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.


The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.
The journal of pathology. Clinical research
DOI: 10.1002/cjp2.265
PubMed: 35257510

Piriform fossa sinus tract - a 15-year retrospective review with a focus on atypical neonatal presentations.
Pediatric radiology
DOI: 10.1007/s00247-021-05245-y
PubMed: 35028679

Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report
Fetal and Pediatric Pathology
Yi Ariel Liu and Chieko Chijiwa and Christopher P. Dunham and Douglas H. Jamieson and Alfonso Solimano and Julianne van Schalkwyk and Millan S. Patel and Anna F. Lee
DOI: 10.1080/15513815.2020.1753269

Clinical response to nivolumab in an INI1-deficient pediatric chordoma correlates with immunogenic recognition of brachyury
npj Precision Oncology
Laura M. Williamson and Craig M. Rive and Daniela Di Francesco and Emma Titmuss and Hye-Jung E. Chun and Scott D. Brown and Katy Milne and Erin Pleasance and Anna F. Lee and Stephen Yip and Daniel G. Rosenbaum and Martin Hasselblatt and Pascal D. Johann and Marcel Kool and Melissa Harvey and David Dix and Daniel J. Renouf and Robert A. Holt and Brad H. Nelson and Martin Hirst and Steven J. M. Jones and Janessa Laskin and Shahrad R. Rassekh and Rebecca J. Deyell and Marco A. Marra
DOI: 10.1038/s41698-021-00238-4

Malignant Mesothelioma With EWSR1-ATF1 Fusion in Two Adolescent Male Patients
Pediatric and Developmental Pathology
Hezhen Ren and S Rod Rassekh and Atilano Lacson and Cheng-Han Lee and Brendan C Dickson and Catherine T Chung and Anna F Lee
DOI: 10.1177/10935266211021222

Granulocyte Colony Stimulating Factor Expression in Breast Cancer and Its Association with Carbonic Anhydrase IX and Immune Checkpoints
Shawn C. Chafe and Nazia Riaz and Samantha Burugu and Dongxia Gao and Samuel C. Y. Leung and Anna F. Lee and Cheng-Han Lee and Shoukat Dedhar and Torsten O. Nielsen
DOI: 10.3390/cancers13051022

Diffuse alveolar haemorrhage in a child with trisomy 21.
Journal of paediatrics and child health
DOI: 10.1111/jpc.15331
PubMed: 33694213

The paediatric thymus: recognising normal and ectopic thymic tissue.
Clinical radiology
DOI: 10.1016/j.crad.2021.02.017
PubMed: 33762135

Heterotopic gastric mucosa in the rectum
Journal of Pediatric Surgery Case Reports
DOI: 10.1016/j.epsc.2020.101673

Tumor-associated macrophages and macrophage-related immune checkpoint expression in sarcomas
DOI: 10.1080/2162402x.2020.1747340

Fontan-Associated Liver Disease: Spectrum of Disease in Children and Adolescents.
Journal of the American Heart Association
DOI: 10.1161/jaha.119.012529
PubMed: 31902322

Plasminogen activator inhibitor-1 (PAI-1) expression in endometriosis
DOI: 10.1371/journal.pone.0219064

ALK-Positive Lung Adenocarcinoma Arising in an Adolescent Treated for Relapsed Neuroblastoma
Journal of Thoracic Oncology
Yazeed Alwelaie and Rebecca J. Deyell and Helen R. Nadel and Tracy Tucker and Janessa Laskin and S. Rod Rassekh and Chen Zhou and John C. English and Anna F. Lee
DOI: 10.1016/j.jtho.2019.02.010

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
DOI: 10.1016/j.ajhg.2018.12.010
PubMed: 30639323

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
DOI: 10.1093/humrep/dey332
PubMed: 30428062

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
DOI: 10.1101/mcs.a002568
PubMed: 29610391

Comparative RNA-Sequencing Analysis Benefits a Pediatric Patient With Relapsed Cancer
JCO Precision Oncology
Yulia Newton and S. Rod Rassekh and Rebecca J. Deyell and Yaoqing Shen and Martin R. Jones and Chris Dunham and Stephen Yip and Sreeja Leelakumari and Jingchun Zhu and Duncan McColl and Teresa Swatloski and Sofie R. Salama and Tony Ng and Glenda Hendson and Anna F. Lee and Yussanne Ma and Richard Moore and Andrew J. Mungall and David Haussler and Joshua M. Stuart and Colleen Jantzen and Janessa Laskin and Steven J.M. Jones and Marco A. Marra and Olena Morozova
DOI: 10.1200/po.17.00198

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 and Nadel HR and Lee AF and Savage KJ and Deyell RJ
PubMed: 27841828

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
DOI: 10.1002/ajmg.a.37822
PubMed: 27374786

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
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 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
DOI: 10.1002/ajmg.a.37471
PubMed: 26572961

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
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 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
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 and Pawel BR and 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 and Gown AM and Churg A
DOI: 10.1097/pas.0b013e31826ab1c0
PubMed: 23108021

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
DOI: 10.1056/nejmoa1102903
PubMed: 22187960

Recurrent congestive heart failure in a child due to probable myocarditis.
Lee AF and Chiasson DA and Smythe JF and 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 and Yip S and Smith AC and Hayes MM and Nielsen TO and 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 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
DOI: 10.1002/path.2911
PubMed: 21590771

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
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 and Rees H and Owen DA and Huntsman DG
DOI: 10.1097/pas.0b013e3181e28985
PubMed: 20534996

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
DOI: 10.1523/jneurosci.1588-04.2004
PubMed: 15483136

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
DOI: 10.1083/jcb.200309036
PubMed: 14662744

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
PubMed: 12427836


Radiology-Pathology Correlation of Pediatric Conditions
I enjoy collaborating with my BCCH Radiologist colleagues to correlate gross and microscopic features of pediatric surgical and biopsy specimens with their imaging findings. Conditions we have looked at in the past include pediatric renal tumors, pediatric bowel inflammatory conditions, pediatric interstitial lung disease, and thymic developmental abnormalities and differences. Our work has led to several educational exhibits at the RSNA and SPR annual meetings, and we have several manuscripts in preparation.

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 related initiative, the Canada-wide "Precision Oncology for Young People" (PROFYLE).