- Overview
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One of my research interests is studying molecular alterations in developing organs in fetal and infant disorders. I am currently studying congenital diaphragmatic hernia (CDH), in which a hole forms in the fetal diaphragm which can lead to altered fetal lung growth and development and post-natal complications. Fetal lung development in CDH is altered by molecular mechanisms and environmental factors that are currently not well understood. I am collaborating with Dr. Prusinkiewicz and Dr. Mudri (Victoria) to use immunohistochemistry and qPCR techniques on CDH archival specimens to characterize lung proteins and mRNAs of interest.
My research interests also extend to women’s health, specifically endometriosis, which is associated with pain (often severe), decreased fertility, and in rare instances, cancers. I am working with WHRI investigators Dr. P. Yong (WHRI) and Dr. M. Anglesio to characterize expression of select proteins in endometriosis biopsy samples, correlate it with clinical variables, and find patterns that inform better prognostication or treatments. Our work has been published in a number of reproductive science, pathology, and general scientific interest journals.
I also have a long-standing collaboration with various members in the Department of Pediatric Radiology at BC Children's Hospital, performing radiology-pathology correlation in a wide variety of disorders in fetuses, infants, and children. This work has led to multiple peer-reviewed studies, educational exhibits, and conference presentations.
Finally, I am a pathology reviewer for the Peds POG and PROFYLE initiatives.
- Publications
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Nerve Bundle Density and Expression of NGF and IL-1ß Are Intra-Individually Heterogenous in Subtypes of Endometriosis
Biomolecules
DOI: 10.3390/biom14050583
2024Expanding the molecular and phenotypic spectrum of CTLA-4 insufficiency
Pediatric Allergy and Immunology
DOI: 10.1111/pai.14077
2024A multimorphic variant in ThPOK causes a novel human disease characterized by T cell abnormalities, immunodysregulation, allergy, and fibrosis
medRxiv
DOI: 10.1101/2024.06.26.24309360
2024Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers
Nature Communications
DOI: 10.1038/s41467-024-48363-5
2024Decreased ß-catenin Protein in Lungs From Human Congenital Diaphragmatic Hernia Archival Pathology Specimens: A Case-control Study
Journal of Pediatric Surgery
DOI: 10.1016/j.jpedsurg.2024.01.034
2024Autopsy-Based Growth Charts May under-Detect Fetal Growth Restriction at Autopsy
Fetal and Pediatric Pathology
DOI: 10.1080/15513815.2023.2299491
2024Placenta and Pregnancy-Related Diseases
Erica Schollenberg and Anna F. Lee and Jefferson Terry
DOI: 10.1007/978-981-19-7696-4_15-1
2024Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma
medRxiv
DOI: 10.1101/2023.12.20.23300096
2023A Pediatric Case of Reninoma Presenting with Paraneoplastic Syndrome of Inappropriate Antidiuretic Hormone Secretion
Hormone Research in Paediatrics
DOI: 10.1159/000533521
2023KRAS mutations and endometriosis burden of disease
Journal of Pathology: Clinical Research
DOI: 10.1002/cjp2.317
2023Pathologic 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
01/2022Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy
Blood
Sharma, M. and Fu, M.P. and Lu, H.Y. and Sharma, A.A. and Modi, B.P. and Michalski, C. and Lin, S. and Dalmann, J. and Salman, A. and Del Bel, K.L. and Waqas, M. and Terry, J. and Setiadi, A. and Lavoie, P.M. and Wasserman, W.W. and Mwenifumbo, J. and Kobor, M.S. and Lee, A.F. and Kuchenbauer, F. and Lehman, A. and Cheng, S. and Cooper, A. and Patel, M.S. and Turvey, S.E.
DOI: 10.1182/blood.2022015674
2022The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies
Journal of Pathology: Clinical Research
Tessier-Cloutier, B. and Grewal, J.K. and Jones, M.R. and Pleasance, E. and Shen, Y. and Cai, E. and Dunham, C. and Hoang, L. and Horst, B. and Huntsman, D.G. and Ionescu, D. and Karnezis, A.N. and Lee, A.F. and Lee, C.H. and Lee, T.H. and Twa, D.D.W. and Mungall, A.J. and Mungall, K. and Naso, J.R. and Ng, T. and Schaeffer, D.F. and Sheffield, B.S. and Skinnider, B. and Smith, T. and Williamson, L. and Zhong, E. and Regier, D.A. and Laskin, J. and Marra, M.A. and Gilks, C.B. and Jones, S.J.M. and Yip, S.
DOI: 10.1002/cjp2.265
2022Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy
medRxiv
Sharma, M. and Fu, M.P. and Lu, H.Y. and Sharma, A.A. and Modi, B.P. and Michalski, C. and Lin, S. and Dalmann, J. and Salman, A. and Del Bel, K.L. and Waqas, M. and Terry, J. and Setiadi, A. and Lavoie, P.M. and Wasserman, W.W. and Mwenifumbo, J. and Kobor, M.S. and Lee, A.F. and Lehman, A. and Cheng, S. and Cooper, A. and Patel, M.S. and Turvey, S.E.
DOI: 10.1101/2022.01.30.22269378
2022Spectrum of bowel wall thickening on ultrasound with pathological correlation in children
Pediatric Radiology
Limantoro, I. and Lee, A.F. and Rosenbaum, D.G.
DOI: 10.1007/s00247-022-05376-w
2022Piriform fossa sinus tract — a 15-year retrospective review with a focus on atypical neonatal presentations
Pediatric Radiology
Tshuma, M. and Chadha, N.K. and Lee, A.F. and Bray, H.
DOI: 10.1007/s00247-021-05245-y
2022Malignant 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
11/2021Granulocyte Colony Stimulating Factor Expression in Breast Cancer and Its Association with Carbonic Anhydrase IX and Immune Checkpoints
Cancers
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
03/2021The paediatric thymus: recognising normal and ectopic thymic tissue.
Clinical radiology
DOI: 10.1016/j.crad.2021.02.017
PubMed: 33762135
03/2021Diffuse alveolar haemorrhage in a child with trisomy 21.
Journal of paediatrics and child health
DOI: 10.1111/jpc.15331
PubMed: 33694213
03/2021Clinical response to nivolumab in an INI1-deficient pediatric chordoma correlates with immunogenic recognition of brachyury
npj Precision Oncology
Williamson, L.M. and Rive, C.M. and Di Francesco, D. and Titmuss, E. and Chun, H.-J.E. and Brown, S.D. and Milne, K. and Pleasance, E. and Lee, A.F. and Yip, S. and Rosenbaum, D.G. and Hasselblatt, M. and Johann, P.D. and Kool, M. and Harvey, M. and Dix, D. and Renouf, D.J. and Holt, R.A. and Nelson, B.H. and Hirst, M. and Jones, S.J.M. and Laskin, J. and Rassekh, S.R. and Deyell, R.J. and Marra, M.A.
DOI: 10.1038/s41698-021-00238-4
2021Heterotopic gastric mucosa in the rectum
Journal of Pediatric Surgery Case Reports
DOI: 10.1016/j.epsc.2020.101673
12/2020Tumor-associated macrophages and macrophage-related immune checkpoint expression in sarcomas
OncoImmunology
DOI: 10.1080/2162402x.2020.1747340
01/2020Fontan-Associated Liver Disease: Spectrum of Disease in Children and Adolescents.
Journal of the American Heart Association
DOI: 10.1161/jaha.119.012529
PubMed: 31902322
01/2020Plasminogen activator inhibitor-1 (PAI-1) expression in endometriosis
PLOS ONE
DOI: 10.1371/journal.pone.0219064
07/2019ALK-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
06/2019Complex 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
01/2019Iatrogenic 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
01/2019Application 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
04/2018Comparative 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
04/2018Interstitial lung disease in infancy: an unusual presentation of CD40 ligand deficiency
LymphoSign Journal
DOI: 10.14785/lymphosign-2017-0003
06/2017Nivolumab in the Treatment of Refractory Pediatric Hodgkin Lymphoma
Journal of Pediatric Hematology/Oncology
Foran, A.E. and Nadel, H.R. and Lee, A.F. and Savage, K.J. and Deyell, R.J.
DOI: 10.1097/MPH.0000000000000703
2017Nivolumab in the Treatment of Refractory Pediatric Hodgkin Lymphoma.
Foran AE and Nadel HR and Lee AF and Savage KJ and Deyell RJ
PubMed: 27841828
11/2016Phenotypic 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
09/2016Nerve 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
07/2016Paternal 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
03/2016BAP1 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
07/2015Fatal 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
2015Postmortem 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
12/2014Significant 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
2014IMP3 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
03/2013Recurrent 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
01/2012Recurrent 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
01/2012Low-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
11/2011Loss 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
07/2011FLI-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
05/2011Periodic 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
07/2010Evidence 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
10/2004SHP-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
12/2003p73 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
11/2002p73 is required for survival and maintenance of CNS neurons
Journal of Neuroscience
Pozniak, C.D. and Barnabé-Heider, F. and Rymar, V.V. and Lee, A.F. and Sadikot, A.F. and Miller, F.D.
DOI: 10.1523/jneurosci.22-22-09800.2002
2002 - Research
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Radiology-Pathology Correlation of Pediatric Conditions
I enjoy collaborating with my BC Children's 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, BC Children's 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).
Congratulations to the CIHR 2017 Project Grant Recipients
We are pleased to congratulate the BC Children's and BC Women's investigators who were awarded funding from the Canadian Institutes of Health Research (CIHR) Fall 2017 competitions.
