Volume 4(2); 2018 Apr

Rapid Cancer Communication

FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia

Leomar Y. Ballester, Marta Penas-Prado, Norman E. Leeds, Jason T. Huse, Gregory N. Fuller

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002378. doi: 10.1101/mcs.a002378

PMCID:: PMC5880259

Abstract Article PDF–37M

Small-cell transformation of ALK-rearranged non-small-cell adenocarcinoma of the lung

Agnes Balla, Farrah Khan, Kenneth J. Hampel, Dara L. Aisner, Nikoletta Sidiropoulos

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002394. doi: 10.1101/mcs.a002394

PMCID:: PMC5880261

Abstract Article PDF–3.3M

Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma

Katherine E. Miller, Benjamin Kelly, James Fitch, Nicole Ross, Matthew R. Avenarius, Elizabeth Varga, Daniel C. Koboldt, Daniel R. Boué, Vincent Magrini, Scott L. Coven, Jonathan L. Finlay, Catherine E. Cottrell, Peter White, Julie M. Gastier-Foster, Richard K. Wilson, Jeffrey Leonard, Elaine R. Mardis

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002618. doi: 10.1101/mcs.a002618

PMCID:: PMC5880266

Abstract Article PDF–1.4M

Editorial

The era of precision oncogenomics

John C. Carpten, Elaine R. Mardis

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002915. doi: 10.1101/mcs.a002915

PMCID:: PMC5880272

Article PDF–228K

Perspective

Journey from oncologist to cancer survivor and patient advocate in the era of precision medicine

Burton M. Needles

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002717. doi: 10.1101/mcs.a002717

PMCID:: PMC5880268

Abstract Article PDF–329K

Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families

Mary Beth Campbell, Wesley C. Campbell, James Rogers, Natalie Rogers, Zachary Rogers, Anne Marie van den Hurk, Annie Webb, Talon Webb, Paul Zaslaw

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002816. doi: 10.1101/mcs.a002816

PMCID:: PMC5880269

Abstract Article PDF–1.1M

Precision oncogenomics in pediatrics: a personal reflection

Cindy Campbell, Jeffrey P. Greenfield

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002865. doi: 10.1101/mcs.a002865

PMCID:: PMC5880271

Abstract Article PDF–637K

Commentaries

Personalized cancer therapy—leveraging a knowledge base for clinical decision-making

Ecaterina Ileana Dumbrava, Funda Meric-Bernstam

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a001578. doi: 10.1101/mcs.a001578

PMCID:: PMC5880252

Abstract Article PDF–1.9M

The future of cancer treatment using precision oncogenomics

Lukas D. Wartman

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002824. doi: 10.1101/mcs.a002824

PMCID:: PMC5880270

Abstract Article PDF–625K

Research Articles

Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma

Kristiina Nordfors, Joonas Haapasalo, Ebrahim Afyounian, Joonas Tuominen, Matti Annala, Sergei Häyrynen, Ritva Karhu, Pauli Helén, Olli Lohi, Matti Nykter, Hannu Haapasalo, Kirsi J. Granberg

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002246. doi: 10.1101/mcs.a002246

Correction in:: Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a003129.

PMCID:: PMC5880256

Abstract Article PDF–10M

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing

Anna Schuh, Helene Dreau, Samantha J.L. Knight, Kate Ridout, Tuba Mizani, Dimitris Vavoulis, Richard Colling, Pavlos Antoniou, Erika M. Kvikstad, Melissa M. Pentony, Angela Hamblin, Andrew Protheroe, Marina Parton, Ketan A. Shah, Zsolt Orosz, Nick Athanasou, Bass Hassan, Adrienne M. Flanagan, Ahmed Ahmed, Stuart Winter, Adrian Harris, Ian Tomlinson, Niko Popitsch, David Church, Jenny C. Taylor

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002279. doi: 10.1101/mcs.a002279

PMCID:: PMC5880257

Abstract Article PDF–5.3M

Genomic profiling of dedifferentiated liposarcoma compared to matched well-differentiated liposarcoma reveals higher genomic complexity and a common origin

Hannah C. Beird, Chia-Chin Wu, Davis R. Ingram, Wei-Lien Wang, Asrar Alimohamed, Curtis Gumbs, Latasha Little, Xingzhi Song, Barry W. Feig, Christina L. Roland, Jianhua Zhang, Robert S. Benjamin, Patrick Hwu, Alexander J. Lazar, P. Andrew Futreal, Neeta Somaiah

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002386. doi: 10.1101/mcs.a002386

PMCID:: PMC5880260

Abstract Article PDF–7.4M

Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient

Christopher A. Miller, Sonika Dahiya, Tiandao Li, Robert S. Fulton, Matthew D. Smyth, Gavin P. Dunn, Joshua B. Rubin, Elaine R. Mardis

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002444. doi: 10.1101/mcs.a002444

PMCID:: PMC5880262

Abstract Article PDF–3.3M

Personalized oncogenomic analysis of metastatic adenoid cystic carcinoma: using whole-genome sequencing to inform clinical decision-making

Manik Chahal, Erin Pleasance, Jasleen Grewal, Eric Zhao, Tony Ng, Erin Chapman, Martin R. Jones, Yaoqing Shen, Karen L. Mungall, Melika Bonakdar, Gregory A. Taylor, Yussanne Ma, Andrew J. Mungall, Richard A. Moore, Howard Lim, Daniel Renouf, Stephen Yip, Steven J.M. Jones, Marco A. Marra, Janessa Laskin

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002626. doi: 10.1101/mcs.a002626

PMCID:: PMC5880267

Abstract Article PDF–5.0M

Research Reports

Comprehensive genomic profiling aids in treatment of a metastatic endometrial cancer

Jatinder Dhami, Kim M. Hirshfield, Shridar Ganesan, Mira Hellmann, Veronica Rojas, Judith K. Amorosa, Gregory M. Riedlinger, Hua Zhong, Siraj M. Ali, Dean Pavlick, Julia A. Elvin, Lorna Rodriguez-Rodriguez

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002089. doi: 10.1101/mcs.a002089

PMCID:: PMC5880253

Abstract Article PDF–17M

Identification of novel MECOM gene fusion and personalized therapeutic targets through integrative clinical sequencing in secondary acute myeloid leukemia in a patient with severe congenital neutropenia: a case report and literature review

James A. Connelly, Rajen J. Mody, Yi-Mi Wu, Dan R. Robinson, Robert J. Lonigro, Pankaj Vats, Erica Rabban, Bailey Anderson, Kelly Walkovich

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002204. doi: 10.1101/mcs.a002204

PMCID:: PMC5880254

Abstract Article PDF–2.6M

Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation–associated metastatic renal-cell carcinoma

Samer Alsidawi, Pashtoon Murtaza Kasi

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002220. doi: 10.1101/mcs.a002220

PMCID:: PMC5880255

Abstract Article PDF–2.1M

Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity

Lorena P. Suarez-Kelly, Keiko Akagi, Julie W. Reeser, Eric Samorodnitsky, Matthew Reeder, Amy Smith, Sameek Roychowdhury, David E. Symer, William E. Carson

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002352. doi: 10.1101/mcs.a002352

PMCID:: PMC5880258

Abstract Article PDF–4.4M

Molecular characterization of ERBB2-amplified colorectal cancer identifies potential mechanisms of resistance to targeted therapies: a report of two instructive cases

Daniel R. Owen, Hui-li Wong, Melika Bonakdar, Martin Jones, Christopher S. Hughes, Gregg B. Morin, Steven J.M. Jones, Daniel J. Renouf, Howard Lim, Janessa Laskin, Marco Marra, Stephen Yip, David F. Schaeffer

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002535. doi: 10.1101/mcs.a002535

PMCID:: PMC5880263

Abstract Article PDF–5.1M

Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinoma

Rebecca Ronsley, S. Rod Rassekh, Yaoqing Shen, Anna F. Lee, Colleen Jantzen, Jessica Halparin, Catherine Albert, Douglas S. Hawkins, Shazhan Amed, Ralph Rothstein, Andrew J. Mungall, David Dix, Geoffrey Blair, Helen Nadel, Steven J.M. Jones, Janessa Laskin, Marco A. Marra, Rebecca J. Deyell

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002568. doi: 10.1101/mcs.a002568

PMCID:: PMC5880264

Abstract Article PDF–2.4M

Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner

Jennifer A. Cotter, Linda Szymanski, Catherine Karimov, Lara Boghossian, Ashley Margol, Girish Dhall, Benita Tamrazi, G. Isaac Varaprasathan, David M. Parham, Alexander R. Judkins, Jaclyn A. Biegel

Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2): a002576. doi: 10.1101/mcs.a002576

PMCID:: PMC5880265

Abstract Article PDF–5.0M

Articles from Cold Spring Harbor Molecular Case Studies are provided here courtesy of Cold Spring Harbor Laboratory Press