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macfarlands [at] email.chop.edu
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3401 Civic Center Blvd
Philadelphia, PA 19104
United States

Suzanne P. MacFarland, MD
Suzanne P. MacFarland Headshot
Attending Physician

Dr. MacFarland's research focuses on syndromes that predispose to cancer development in children and adolescents. She has initiated several individual and collaborative research projects, working in pediatric polyposis syndromes and Li-Fraumeni syndrome. She is uncovering novel genomic drivers of disease and identifying biomarkers of cancer onset and progression.

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Bio

Dr. MacFarland has focused her career on syndromes that predispose to the development of cancer in children and adolescents, and she has initiated several individual and collaborative research projects in furtherance of her research goal.

Her main research project focuses on novel genomic drivers of Juvenile Polyposis Syndrome (JPS), a pediatric cancer predisposition syndrome with a 50 percent risk of early onset gastrointestinal cancer. There are two known genetic drivers if JPS – mutations in SMAD4 or BMPR1A – yet the majority of patients at CHOP seen with this condition do not have a mutation in one of these genes. Dr. MacFarland has been conducting whole exome sequencing and somatic genomic/proteomic analysis on these polyps to better understand genomic drivers and polyp pathogenesis. The incidence of early onset colorectal cancer (CRC) is increasing in the general population without improvement in outcomes in this age group, so understanding the transition of normal colonic mucosa to malignancy is vital to better understand risk and prevention.

In conjunction with her work in novel drivers of polyposis syndromes, she has also initiated a collaborative research project with Dr. Kara Maxwell at the University of Pennsylvania to uncover new genomic drivers in adult and pediatric patients with Li-Fraumeni syndrome. They plan to enroll patients with Li-Fraumeni syndrome and collect blood and stool specimens for cell-free DNA and microbiome analysis.

Finally, as a clinical research interest, Dr. MacFarland has been intrigued by the ability to uncover germline cancer predisposition through the use of wider sequencing efforts ongoing in the research community. She and several colleagues are analyzing the Children's Brain Tumor Tissue Consortium germline sequencing data in collaboration with the cancer predisposition program at Children’s National Medical Center.

Education and Training

BS, Pennsylvania State University (Biology), 2007

BA, Pennsylvania State University (Philosophy), 2007

MD, NYU School of Medicine, 2011

Titles and Academic Titles

Attending Physician

Instructor of Pediatrics

Professional Memberships

Children’s Oncology Group, 2014-

American Society of Clinical Oncology, 2015-

American Association of Cancer Research, 2015-

Advances in Neuroblastoma Research, 2015-

 

Publication Highlights

MacFarland SP, Duffy KA, Bhatti TR, Bagatell R, Balamuth NJ, Brodeur GM, Ganguly A, Mattei PA, Surrey LF, Balis FM, Kalish JM. Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor. Pediatr Blood Cancer. 2018 Oct; 65(10):e27296. doi: 10.1002/pbc.27296. Epub 2018 Jun 22. PMID: 29932284
MacFarland SP, Zelley K, Long JM, McKenna D, Mamula P, Domchek SM, Nathanson KL, Brodeur GM, Rustgi AK, Katona BW, Maxwell KN. Earlier colorectal cancer screening may be necessary in patients with Li-Fraumeni Syndrome. Gastroenterology. 2018 Sep; pii: S0016-5085(18)35028-5. doi: 10.1053/j.gastro.2018.09.036. [Epub ahead of print] No abstract available. PMID: 30243621
MacFarland SP, Bauer AJ, Adzick NS, Surrey LF, Noyes J, Kazahaya K, Mostoufi-Moab S. Disease Burden and Outcome in Children and Young Adults With Concurrent Graves Disease and Differentiated Thyroid Carcinoma. J Clin Endocrinol Metab. 2018 Aug; 103(8):2918-2925. doi: 10.1210/jc.2018-00026
MacFarland SP, Mostoufi-Moab S, Zelley K, Mattei PA, States LJ, Bhatti TR, Duffy KA, Brodeur GM, Kalish JM. Management of adrenal masses in patients with Beckwith-Wiedemann syndrome. Pediatr Blood Cancer. 2017 Aug; 64(8). doi: 10.1002/pbc.26432. Epub 2017 Jan 9. Review. PMID: 28066990