(Lynch Syndrome) Epidemiology, diagnosis, preoperative evaluation and prognostic assessment of upper-tract urothelial carcinoma (UTUC)

abstract:
Epidemiology, diagnosis, preoperative evaluation and prognostic assessment of upper-tract urothelial carcinoma (UTUC)
 #lynchsyndrome

Purpose

Upper-tract urothelial carcinoma (UTUC) is a relatively uncommon disease with limited available evidence on specific topics. The purpose of this article was to review the previous literature to summarize the current knowledge about UTUC epidemiology, diagnosis, preoperative evaluation and prognostic assessment.

Methods

Using MEDLINE, a non-systematic review was performed including articles between January 2000 and February 2016. English language original articles, reviews and editorials were selected based on their clinical relevance.

Results

UTUC accounts for 5–10 % of all urothelial cancers, with an increasing incidence. UTUC and bladder cancer share some common risk factors, even if they are two different entities regarding practical, biological and clinical characteristics. Aristolochic acid (birthwort plant) plays an important role in UTUC pathogenesis in certain regions. It is further estimated that approximately 10 % of UTUC are part of the hereditary non-polyposis colorectal cancer spectrum disease. UTUC diagnosis remains mainly based on imaging and endoscopy, but development of new technologies is rapidly changing the diagnosis algorithm. To help the decision-making process regarding surgical treatment, extent of lymphadenectomy and selection of neoadjuvant systemic therapies, predictive tools based on preoperative patient and tumor characteristics have been developed.

Conclusions

Awareness regarding epidemiology, diagnosis, preoperative evaluation and prognostic assessment changes is essential to correctly diagnose and manage UTUC patients, thereby potentially improving their outcomes.

Frequency of germline PALB2 mutations among women with epithelial ovarian cancer (BRCA2)

abstract

Recent studies suggest that mutations in the partner and localizer of BRCA2 (PALB2) gene may predispose to ovarian cancer. It is of importance to clarify the prevalence and penetrance of PALB2 mutations in an unselected population so that clinical recommendations for prevention can be implemented. We evaluated the prevalence of germline mutations in PALB2 among 1421 epithelial ovarian cancer patients and 4300 European controls from the National Heart, Lung, and Blood Institute’s Exome Sequencing Project dataset. Clinical information was obtained from medical records and survival status was determined by linkage. PALB2 coding exons were sequenced using next generation sequencing technology. Of the 1421 patients, three (0.21 %) had a germline PALB2 mutation compared to two of the 4300 control subjects (0.05 %). The mean age at diagnosis was 59 years (range 55–62) and all three women died within 2 years of diagnosis. A PALB2 mutation was associated with a four-fold, albeit not significant, increased risk of ovarian cancer (OR = 4.55; 95 % CI 0.76–27.24; P = 0.10). These results suggest that germline PALB2 mutations are rare. The true effect of such mutations on ovarian cancer risk require further study before the clinical relevance of inherited PALB2 mutations is established.

Barriers to Genetic Testing in Newly Diagnosed Breast Cancer Pts: Do Surgeons Limit Testing?

abstract

 Conclusion

The largest barrier to genetic testing was lack of physician referral, therefore provider education must be improved. Appointments should be convenient and providers should proactively discuss the significant implications of testing results.

Keywords

• breast cancer;
• BRCA1;
• BRCA2;
• CHEK2;
• ATM;
• PALB2;
• MSH2;
• MUTYH;
• NBN;
• RAD51C;
• genetic counseling;
• genetic testing

Abstracts | Palliative Care in Oncology Symposium (search: ovarian/ovary - results = 5)

 Abstracts (searchs):

Search results for: "ovarian"

4 results found.

1. Determining priority symptoms of women with recurrent ovarian cancers: A Gynecologic Oncology Group study. | 2016 Palliative Care in Oncology Symposium Abstracts

... Location: Yerba Buena Ballroom, Salon 8 Determining priority symptoms of women with recurrent ovarian cancers: A Gynecologic Oncology Group study.Sub-category: Symptoms Category: Evaluation ...

Terms matched: 1  -  URL: /180/AbstView_180_173405.html

2. Time trade-offs in advanced ovarian cancer. | 2016 Palliative Care in Oncology Symposium Abstracts

... :00 PM Location: Yerba Buena Ballroom, Salon 8 Time trade-offs in advanced ovarian cancer.Sub-category: Advance care planning Category: Communication in Advanced Cancer Meeting ...

Terms matched: 1  -  URL: /180/AbstView_180_173380.html

3. Rolapitant for control of chemotherapy-induced nausea and vomiting (CINV) in patients with gynecologic cancer. | 2016 Palliative Care in Oncology Symposium Abstracts

... ), we assessed the efficacy and safety of rolapitant in patients with gynecologic (ovarian, uterine, or cervical) cancer. Endpoints included complete response (CR ...

Terms matched: 1  -  URL: /180/AbstView_180_173165.html

4. Differences in self-care behaviors by varying levels of caregiving intensity, performance, and well-being among family caregivers of patients with high-mortality cancer. | 2016 Palliative Care in Oncology Symposium Abstracts

... and ninety-four family caregivers of Medicare beneficiaries diagnosed with pancreatic, lung, brain, ovarian, head& neck, hematologic, or stage IV cancer completed measures of ...

Terms matched: 1  -  URL: /180/AbstView_180_172973.html

 

 

Search results for: "ovary"

1 result found.

1. The requirement of fentanyl patch in terminally ill patients with cancer. | 2016 Palliative Care in Oncology Symposium Abstracts

... n= 12), liver and bile duct (n= 7), ovary and uterus (n= 6), hematologic (n= 5) ...

Terms matched: 1  -  URL: /180/AbstView_180_173185.html

Index: Ultrasound in Obstetrics & Gynecology- Abstracts of the 26th World Congress (incl cancer)

Ultrasound in Obstetrics & Gynecology - Volume 48, Issue Supplement S1 - Abstracts of the 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy, 24–28 September 2016

eg. section on:

Managing ovarian masses

 

ASGO’s Fourth Biennial Meeting, Nov 12th to 14th, 2015

ASGO open access

 The Asian Society of Gynecologic Oncology (ASGO) was founded in 2008 with the aim of scientific exchange and collaboration, provision of educational opportunities, deepening friendship between members and ultimately improving care of women with gynecological cancer in Asia [¹]. ASGO has an important role as almost half of all gynecologic cancer deaths occur in Asia [²]. Asia itself is a diverse area with wide variations in access to health. Asians also have unique constitutional and genetic backgrounds, characteristics of disease, and socio-cultural issues [¹].....

  Over 450 delegates attended the meeting coming from 25 countries (Table 1, Fig. 1). The international non-Asian invited speakers were Jonathan Ledermann (UK), Dennis Chi (USA), Warner Huh (USA), Robert Coleman (USA), Eric Pujade-Lauraine (France), Gavin Stuart (Canada), Michael Bookman (USA), Christian Marth (Austria), and Peter Lim (USA).

Table 1

Number of registration and presentations by country

Country	Registration	Presentation
		Lecture	Oral*	Poster	Total
Austria	1	1			1
Bangladesh	1		1		1
Canada	3	1	1		2
China	26	5	8	10	23
Colombia	1				0
Czech Republic	1			1	1
France	1	2			2
Hong Kong	5	1	1		2
India	9		3	19	22
Indonesia	29	3	6	17	26
Japan	76	10	4	37	51
Korea	219	26	14	76	116
Laos	1				0
Malaysia	4	1	2	3	6
Nepal	1		1		1
Nigeria	1		1		1
Philippines	18		2	1	3
Saudi Arabia	1				0
Singapore	6	2	1	1	4
Spain	2				0
Taiwan	20	3	4	7	14
Thailand	12	3	3	12	18
USA	10	5			5
Vietnam	1				0
UK	1	1			1
Total	450	64	52	184	300

Facebook? Twitter? .... easy ways to follow: Ovarian Cancer and Us (blog)

 

Gene panel sequencing in familial Breast/Ovarian Cancer patients identifies multiple novel mutations also in genes others than BRCA1/2

 monocentric: Having or proceeding from a single center
                           ~~~~~~~~~~~~~~~~~~~~

abstract:
Gene panel sequencing in familial Breast/Ovarian Cancer patients identifies multiple novel mutations also in genes others than BRCA1/2 

 Breast and ovarian cancer (BC/OC) predisposition has been attributed to a number of high- and moderate to low-penetrance susceptibility genes. With the advent of next generation sequencing (NGS) simultaneous testing of these genes has become feasible. In this monocentric study we report results of panel-based screening of 14 BC/OC susceptibility genes (BRCA1, BRCA2, RAD51C, RAD51D, CHEK2, PALB2, ATM, NBN, CDH1, TP53, MLH1, MSH2, MSH6 and PMS2) in a group of 581 consecutive individuals from a German population with BC and/or OC fulfilling diagnostic criteria for BRCA1 and BRCA2 testing including 179 with a triple-negative tumor. Altogether we identified 106 deleterious mutations in 105 (18%) patients in 10 different genes, including 7 different exon deletions. Of these 106 mutations, 16 (15%) were novel and only six were found in BRCA1/2. To further characterize mutations located in or nearby splicing consensus sites we performed RT-PCR analysis which allowed confirmation of pathogenicity in 7 of 9 mutations analyzed. In PALB2 we identified a deleterious variant in six cases. All but one were associated with early onset BC and a positive family history indicating that penetrance for PALB2 mutations is comparable to BRCA2. Overall, extended testing beyond BRCA1/2 identified a deleterious mutation in further 6% of patients. As a downside, 89 variants of uncertain significance were identified highlighting the need for comprehensive variant databases. In conclusion, panel testing yields more accurate information on genetic cancer risk than assessing BRCA1/2 alone and wide-spread testing will help improve penetrance assessment of variants in these risk genes.

Agenda: Sept 12/13: 11th Biennial Ovarian Cancer Research Symposium at U of Washington, Seattle, WA

Agenda

Health Canada to change standards for natural health products

The Globe and Mail

Epigenetics and Immunotherapy: Confusing Cancer Cells (video 4:17)

Oncologytube (short plain english language interview - 2015)