Thursday, February 14, 2013
2013 - Multifocality rather than tumor location is a prognostic factor in upper tract urothelial carcinoma
Blogger's Note: this (abstract) is not specific to Lynch Syndrome mutations
ScienceDirect.com - Urologic Oncology: Seminars and Original Investigations - Multifocality rather than tumor location is a prognostic factor in upper tract urothelial carcinoma
Abstract
Objectives
Whether
a patient has urothelial carcinoma located within the renal pelvis or
ureter remains a controversial prognostic indicator in clinical urology.
We wished to evaluate whether tumor location is associated with
recurrence in patients undergoing nephroureterectomy for upper tract
urothelial cancer in a large volume patient cohort.
Subjects and methods
We
created a retrospective database of patients from 7 academic centers
throughout Canada who underwent nephroureterectomy for upper tract
urothelial carcinoma. Patient demographics as well as pathologic and
surgical factors were analyzed to evaluate any statistical association
between tumor location and overall survival, disease-free survival, and
disease-specific survival.
abstract: Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study : European Journal of Human Genetics
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study : European Journal of Human Genetics
Abstract
"Genome
sequencing has been rapidly integrated into clinical research and is
currently marketed to health-care practitioners and consumers alike. The
volume of sequencing data generated for a single individual and the
wide range of findings from whole-genome sequencing raise critical
questions about the return of results and their potential value for
end-users. We conducted a mixed-methods study of 311 sequential
participants in the NIH ClinSeq study to assess general preferences and
specific attitudes toward learning results. We tested how these
variables predicted intentions to receive results within four categories
of findings ranging from medically actionable to variants of unknown
significance. Two hundred and ninety-four participants indicated a
preference to learn their genome sequencing results. Most often,
participants cited disease prevention as their reason, including
intention to change their lifestyle behaviors. Participants held
positive attitudes, strongly perceived social norms and strong
intentions to learn results, although there were significant mean
differences among four categories of findings (P<0.01). Attitudes and
social norms for medically actionable and carrier results were most
similar and rated the highest. Participants distinguished among the
types and quality of information they may receive, despite strong
intentions to learn all results presented. These intentions were
motivated by confidence in their ability to use the information to
prevent future disease and a belief in the value of even uninterpretable
information. It behooves investigators to facilitate participants’
desire to learn a range of information from genomic sequencing while
promoting realistic expectations for its clinical and personal utility."
open access: European Journal of Human Genetics - To tell or not to tell ? A systematic review of ethical reflections on incidental findings arising in genetics contexts
European Journal of Human Genetics - To tell or not to tell ? A systematic review of ethical reflections on incidental findings arising in genetics contexts
Introduction
Incidental findings (IFs) can arise
in all medical contexts, though they have been most frequently reported
in neuroimaging, oncology and genetics settings.1 Examples include a brain aneurysm in a healthy control subject involved in neuroimaging research,1 a malignant skin tumor discovered during a woman’s routine breast cancer screening,2
and learning that someone is of higher risk of Alzheimer’s disease when
they present at a genetics clinic wanting to know if there is a genetic
cause for their cardiac condition.3
IFs have been defined as findings having potential health or
reproductive importance for an individual, discovered in the course of
conducting a particular study (in research, clinical care or screening)
but beyond the aims of that study.1
In recent years, much has been published on IFs in general and IFs arising in imaging contexts.1, 4, 5, 6 There is yet to be a systematic overview of IFs arising in genetics
contexts. This gap in the research is not because IFs do not occur in
genetics contexts......
open access: European Journal of Human Genetics - Crossing the boundary between research and health care: P3G policy statement on return of results from population studies
European Journal of Human Genetics - Crossing the boundary between research and health care: P3G policy statement on return of results from population studies
Altruistic offer or return?
In the past, the
default position for research projects was not to return any individual
results to participants. Innovative research findings need other studies
to confirm their validity. The research laboratories usually do not
have the quality assessment required in health care. Also, the funding
provided for research studies is often limited, so that recall of
participants for individual genetic counseling may not be possible
within the research budget.
open access: European Journal of Human Genetics - Population studies: return of research results and incidental findings Policy Statement
European Journal of Human Genetics - Population studies: return of research results and incidental findings Policy Statement
The Public Population Project in Genomics and Society (P3G) is a not-for profit international consortium with members from more than 40 countries. Its objective is to lead, catalyze, and co-ordinate international efforts and expertise in order to optimize the use of population studies, biobanks, research databases, and other similar health and social science research infrastructures. The year 2011–2012 witnessed a plethora of special issues of journals on the return of results but few discussed the particular situation of population studies that serve as resources for future unspecified research. P3G considers it important to propose a policy that distinguishes between the contexts of population research and disease (clinical) research involving patients and then delineates actual and future obligations. The objectives of this Policy Statement are to: (1) delineate the particular characteristics of population studies, (2) distinguish the circumstances surrounding access by researchers to such studies, and (3) develop a framework for the return of research results and incidental findings......
Wednesday, February 13, 2013
open access: 2012 - Clinicopathological Features and Management of Cancers in Lynch Syndrome
Clinicopathological Features and Management of Cancers in Lynch Syndrome
Abstract
Lynch syndrome (LS) is characterized by an autosomal dominant inheritance of the early onset of colorectal cancer (CRC) and endometrial cancer, as well as increased risk for several other cancers including gastric, urinary tract, ovarian, small bowel, biliary tract, and brain tumors. The syndrome is due to a mutation in one of the four DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. The majority of LS patients and families can now be identified, and the underlying mutation detected using genetic diagnostics. Regular surveillance for CRC and endometrial cancer has proved beneficial for mutation carriers. However, screening for other tumors is also recommended even though experiences in the screening of these tumors is limited. Prophylactic colectomy, prophylactic hysterectomy, and bilateral salpingo-oophorectomy may be reasonable options for selected patients with LS. This paper describes the features and management of LS.
1. Introduction
Lynch syndrome (LS), also referred to as hereditary non-polyposis colorectal cancer (HNPCC), is the most common form of hereditary colorectal cancer, accounting for 2–5% of all colorectal cancer (CRC) cases [1, 2]. The cancer predisposition in LS arises from germline mutations in any of the four DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2 [3]. The mutation carriers are at high risk for developing CRC and endometrial cancer at a young age [4]. Many other tumor types such as gastric, ovarian, small bowel, urinary, and biliary tract, as well as brain tumors, have also been associated with LS [5, 6]........
10. Conclusions
Knowledge of the tumor spectrum in Lynch syndrome is important in planning strategies for the management of patients with this syndrome. Screening proved beneficial only for CRC and endometrial cancer although screening for other tumors is also recommended. Family history is an important tool for identifying LS. Clinical criteria serve to select suspected cases for molecular studies, such as MSI analysis of the tumors or immunohistochemical analysis of the MMR proteins. It is now possible to undertake predictive genetic testing in family members once a mutation has been detected in a family. However, it is important to organize genetic counselling individually before genetic testing. Genetic testing allows clinical screening to target mutation carriers while excluding mutation-negative individuals from further examination.
open access: Clinical Utility Gene Card Update - Lynch Syndrome
Clinical Utility Gene Card Update
European Journal of Human Genetics (2013) 21, doi:10.1038/ejhg.2012.164; published online 15 August 2012
Update to: European Journal of Human Genetics (2010) 18, 1069; doi:10.1038/ejhg.2009.232; published online 27 January 2010
1. DISEASE CHARACTERISTICS
1.1 Name of the disease (synonyms)
Lynch syndrome/HNPCC.
1.2 OMIM# of the disease
276300, 613244.
1.3 Name of the analysed genes or DNA/chromosome segments
MLH1, MSH2, MSH6, PMS2, and EPCAM.......
Revised guidelines for the clinical management of Lynch syndrome (HNPCC)
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts -- Vasen et al. -- Gut
This Article
- Abstract
- Full text
"Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers,
and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2.
In 2007, a group of European experts (the Mallorca group) published
guidelines for the clinical management of LS. Since
then substantial new information has
become available necessitating an update of the guidelines. In 2011 and
2012 workshops
were organised in Palma de Mallorca. A
total of 35 specialists from 13 countries participated in the meetings.
The first step
was to formulate important clinical
questions. Then a systematic literature search was performed using the
Pubmed database
and manual searches of relevant
articles. During the workshops the outcome of the literature search was
discussed in detail.
The guidelines described in this paper
may be helpful for the appropriate management of families with LS.
Prospective controlled
studies should be undertaken to improve
further the care of these families."
Tolerance of the Small Bowel to Therapeutic Irradiation: A Focus on Late Toxicity in Patients Receiving Para-Aortic Nodal Irradiation for Gynecologic Malignancies
Tolerance of the Small Bowel to Therapeutic Irradiation: A Focus on Late Toxicity in Patients Receiving Para-Aortic Nodal Irradiation for Gynecologic Malignancies
Abstract
Objective: The recently published Quantitative Analysis
of Normal Tissue Effects in the Clinic (QUANTEC) recommends dose
constraints for acute small-bowel toxicity but does not fully address
dose constraints for late small-bowel toxicity and the maximum dose
tolerance of the small bowel. Radiation oncologists in practice
frequently face a challenge when deciding what maximum point dose to
accept in a patient's treatment plan. Given this lack of guidance for
maximum radiation dose tolerance on the small bowel, we performed a
literature search on the topic.
Methods: We searched PubMed for English language
publications up to December 2012 on pelvic and para-aortic lymph node
(PALN) irradiation for gynecologic malignancies. The search was
performed using the following key words: late small-bowel toxicity,
cervical cancer, endometrial cancer, ovarian cancer, gynecologic
malignancies, pelvic irradiation, PALN irradiation, extended-field
radiation therapy.
Prevalence and Prognostic Impact of Lymphadenectomy and Lymph Node Metastasis in Clinically Early-Stage Ovarian Clear Cell Carcinoma
Abstract:
Objectives:
The objective of this study was to estimate
the prevalence and prognostic impact of lymphadenectomy and lymph node
involvement in patients with ovarian clear cell carcinoma (OCCC) grossly
confined to the ovary.
Methods:
Patients with a diagnosis of OCCC grossly
confined to the ovary were identified from Surveillance, Epidemiology,
and End Results program from 1988 to 2007. Only surgically treated
patients were included.
Results:
One thousand eight hundred ninety-seven patients
with OCCC
Genomic analysis identifies micro RNA (miR-506) opponent for ovarian cancer - National Cancer Institute
Genomic analysis identifies micro RNA opponent for ovarian cancer - National Cancer Institute
NCI Cancer Center News
Deep genomic analysis identifies a micro RNA opponent for ovarian cancer
Researchers led by MD Anderson Cancer Center employed an extensive analysis of genomic information to identify a new, high-risk cohort of ovarian cancer patients, characterize their tumors, find a potential treatment and test it in mouse models of the disease. The exhaustive analysis that led to micro RNA 506 (miR-506) as a potential therapeutic candidate for advanced or metastatic ovarian cancer is the cover article in the Feb. 11 edition of Cancer Cell.Click here to read full press release
.Transitional cell-like morphology in ovarian endometrioid carcinoma: morphologic, immunohistochemical, and behavioral features distinguishing it from high-grade serous carcinoma
Abstract
Transitional
cell-like growth has been reported as a morphologic variant of
endometrioid adenocarcinoma in the uterus but is not well-described in
the ovary. We report the clinicopathologic features of a series of
ovarian endometrioid adenocarcinomas with transitional cell-like
morphology, emphasizing the distinction from its mimics, including
high-grade serous carcinoma, transitional cell carcinoma, and granulosa
cell tumor. Among a cohort of 71 ovarian endometrioid adenocarcinomas
surgically staged at our institution, 10 tumors (14%) exhibited
transitional cell-like morphology. Patient age ranged from 39 to 79
years (mean, 52 y). Five tumors were stage I, 2 were stage II, and 3
stage III. The tumors ranged from 8.5 to 23 cm, and the transitional
cell-like component occupied from 5% to 90% of the overall tumor, with
the remainder being conventional endometrioid adenocarcinoma. The most
compelling findings to support that this tumor pattern represents a
morphologic variant of endometrioid adenocarcinoma are that the
transitional cell-like components (1) merged directly and seamlessly
with the conventional endometrioid component; (2) contained areas of
mature or immature squamous differentiation; (3) lacked WT1
immunoexpression; (4) lacked the characteristic p53/p16 immunophenotype
of high-grade serous carcinoma; and (5) did not appear to independently
affect patient outcome. Two patients (20%) whose tumor contained
transitional cell-like morphology died, whereas 14 patients (23%)
lacking this morphology died. Although uncommon, transitional cell-like
morphology appears to be a variant growth pattern of ovarian
endometrioid adenocarcinoma that does not affect behavior and that
should be distinguished from high-grade serous carcinoma and
conventional ovarian transitional cell carcinoma.
paywalled: Ovarian metastasis from adenocarcinoma of the lung
Abstract
A case of a young woman, affected by an unresectable pulmonary adenocarcinoma, diagnosed by broncoscopy with biopsies and treated with platinum-pemetrexed based chemotherapy, with an incidental finding of a left ovarian mass. At ultrasound examination, a solid lesion was detected in the left ovary. Final pathology revealed an ovarian metastasis from low differentiate adenocarcinoma of the lung. This experience gives us an example of an ovarian metastasis from lung cancer, which at ultrasound examination appears as solid ovarian mass, with lobulated margins, moderate vascularisation, adjacent to normal ovarian parenchyma. This could mislead the examiner to an erroneous diagnosis of benign ovarian tumor.Conventional endometrioid adenocarcinomas of the endometrium recurring as clear cell tumors: comparative immunohistochemical analyses
Blogger's Note: of interest to those with dual malignancies; clear cell; abstract does not indicate any reference to Lynch Syndrome mutations; small study of 3 patients
Conventional endometrioid adenocarcinomas of the endometrium recurring as clear cell tumors: comparative immunohistochemical analyses
Abstract
"Endometrial carcinomas are known to have the potential for recurrences that are distinctly discordant at the morphologic and immunophenotypic levels from their antecedent primary tumors. This report describes 3 patients with stage I, low or intermediate grade, conventional endometrioid carcinomas that recurred at the vaginal apex as notably clear cell-rich, higher grade, histotypically ambiguous neoplasms...
paywalled: European cancer mortality predictions for the year 2013
Update: this paper is now open access
Blogger's Note: the abstract does not include ovarian cancer statistics
European cancer mortality predictions for the year 2013
Abstract
Background Estimated cancer mortality statistics were published for the years 2011 and 2012 for the European Union (EU) and its six
more populous countries......
Clinical Oncology News - By the Numbers: Cancer Drug Development
Clinical Oncology News - By the Numbers: Cancer Drug Development
Number of Drugs Under Clinical Development in Different Tumor Types
Source: Pharmaceutical Research and Manufacturers of America, 2012, Medicine in Development for Cancer
|
It takes 10 to 15 years, on average, for an experimental drug to travel from the lab to patients...........
Tuesday, February 12, 2013
open access: Health care costs associated with venous thromboembolism in selected high-risk ambulatory patients with solid tumors undergoing chemotherapy in the United States
Blogger's Note: in this study ovarian cancer VTE-associated costs were at the high end cost of the solid tumors
Background:
This study examines venous thromboembolism (VTE)-associated resource utilization and real-world costs in ambulatory patients initiating chemotherapy for selected common high-risk solid tumors.
Methods:
Health care claims data (2004–2009) from the IMS/PharMetrics® Patient-Centric database were collected for propensity score-matched adult cancer (lung, colorectal, pancreatic, gastric, bladder, or ovarian) patients initiating chemotherapy with VTE (n = 912) and without VTE (n = 2736).......
Results:
Cancer patients with VTE had approximately three times as many all-cause hospitalizations (mean 1.38 versus 0.55 per patient) and days in hospital (10.19 versus 3.37), and more outpatient claims (331 versus 206) than cancer patients without VTE (all P < 0.0001).
Ovarian Cancer Early Detection: Screening at Stanford School of Medicine | Canary Foundation
Ovarian Cancer Early Detection: Screening at Stanford School of Medicine | Canary Foundation
On behalf of the Canary Center at Stanford for Cancer Early Detection and the Stanford Institute for Cancer, the Canary Foundation is supporting the search for candidates to participate in the Novel Markers Trial Ovarian Cancer Screening Test. This is an important new research study looking at markers in the blood that may be used as an early detection test for ovarian cancer. If you fit the criteria, please consider joining the effort to reach the vision of living in a world of simple tests that identify and isolate cancer at its earliest, most curable stage.
Candidates are needed who fit the following criteria:- Healthy women
- Ages 45-80
- Have at least one ovary
- Of Ashkenazi Jewish descent
- Never given birth to a child (this counts as two risk factors)
- Never had a tubal ligation
- Used hormonal contraception (birth control pills) for less than a year in your life
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