press release: Survey Reveals a Majority of Cancer Patients, Survivors Are Unaware of Higher Risk for Developing Deep-Vein Thrombosis and Pulmonary Embolism

Survey Reveals a Majority of Cancer Patients, Survivors Are Unaware of Higher Risk for Developing Deep-Vein Thrombosis and Pulmonary Embolism

NEW YORK, March 7, 2012 /PRNewswire/ — Focusing attention on patient groups at high risk for deep-vein thrombosis (DVT), the Coalition to Prevent DVT has found that a majority of people with cancer were not aware of an increased risk for DVT and its potentially fatal complication, pulmonary embolism (PE). Additionally, few had discussed their risk with their healthcare provider, according to a survey released by the Coalition as part of the ninth annual DVT Awareness Month.
Up to 2 million Americans are affected by DVT annually, and complications from DVT/PE kill up to 300,000 people in the U.S. each year – more than AIDS and breast cancer combined.^1,2 Up to 20 percent of all cases of DVT and PE occur in cancer patients,³ and DVT/PE are the second leading cause of death among cancer patients.⁴
“Almost anyone fighting cancer is at heightened risk for developing a DVT,” said Coalition steering committee member Craig Kessler, M.D., professor of medicine and pathology, Georgetown University Medical Center.........

AMA Approves Vermillion MAAA Category 1 Code for OVA1; Will it Improve Reimbursement? GenomeWeb (Medicare)

"Medicare reimbursement has been a point of concern for the company. As previously covered in PGx Reporter sister publication ProteoMonitor, there have been reports that Medicare has been denying OVA1 claims at a rate of more than 80 percent (PM 12/23/2011)."

Editorial: Never Enough Time for Patient Care — What Can We Do? | Journal of Participatory Medicine

Never Enough Time for Patient Care — What Can We Do? | Journal of Participatory Medicine

Defining “Patient-Centered Medicine” — NEJM comments open until March 8th

Defining “Patient-Centered Medicine” — NEJM

Perspective

Defining “Patient-Centered Medicine”

Charles L. Bardes, M.D.

N Engl J Med 2012; 366:782-783March 1, 2012

Comments open through March 8, 2012

Article

References

Comments (19)

no abstract: Sudden Death Related to Toxicity in a Patient on Capecitabine and Irinotecan Plus Bevacizumab Intake: Pharmacogenetic Implications

Sudden Death Related to Toxicity in a Patient on Capecitabine and Irinotecan Plus Bevacizumab Intake: Pharmacogenetic Implications:

Laetitia Dahan, Joseph Ciccolini, Alexandre Evrard, Litaty Mbatchi, Jack Tibbitts, Pauline Ries, Emmanuelle Norguet, Cedric Mercier, Athanassios Iliadis, L''Houcine Ouafik, Bruno Lacarelle, Jean-Francois Seitz
Feb 1, 2012; 30:41-44
DIAGNOSIS IN ONCOLOGY

abstract: American Society of Clinical Oncology Provisional Clinical Opinion: The Integration of Palliative Care into Standard Oncology Care

American Society of Clinical Oncology Provisional Clinical Opinion: The Integration of Palliative Care into Standard Oncology Care

Abstract

Purpose 

An American Society of Clinical Oncology (ASCO) provisional clinical opinion (PCO) offers timely clinical direction to ASCO's membership following publication or presentation of potentially practice-changing data from major studies. This PCO addresses the integration of palliative care services into standard oncology practice at the time a person is diagnosed with metastatic or advanced cancer. 

Clinical Context 

Palliative care is frequently misconstrued as synonymous with end-of-life care. Palliative care is focused on the relief of suffering, in all of its dimensions, throughout the course of a patient's illness. Although the use of hospice and other palliative care services at the end of life has increased, many patients are enrolled in hospice less than 3 weeks before their death, which limits the benefit they may gain from these services. By potentially improving quality of life (QOL), cost of care, and even survival in patients with metastatic cancer, palliative care has increasing relevance for the care of patients with cancer. Until recently, data from randomized controlled trials (RCTs) demonstrating the benefits of palliative care in patients with metastatic cancer who are also receiving standard oncology care have not been available.

open access (pdf): Endometrial cancer genomics and genetics (of interest to Lynch Syndrome women/dual malignancies eg. ovarian/uterine cancers)

Endometrial cancer genomics and genetics


Abstract: (click on pdf for full file)

Most sporadic endometrial cancers (ECs) can be histologically classified as endometrioid, serous, or clear cell.

Each histotype has a distinct natural history, clinical behavior, and genetic etiology. Endometrioid ECs have an overall favorable prognosis.

They are typified by high frequency genomic alterations affecting PIK3CA, PIK3R1, PTEN, KRAS, FGFR2, ARID1A (BAF250a), and CTNNB1 (β-catenin), as well as epigenetic silencing of MLH1 resulting in microsatellite instability.

Serous and clear cell ECs are clinically aggressive tumors that are rare at presentation but account for a disproportionate fraction of all endometrial cancer deaths. Serous ECs tend to be aneuploid and are typified by frequent genomic alterations affecting TP53 (p53), PPP2R1A, HER-2/ERBB2, PIK3CA, and PTEN; additionally, they display dysregulation of E-cadherin, p16, cyclin E, and BAF250a.  

The genetic etiology of clear cell ECs resembles that of serous ECs, but it remains relatively poorly defined. A detailed discussion of the characteristic patterns of genomic alterations that distinguish the three major histotypes of endometrial cancer is reviewed herein.

Estrogen-Only Therapy May Reduce Breast Cancer Risk --Doctors Lounge

open access: Future Medicine - Ethical considerations for biobanking: should individual research results be shared with relatives?

Ethical considerations for biobanking: should individual research results be shared with relatives?

The issue of returning individual research results (IRRs) is important and contentious. Indeed, Science magazine calls this, “…the most pressing issue in genetics today” [1]. At stake are several significant concerns, including public trust in, and support for, biomedical research, the wise use of limited research resources and the ethical obligations of the research community.

These concerns become even more complex and challenging with genetic biobank research. In this context, researchers must decide not only whether and how to share IRRs with donors, but also their relatives. After all, many genetic conditions have medical or personal significance for family members, and many ethical arguments for returning IRRs to donors might seem to extend to relatives as well [2].

This editorial briefly defends two important conclusions about these issues:

	▪ The case for sharing IRRs with relatives is no stronger, and almost certainly weaker, than for donors;
	▪ The case for returning IRRs to donors is not particularly convincing.

Taken together, these two claims support a strong presumption against sharing individual research findings with relatives.

Contrasting donors & relatives

The rationale for the first conclusion is straightforward. Outside of perhaps the general public itself, donors are the primary subjects to whom biobanks owe ethical consideration. Donors, not relatives, have explicitly (or, by not opting-out, implicitly) consented to their genetic materials being used by others. Donors’ interests are directly and powerfully affected by what happens in research. Their biological samples and health data reveal considerably more information about them than anyone else with whom they share partial genetic overlaps. Donors stand most fully and extensively to benefit from and/or be harmed by research. Hence, any obligations that biobanks have to donors’ relatives are weaker and narrower than to donors themselves.....cont'd

open access: Future Medicine - Personalized medicine in rare diseases

Personalized medicine in rare diseases

Definition of personalized medicine is not an easy issue [1–3,101]. It is moving from personalized medical practice to the modern concept of personalizing the science of medicine to improve individual healthcare. 

In many aspects personalized medicine refers to the translation of the interaction between the biological individuality of the patient and the environment into clinical medicine and healthcare. By the term personalized medicine we envision a complete integration of clinical (phenotype), genetic, genomic, transcriptomic, proteomic and metabolomic profiles with environmental (including nutritional) information that is provided for a particular person. The major expected consequence is to optimize preventive healthcare strategies and response to drug therapies while people are either healthy or in an early stage of the disease. Personalized medicine tries to move the population-based evidence of medical interventions towards individual evidence of how to treat the specific person based on the biological profile, clinical history and environment. The aim is to offer tailored healthcare to every person. The personalized medicine based on the integration of individual information, from the genome variation, physiology and cellular phenotype to the interaction with the personal environment, may represent a proactive, preventive and prospective model of healthcare [4–6] that is opposite to the more traditional, disease-based, reactive approach to the health status of individuals.

The fundamentals of genomic and personalized medicine and application of new technologies that may define personal biological profiles apply to every type of pathological process, disease or condition, whatever the main organ or tissue is involved in the disorder affecting the person.

abstract: Hormonal therapy for recurrent low-grade serous carcinoma of the ovary or peritoneum

Hormonal therapy for recurrent low-grade serous carcinoma of the ovary or peritoneum

Objective
To determine whether hormonal therapies have efficacy in patients with recurrent low-grade serous carcinoma of the ovary or peritoneum.

Methods
We searched departmental databases for patients with histologically-confirmed, evaluable, recurrent low-grade serous ovarian or peritoneal carcinoma who received hormonal therapy at our institution between 1989 and 2009. We retrospectively reviewed patients’ medical records for demographic, disease, hormonal therapy, and estrogen receptor and progesterone receptor expression data. We used the Response Evaluation Criteria in Solid Tumors version 1.1 to determine patients’ responses to hormonal therapy. Because patients could have received more than one evaluable hormonal therapy regimen, we chose to define the outcome metric as “patient-regimens.” Median time to disease progression (TTP) and overall survival (OS) were also calculated. Regression analysis was also performed.

Results
We identified 64 patients with recurrent low-grade serous carcinoma of the ovary or peritoneum. Patients’ median TTP and median OS were 7.4 and 78.2 months, respectively. Patients received 89 separate hormonal patient-regimens, which produced an overall response rate of 9% (6 complete responses and 2 partial responses). Sixty-one percent of the patient-regimens resulted in a 6-month progression-free survival duration of at least 6 months. Patient-regimens involving ER +/PR + disease produced a longer median TTP (8.9 months) than patient-regimens involving ER +/PR- disease did (6.2 months;p = 0.053). This difference approached but did not reach statistical significance.

Conclusions
Hormonal therapies have moderate anti-tumor activity in patients with recurrent low-grade serous carcinoma of the ovary or peritoneum. Further study to determine whether ER/PR expression status is a predictive biomarker for this rare cancer subtype is warranted.

Highlights

► Hormonal therapies have moderate anti-tumor activity in women with recurrent low-grade serous carcinoma of the ovary or peritoneum.
► Further study to determine whether ER/PR expression status is a predictive biomarker for this rare cancer subtype is warranted.
► Low-grade serous carcinoma of the ovary or peritoneum is a unique entity.

An American founder mutation in MLH1 (Lynch Syndrome mutation) International Journal of Cancer - Wiley Online Library

Abstract

Mutations in the mismatch repair genes cause Lynch syndrome (LS), conferring high risk of colorectal, endometrial and some other cancers. After the same splice site mutation in the MLH1 gene (c.589-2A>G) had been observed in four ostensibly unrelated American families with typical LS cancers, its occurrence in comprehensive series of LS cases (Mayo Clinic, Germany and Italy) was determined. It occurred in 10 out of 995 LS mutation carriers (1.0%) diagnosed in the Mayo Clinic diagnostic laboratory. It did not occur among 1,803 cases tested for MLH1 mutations by the German HNPCC consortium, while it occurred in three probands and an additional five family members diagnosed in Italy. In the U.S., the splice site mutation occurs on a large (∼4.8 Mb) shared haplotype that also harbors the variant c.2146G>A, which predicts a missense change in codon 716 referred to here as V716M. In Italy, it occurs on a different, shorter shared haplotype (∼2.2 Mb) that does not carry V716M. The V716M variant was found to be present by itself in the U.S., German and Italian populations with individuals sharing a common haplotype of 280 kb, allowing us to calculate that the variant arose around 5,600 years ago (225 generations; 95% confidence interval 183–272). The splice site mutation in America arose or was introduced some 450 years ago (18 generations; 95% confidence interval 14–23); it accounts for 1.0% all LS in the Unites States and can be readily screened for.

abstract: Surveillance and survival among adolescents and young adults with cancer in Ontario, Canada

Surveillance and survival among adolescents and young adults with cancer in Ontario, Canada:

Abstract

Gains in survival rates among adolescents and young adults (AYA) are reported from the USA to be lower than in both younger and older patients. Limiting factors include low accrual to clinical trials related to the type of institutional care. This study aimed to determine the incidence of cancer in the 15-29 age group in Ontario, and the 5 year survival of these cases by disease class, age at diagnosis group and highest level of institutional complexity of care. The primary data source was Cancer Care Ontario (CCO). Diseases were classified according to an AYA-specific system. Age at diagnosis was grouped as 15-19, 20-24 and 25-29 years; and institutional site of care was categorized as Pediatric Oncology Group of Ontario (POGO) centers, regional cancer centers (RCC – tertiary care centers associated with CCO), RCC affiliate and satellite institutions, and other institutions having no specialized cancer services. More than 10,000 incident cases were identified during 1990-2001. Carcinomas and lymphomas each accounted for >20% of the total. Overall 5 year survival rate was 83%; significantly higher for lymphomas at POGO centers and RCC than elsewhere. About 40% of eligible AYA cases were treated at a POGO center and 25% of those were accrued to clinical trials. The low proportion of adolescents referred to pediatric cancer centers may result in a survival disadvantage for this group. All AYA, especially with lymphomas, should be referred to specialized centers. Accrual of AYA to clinical trials must be improved substantially.

ESMO Patient Seminar 2012 - European Society for Medical Oncology (ESMO)

9th ESMO Patient Seminar

The 9th ESMO Patient Seminar, dedicated to cancer patients, family members, representatives of cancer leagues and patient groups, will open on Saturday afternoon, 29 September, with welcome speeches and keynote lectures, followed by a full day of sessions on Sunday, 30 September 2012.  The Seminar will cover a wide range of subjects, with the aim of encouraging direct interaction and communication between oncology patients and healthcare professionals.

open access - pdf: Risk-Reducing Bilateral Salpingo-Oophorectomy and Sexual Health: A Qualitative Study

Abstract
Objective: To examine the impact of risk-reducing bilateral salpingo-oophorectomy (RRBSO) on sexual function in BRCA gene
mutation carriers, compared with the effect on women undergoing
BSO (bilateral salpingo-oophorectomy) for benign indications from
a qualitative perspective.

Methods: 
Our study included 25 women who had undergone either
a RRBSO because of BRCA carrier status or a BSO for a benign
gynaecologic indication. Women were invited to participate if they
were at least six months post-BSO. They took part in an individual,
private interview during which they were asked open-ended
questions about their sexual health in the context of undergoing
BSO......

pdf file: A National Survey of Endoscopic Practice Among Gynaecologists in Canada

A National Survey of Endoscopic Practice Among Gynaecologists in Canada

Abstract

Objective:
To assess the current status of endoscopic gynaecological
surgery in Canada, as well as the attitudes, perceptions, and
educational preferences regarding endoscopy among Canadian
obstetrician-gynaecologists.

Methods:
An electronic online survey was sent to 630 obstetrician gynaecologists in Canada through the Society of Obstetricians
and Gynaecologists of Canada electronic mailing list. Survey
respondents were asked about demographic variables, level
of training and current practice of endoscopic procedures,
reasons for and barriers to performing endoscopy, and interest in
continuing surgical education in laparoscopy and hysteroscopy.


Results:
A total of 178 responses (28.3%) were collected and 152
(85.4%) analyzed. The majority of respondents were general
obstetrician-gynaecologists (78.0%). More gynaecologic surgeons
performed abdominal (92.7%) and vaginal hysterectomies (89.7%)
than laparoscopic (68.4%) and robotic hysterectomies (2.2%).
Even though 93.2% of respondents selected the endoscopic
approach as the preferred approach to surgery for their patients,
38.7% of respondents did not feel that they had adequate training
during residency to perform endoscopy. Lack of operating room
resources and lack of time and opportunity for further training were
frequently selected as major barriers to performing endoscopy.
Participants identified weekend continuing medical education
courses and trained endoscopic surgeon outreach as preferred
methods of acquiring endoscopic skills.

Conclusion:
This survey provides a contemporary assessment of
the current endoscopic practice patterns of Canadian obstetrician gynaecologists, and it helps to identify some potentially modifiable
factors hindering the practice of endoscopy and some possible
solutions to overcoming these barrier