Search Results

You are looking at 1 - 4 of 4 items for

  • Author: Lauren Fishbein x
  • Refine by access: All content x
Clear All Modify Search
Katherine I Wolf Department of Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan, USA

Search for other papers by Katherine I Wolf in
Google Scholar
PubMed
Close
,
Linda Rose-Krasnor Pheo Para Alliance and Psychology Department, Brock University, St. Catharines, Ontario, Canada

Search for other papers by Linda Rose-Krasnor in
Google Scholar
PubMed
Close
,
Stephanie Alband Pheo Para Alliance, Alexandria, Virginia, USA

Search for other papers by Stephanie Alband in
Google Scholar
PubMed
Close
,
Jacques W M Lenders Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands

Search for other papers by Jacques W M Lenders in
Google Scholar
PubMed
Close
, and
Lauren Fishbein Department of Medicine, Division of Endocrinology, Metabolism and Diabetes, and Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Lauren Fishbein in
Google Scholar
PubMed
Close

Pheochromocytoma and paragangliomas (PPGLs) originate from the chromaffin cells of the adrenal medulla or neural crest progenitors outside the adrenal gland, respectively. The estimated annual incidence of PPGL is between 2.0 and 8.0/million adults. Minimal data exist on the impact of PPGL from the patient’s perspective. Therefore, a survey was adapted from a previously published study on gastroenteropancreatic neuroendocrine tumors to explore the voice of patients with PPGL and learn ways to improve clinical care while understanding the current gaps to direct future research. A self-reported online survey was available to patients with PPGL and those with genetic predisposition even without PPGL from June to July 2022. Survey questions captured sociodemographic and clinical characteristics, the diagnostic workup, treatment and monitoring, quality and access to care, and financial impact. Here, we report the most relevant findings on patient experience of disease burden following diagnosis. A total of 270 people responded, the majority of whom were from the USA (79%), Caucasian (88%), and female (81%). The results of this survey highlight the burden of disease on a patient’s daily life, resulting in moderate to severe financial distress, increased travel time to specialized facilities resulting in loss of work and wages, and significant delays in care. Respondents reported being unheard and unacknowledged. With a median time to diagnosis just over 2 years, the physical, mental, and emotional toll are substantial. Increasing access to PPGL specialists and centers could lead to faster diagnoses and better management, which may reduce the burden on both patients and healthcare centers.

Restricted access
Jaydira Del Rivero Developmental Therapeutics Branch, National Cancer Institute, National Institutes of Health, Bethesda, USA

Search for other papers by Jaydira Del Rivero in
Google Scholar
PubMed
Close
,
Josh Mailman NorCal CarciNET Community, Oakland, California, USA

Search for other papers by Josh Mailman in
Google Scholar
PubMed
Close
,
Michael W Rabow Department of Internal Medicine, Division of Palliative Medicine, University of California, San Francisco, San Francisco, California, USA

Search for other papers by Michael W Rabow in
Google Scholar
PubMed
Close
,
Jennifer A Chan Harvard Medical School, Program in Carcinoid and Neuroendocrine Tumors, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA

Search for other papers by Jennifer A Chan in
Google Scholar
PubMed
Close
,
Sarah Creed Good Shepherd Community Care, Harvard Kennedy School, Natick, Massachusetts, USA

Search for other papers by Sarah Creed in
Google Scholar
PubMed
Close
,
Hagen F Kennecke Providence Cancer Institute Franz Clinic, Portland Providence Medical Center, Portland, Oregon, USA

Search for other papers by Hagen F Kennecke in
Google Scholar
PubMed
Close
,
Janice Pasieka Department of Surgery, Section of General Surgery, University of Calgary, Cumming School of Medicine, Calgary, Canada

Search for other papers by Janice Pasieka in
Google Scholar
PubMed
Close
,
Jennifer Zuar Department of Internal Medicine, Division of Geriatrics and Palliative Medicine, Alpert Medical School, Providence, Rhode Island, USA

Search for other papers by Jennifer Zuar in
Google Scholar
PubMed
Close
,
Simron Singh Odette Cancer Centre, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada

Search for other papers by Simron Singh in
Google Scholar
PubMed
Close
, and
Lauren Fishbein Department of Medicine, Division of Endocrinology, Metabolism and Diabetes, Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Lauren Fishbein in
Google Scholar
PubMed
Close

This serves as a white paper by the North American Neuroendocrine Tumor Society (NANETS) on the practical considerations when providing palliative care to patients with neuroendocrine tumors in the context of routine disease management or hospice care. The authors involved in the development of this manuscript represent a multidisciplinary team of patient advocacy, palliative care, and hospice care practitioners, endocrinologist, and oncologists who performed a literature review and provided expert opinion on a series of questions often asked by our patients and patient caregivers affected by this disease. We hope this document serves as a starting point for oncologists, palliative care teams, hospice medical teams, insurers, drug manufacturers, caregivers, and patients to have a frank, well-informed discussion of what a patient needs to maximize the quality of life during a routine, disease-directed care as well as at the end-of-life.

Open access
Katja Kiseljak-Vassiliades Division of Endocrinology, Metabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA
Research Service Veterans Affairs Medical Center, Denver, Colorado, USA

Search for other papers by Katja Kiseljak-Vassiliades in
Google Scholar
PubMed
Close
,
Yu Zhang Division of Endocrinology, Metabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Yu Zhang in
Google Scholar
PubMed
Close
,
Stacey M Bagby Division of Medical Oncology, Department of Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Stacey M Bagby in
Google Scholar
PubMed
Close
,
Adwitiya Kar Division of Endocrinology, Metabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Adwitiya Kar in
Google Scholar
PubMed
Close
,
Nikita Pozdeyev Division of Endocrinology, Metabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Nikita Pozdeyev in
Google Scholar
PubMed
Close
,
Mei Xu Division of Endocrinology, Metabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Mei Xu in
Google Scholar
PubMed
Close
,
Katherine Gowan Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Katherine Gowan in
Google Scholar
PubMed
Close
,
Vibha Sharma Division of Endocrinology, Metabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Vibha Sharma in
Google Scholar
PubMed
Close
,
Christopher D Raeburn Department of Surgery, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Christopher D Raeburn in
Google Scholar
PubMed
Close
,
Maria Albuja-Cruz Department of Surgery, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Maria Albuja-Cruz in
Google Scholar
PubMed
Close
,
Kenneth L Jones Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Kenneth L Jones in
Google Scholar
PubMed
Close
,
Lauren Fishbein Division of Endocrinology, Metabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA
Research Service Veterans Affairs Medical Center, Denver, Colorado, USA

Search for other papers by Lauren Fishbein in
Google Scholar
PubMed
Close
,
Rebecca E Schweppe Division of Endocrinology, Metabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Rebecca E Schweppe in
Google Scholar
PubMed
Close
,
Hilary Somerset Department of Pathology; University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Hilary Somerset in
Google Scholar
PubMed
Close
,
Todd M Pitts Division of Medical Oncology, Department of Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Todd M Pitts in
Google Scholar
PubMed
Close
,
Stephen Leong Division of Medical Oncology, Department of Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA

Search for other papers by Stephen Leong in
Google Scholar
PubMed
Close
, and
Margaret E Wierman Division of Endocrinology, Metabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA
Research Service Veterans Affairs Medical Center, Denver, Colorado, USA

Search for other papers by Margaret E Wierman in
Google Scholar
PubMed
Close

Adrenocortical cancer (ACC) is an orphan malignancy that results in heterogeneous clinical phenotypes and molecular genotypes. There are no curative treatments for this deadly cancer with 35% survival at five years. Our understanding of the underlying pathobiology and our ability to test novel therapeutic targets has been limited due to the lack of preclinical models. Here, we report the establishment of two new ACC cell lines and corresponding patient-derived xenograft (PDX) models. CU-ACC1 cell line and PDX were derived from a perinephric metastasis in a patient whose primary tumor secreted aldosterone. CU-ACC2 cell line and PDX were derived from a liver metastasis in a patient with Lynch syndrome. Short tandem repeat profiling confirmed consistent matches between human samples and models. Both exomic and RNA sequencing profiling were performed on the patient samples and the models, and hormonal secretion was evaluated in the new cell lines. RNA sequencing and immunohistochemistry confirmed the expression of adrenal cortex markers in the PDXs and human tumors. The new cell lines replicate two of the known genetic models of ACC. CU-ACC1 cells had a mutation in CTNNB1 and secreted cortisol but not aldosterone. CU-ACC2 cells had a TP53 mutation and loss of MSH2 consistent with the patient’s known germline mutation causing Lynch syndrome. Both cell lines can be transfected and transduced with similar growth rates. These new preclinical models of ACC significantly advance the field by allowing investigation of underlying molecular mechanisms of ACC and the ability to test patient-specific therapeutic targets.

Free access
Nikita Pozdeyev Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA
Division of Biomedical Informatics & Personalized Medicine, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA

Search for other papers by Nikita Pozdeyev in
Google Scholar
PubMed
Close
,
Lauren Fishbein Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA
Division of Biomedical Informatics & Personalized Medicine, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA

Search for other papers by Lauren Fishbein in
Google Scholar
PubMed
Close
,
Laurie M Gay Foundation Medicine Inc., Cambridge, Massachusetts, USA

Search for other papers by Laurie M Gay in
Google Scholar
PubMed
Close
,
Ethan S Sokol Foundation Medicine Inc., Cambridge, Massachusetts, USA

Search for other papers by Ethan S Sokol in
Google Scholar
PubMed
Close
,
Ryan Hartmaier Foundation Medicine Inc., Cambridge, Massachusetts, USA

Search for other papers by Ryan Hartmaier in
Google Scholar
PubMed
Close
,
Jeffrey S Ross Foundation Medicine Inc., Cambridge, Massachusetts, USA
Departments of Pathology and Urology, Upstate Medical University, Syracuse, New York, USA

Search for other papers by Jeffrey S Ross in
Google Scholar
PubMed
Close
,
Sourat Darabi Hoag Family Center Institute, Newport Beach, California, USA

Search for other papers by Sourat Darabi in
Google Scholar
PubMed
Close
,
Michael J Demeure Hoag Family Center Institute, Newport Beach, California, USA
Translational Genomics Research Institute, Phoenix, Arizona, USA

Search for other papers by Michael J Demeure in
Google Scholar
PubMed
Close
,
Adwitiya Kar Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA

Search for other papers by Adwitiya Kar in
Google Scholar
PubMed
Close
,
Lindsey J Foust Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA

Search for other papers by Lindsey J Foust in
Google Scholar
PubMed
Close
,
Katrina Koc Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA

Search for other papers by Katrina Koc in
Google Scholar
PubMed
Close
,
Daniel W Bowles Division of Medical Oncology, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus, Aurora, Colorado, USA

Search for other papers by Daniel W Bowles in
Google Scholar
PubMed
Close
,
Stephen Leong Division of Medical Oncology, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus, Aurora, Colorado, USA

Search for other papers by Stephen Leong in
Google Scholar
PubMed
Close
,
Margaret E Wierman Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA
Research Service Veterans Affairs Medical Center, Aurora, Colorado, USA

Search for other papers by Margaret E Wierman in
Google Scholar
PubMed
Close
, and
Katja Kiseljak-Vassiliades Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado School of Medicine at Colorado Anschutz Medical Campus Aurora, Aurora, Colorado, USA
Research Service Veterans Affairs Medical Center, Aurora, Colorado, USA

Search for other papers by Katja Kiseljak-Vassiliades in
Google Scholar
PubMed
Close

Despite recent advances in elucidating molecular pathways underlying adrenocortical carcinoma (ACC), this orphan malignancy is associated with poor survival. Identification of targetable genomic alterations is critical to improve outcomes. The objective of this study was to characterize the genomic profile of a large cohort of patient ACC samples to identify actionable genomic alterations. Three hundred sixty-four individual patient ACC tumors were analyzed. The median age of the cohort was 52 years and 60.9% (n = 222) were female. ACC samples had common alterations in epigenetic pathways with 38% of tumors carrying alterations in genes involved in histone modification, 21% in telomere lengthening, and 21% in SWI/SNF complex. Tumor suppressor genes and WNT signaling pathway were each mutated in 51% of tumors. Fifty (13.7%) ACC tumors had a genomic alteration in genes involved in the DNA mismatch repair (MMR) pathway with many tumors also displaying an unusually high number of mutations and a corresponding MMR mutation signature. In addition, genomic alterations in several genes not previously associated with ACC were observed, including IL7R, LRP1B, FRS2 mutated in 6, 8 and 4% of tumors, respectively. In total, 58.5% of ACC (n = 213) had at least one potentially actionable genomic alteration in 46 different genes. As more than half of ACC have one or more potentially actionable genomic alterations, this highlights the value of targeted sequencing for this orphan cancer with a poor prognosis. In addition, significant incidence of MMR gene alterations suggests that immunotherapy is a promising therapeutic for a considerable subset of ACC patients.

Restricted access