, Fejes AP, Chow C, Tone A, Kalloger SE, Hamel N, Roth A, Ha G, Wan AN, Maines-Bandiera S, Salamanca C, Pasini B, Clarke BA, Lee AF, Lee CH
DOI: 10.1056/nejmoa1102903
PubMed: 22187960

Recurrent congestive heart failure in a child due to probable myocarditis.
Lee AF, Chiasson DA, Smythe JF, Sanatani S
DOI: 10.1007/s00246-011-0109-3
PubMed: 21910020

Low-grade fibromyxoid sarcoma of the perineum with heterotopic ossification: case report and review of the literature.
Lee AF, Yip S, Smith AC, Hayes MM, Nielsen TO, O'Connell JX
DOI: 10.1016/j.humpath.2011.02.022
PubMed: 21658743

Loss of BAF250a (ARID1A) is frequent in high-grade endometrial carcinomas.
Wiegand KC, Lee AF, Al-Agha OM, Chow C, Kalloger SE, Scott DW, Steidl C, Wiseman SM, Gascoyne RD, Gilks B, Huntsman DG
DOI: 10.1002/path.2911
PubMed: 21590771

FLI-1 distinguishes Ewing sarcoma from small cell osteosarcoma and mesenchymal chondrosarcoma.
Lee AF, Hayes MM, Lebrun D, Espinosa I, Nielsen GP, Rosenberg AE, Lee CH
DOI: 10.1097/pai.0b013e3181fd6697
PubMed: 21084965

Periodic acid-schiff is superior to hematoxylin and eosin for screening prophylactic gastrectomies from CDH1 mutation carriers.
Lee AF, Rees H, Owen DA, Huntsman DG
DOI: 10.1097/pas.0b013e3181e28985
PubMed: 20534996

Evidence that DeltaNp73 promotes neuronal survival by p53-dependent and p53-independent mechanisms.
Lee AF, Ho DK, Zanassi P, Walsh GS, Kaplan DR, Miller FD
DOI: 10.1523/jneurosci.1588-04.2004
PubMed: 15483136

SHP-1 negatively regulates neuronal survival by functioning as a TrkA phosphatase.
Marsh HN, Dubreuil CI, Quevedo C, Lee A, Majdan M, Walsh GS, Hausdorff S, Said FA, Zoueva O, Kozlowski M, Siminovitch K, Neel BG, Miller FD, Kaplan DR
DOI: 10.1083/jcb.200309036
PubMed: 14662744

p73 is required for survival and maintenance of CNS neurons.
Pozniak CD, Barnabé-Heider F, Rymar VV, Lee AF, Sadikot AF, Miller FD
PubMed: 12427836


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).