A pathologist's guide for the diagnostic workup of paediatric central nervous system tumours

Authors: D'Arcy, Colleen E. ¹, Hawkins, Cynthia E. ^{2, ⁎}

Source: In Pathology March 2025 57(2):157-170

Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2

Authors: Lee, Wei Shern, Macdonald-Laurs, Emma, Stephenson, Sarah, D'Arcy, Colleen, Maixner, Wirginia, Harvey, A. Simon, Lockhart, Paul J., Leventer, Richard J.

Source: Neurology. 101(2):78-82

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191716577.0x000001&indx=1&recIds=ETOCvdc_100191716577.0x000001

Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia

Authors: Lee, Wei Shern, Macdonald‐Laurs, Emma, Stephenson, Sarah E M, D'Arcy, Colleen, MacGregor, Duncan, Leventer, Richard J, Maixner, Wirginia, Harvey, A Simon, Lockhart, Paul J

Source: Epilepsia open. 8(1):205-210

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184935636.0x000001&indx=1&recIds=ETOCvdc_100184935636.0x000001

Implementation of DNA Methylation Array Profiling in Pediatric Central Nervous System Tumors: The AIM BRAIN Project: An Australian and New Zealand Children's Haematology/Oncology Group Study

Authors: White, Christine L., Kinross, Kathryn M., Moore, Molly K., Rasouli, Elnaz, Strong, Robyn, Jones, Janelle M., Cain, Jason E., Sturm, Dominik, Sahm, Felix, Jones, David T.W., Pfister, Stefan M., Robertson, Thomas, D'Arcy, Colleen, Rodriguez, Michael L., Dyke, Jason M., Junckerstorff, Reimar, Bhuva, Dharmesh D., Davis, Melissa J., Wood, Paul, Hassall, Tim, Ziegler, David S., Kellie, Stewart, McCowage, Geoffrey, Alvaro, Frank, Kirby, Maria, Heath, John A., Tsui, Karen, Dodgshun, Andrew, Eisenstat, David D., Khuong-Quang, Dong-Anh, Wall, Meaghan, Algar, Elizabeth M., Gottardo, Nicholas G., Hansford, Jordan R.

Source: In The Journal of Molecular Diagnostics October 2023 25(10):709-728

Bronchial mucoepidermoid carcinoma in a child.

Authors: Konstantinov, Igor E., Zubritskiy, Alexey, D'Arcy, Colleen, Fricke, Tyson A., Moscoso, Bosco

Source: Journal of Thoracic & Cardiovascular Surgery; Mar2025, Vol. 169 Issue 3, pe25-e28, 4p

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Authors: Coleman, Matthew, Wang, Min, Snell, Penny, Lee, Wei Shern, D'Arcy, Colleen, Mignone, Cristina, Pope, Kate, Gillies, Greta, Maixner, Wirginia, Wray, Alison, Harvey, A Simon, Simons, Cas, Leventer, Richard J, Stephenson, Sarah E M, Lockhart, Paul J, Howell, Katherine B

Source: Brain Communications; 2025, Vol. 7 Issue 1, p1-12, 12p

Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas

Authors: Ryall, Scott, Zapotocky, Michal, Fukuoka, Kohei, Nobre, Liana, Guerreiro Stucklin, Ana, Bennett, Julie, Siddaway, Robert, Li, Christopher, Pajovic, Sanja, Arnoldo, Anthony, Kowalski, Paul E., Johnson, Monique, Sheth, Javal, Lassaletta, Alvaro, Tatevossian, Ruth G., Orisme, Wilda, Qaddoumi, Ibrahim, Surrey, Lea F., Li, Marilyn M., Waanders, Angela J., Gilheeney, Stephen, Rosenblum, Marc, Bale, Tejus, Tsang, Derek S., Laperriere, Normand, Kulkarni, Abhaya, Ibrahim, George M., Drake, James, Dirks, Peter, Taylor, Michael D., Rutka, James T., Laughlin, Suzanne, Shroff, Manohar, Shago, Mary, Hazrati, Lili-Naz, D'Arcy, Colleen, Ramaswamy, Vijay, Bartels, Ute, Huang, Annie, Bouffet, Eric, Karajannis, Matthias A., Santi, Mariarita, Ellison, David W., Tabori, Uri, Hawkins, Cynthia

Source: In Cancer Cell 13 April 2020 37(4):569-583

Metastatic neuroblastoma in fertility preservation biopsy of clinically normal testis: a case report

Authors: Ahler, Astrid, Gook, Debra, Moussaoui, Dehlia, Archer, Janell, Zacharin, Margaret, D'Arcy, Colleen E., Sullivan, Michael, Jayasinghe, Yasmin

Source: Reproductive biomedicine online. 47(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195571987.0x000001&indx=1&recIds=ETOCvdc_100195571987.0x000001

Normal Gamma Glutamyl Transferase Levels at Presentation Predict Poor Outcome in Biliary Atresia

Authors: Shankar, Sahana, Bolia, Rishi, Foo, Hee Wei, D'Arcy, Colleen E, Hardikar, Natasha, Wensing, Martin, Hardikar, Winita

Source: Journal of pediatric gastroenterology and nutrition. 70(3):350-355

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181763970.0x000001&indx=1&recIds=ETOCvdc_100181763970.0x000001

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2

Authors: Slade, Charlotte A., McLean, Catriona, Scerri, Thomas, Giang, Tran Binh, Megaloudis, Steven, Strathmore, Alexander, Tempany, Jessica C., Nicholls, Katherine, D'Arcy, Colleen, Bahlo, Melanie, Hodgkin, Philip D., Douglass, Jo A., Bryant, Vanessa L.

Source: Journal of clinical immunology. 39(3):324-335

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127650822.0x000001&indx=1&recIds=ETOCvdc_100127650822.0x000001

Sporadic Creutzfeldt-Jakob Disease in a Young Girl With Unusually Long Survival

Authors: D'Arcy, Colleen E, Bitnun, Ari, Coulthart, Michael B, D'Amour, Rolande, Friedman, Jeremy, Knox, J David, Rapoport, Adam, Carter, Snead, Widjaja, Elysa, Hazrati, Lili-Naz, Jansen, Gerard H

Source: Journal of neuropathology and experimental neurology. 78(4):373-378

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100079491346.0x000001&indx=1&recIds=ETOCvdc_100079491346.0x000001

The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.

Authors: Macdonald-Laurs, Emma^1,2,3, emma.macdonald-laurs@rch.org.au, Warren, Aaron E L^2,4, Francis, Peter⁵, Mandelstam, Simone A^2,3,5, Lee, Wei Shern^3,6, Coleman, Matthew^3,6, Stephenson, Sarah E M^3,6, Barton, Sarah^1,2,3, D'Arcy, Colleen⁷, Lockhart, Paul J^3,6, Leventer, Richard J^1,2,3, Harvey, A Simon^1,2,3

Source: Brain: A Journal of Neurology; Apr2024, Vol. 147 Issue 4, p1264-1277, 14p

An unexpected disease course for a patient with diffuse midline glioma

Authors: Malalasekera, Vajiranee S., D'Arcy, Colleen E., Mignone, Cristina, Wray, Alison C., Nazarian, Javad, Freeman, Jeremy L., Hansford, Jordan R.

Source: Pediatric blood & cancer. 68(10)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138363051.0x000001&indx=1&recIds=ETOCvdc_100138363051.0x000001

Novel high‐affinity EGFRvIII‐specific chimeric antigen receptor T cells effectively eliminate human glioblastoma

Authors: Abbott, Rebecca C, Verdon, Daniel J, Gracey, Fiona M, Hughes‐Parry, Hannah E, Iliopoulos, Melinda, Watson, Katherine A, Mulazzani, Matthias, Luong, Kylie, D'Arcy, Colleen, Sullivan, Lucy C, Kiefel, Ben R, Cross, Ryan S, Jenkins, Misty R

Source: Clinical & translational immunology. 10(7)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123831819.0x000001&indx=1&recIds=ETOCvdc_100123831819.0x000001

Histological changes in the umbilical artery following severe chorioamnionitis and funisitis may be indicative of early atherosclerosis

Authors: Rafferty, Anthony R., D'Arcy, Colleen, Cann, Leonie, Pyman, Jan, Rogers, Peter, Davis, Peter G., Nowell, Cameron, Burgner, David

Source: Placenta. 50:40-43

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100041913360.0x000001&indx=1&recIds=ETOCvdc_100041913360.0x000001

Naevoid miliaria profunda, successfully treated with botulinum toxin.

Authors: Berry, William¹ (AUTHOR) berry.bill4@gmail.com, D'Arcy, Colleen² (AUTHOR), Welsh, Belinda¹ (AUTHOR), Orchard, David^1,3 (AUTHOR), Bekhor, Philip S.^1,3 (AUTHOR), Robertson, Susan J.^1,4,5 (AUTHOR)

Source: Australasian Journal of Dermatology. Jun2024, Vol. 65 Issue 4, p399-401. 3p.

Subject Terms: *BOTULINUM toxin, *BOTULINUM A toxins, *TREATMENT effectiveness, *HYPERHIDROSIS, *INTRADERMAL injections, *HEMATOXYLIN & eosin staining

Integrated Molecular and Clinical Analysis of 1, 000 Pediatric Low-Grade Gliomas

Authors: Ryall, Scott, Zapotocky, Michal, Fukuoka, Kohei, Nobre, Liana, Guerreiro Stucklin, Ana, Bennett, Julie, Siddaway, Robert, Li, Christopher, Pajovic, Sanja, Arnoldo, Anthony, Kowalski, Paul E., Johnson, Monique, Sheth, Javal, Lassaletta, Alvaro, Tatevossian, Ruth G., Orisme, Wilda, Qaddoumi, Ibrahim, Surrey, Lea F., Li, Marilyn M., Waanders, Angela J., Gilheeney, Stephen, Rosenblum, Marc, Bale, Tejus, Tsang, Derek S., Laperriere, Normand, Kulkarni, Abhaya, Ibrahim, George M., Drake, James, Dirks, Peter, Taylor, Michael D., Rutka, James T., Laughlin, Suzanne, Shroff, Manohar, Shago, Mary, Hazrati, Lili-Naz, D'Arcy, Colleen, Ramaswamy, Vijay, Bartels, Ute, Huang, Annie, Bouffet, Eric, Karajannis, Matthias A., Santi, Mariarita, Ellison, David W., Tabori, Uri, Hawkins, Cynthia

Source: Cancer cell. 37(4):569-583.e5

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100133381221.0x000001&indx=1&recIds=ETOCvdc_100133381221.0x000001

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene

Authors: D Arcy, Colleen, Kanellakis, Voula, Forbes, Robin, Wilding, Brendan, McGrath, Meagan, Howell, Katherine, Ryan, Monique, McLean, Catriona

Source: Journal of child neurology. 30(9):1211-1217

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN602099311&indx=1&recIds=ETOCRN602099311

Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: A comprehensive review of the clinical, histological and pathological features

Authors: Cowling, Belinda S., Cottle, Denny L., Wilding, Brendan R., D’Arcy, Colleen E., Mitchell, Christina A., McGrath, Meagan J.

Source: In Neuromuscular Disorders April 2011 21(4):237-251

Pathogenic RHEBSomatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1or TSC2

Authors: Lee, Wei Shern, Macdonald-Laurs, Emma, Stephenson, Sarah, D'Arcy, Colleen, Maixner, Wirginia, Harvey, A. Simon, Lockhart, Paul J., Leventer, Richard J.

Source: Neurology (Ovid); July 2023, Vol. 101 Issue: 2 p78-82, 5p