abstract: Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature.

Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature.

Hum Pathol. 2012 Apr 17;


Abstract

Immunohistochemical detection of DNA mismatch repair proteins and polymerase chain reaction detection of microsatellite instability have enhanced the recognition of mismatch repair-deficient neoplasms in patients with Lynch syndrome and, consequently, led to the identification of tumors that have not been included in the currently known Lynch syndrome tumor spectrum.

Here, we report 4 such unusual tumors. Three of the 4, a peritoneal mesothelioma, a pancreatic acinar cell carcinoma, and a pancreatic well-differentiated neuroendocrine tumor, represented tumor types that, to the best of our knowledge, have not been previously reported in Lynch syndrome. The fourth tumor was an adrenocortical carcinoma, which has rarely been reported previously in Lynch syndrome. Three of our 4 patients carried a pathogenic germ-line mutation in a mismatch repair gene. The unusual tumor in each of the 3 patients showed loss of the mismatch repair protein corresponding to the mutation. The fourth patient did not have mutation information but had a history of colonic and endometrial carcinomas; both lacked MSH2 and MSH6 proteins. Interestingly, none of the 4 unusual tumors revealed microsatellite instability on polymerase chain reaction testing, whereas an appendiceal carcinoma from 1 of the study patients who was tested simultaneously did. The recognition of such tumors expands the repertoire of usable test samples for the workup of high-risk families.

As yet, however, there are no data to support the inclusion of these tumors into general screening guidelines for detecting Lynch syndrome, nor are there data to warrant surveillance for these tumors in patients with Lynch syndrome.

open access: Quality of Clinical Trials in Gastro‐Entero‐Pancreatic Neuroendocrine Tumours

 Blogger's Note:
rare ovarian cancer endocrine/carcinoid tumors exist, therefore, a possible interest in this paper,  there may have been ovarian cancer tumors included in a study/ies,  but without looking at each individual study,  this paper does not isolate references to ovarian/ovary

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Table 2 describes the study populations which may or may not have included OC endocrine/carcinoid tumors

Description of the study population in the 46 identified trials.

Characteristic

No. of Studies %

Tumour location

Pancreatic neuroendocrine tumour only

Carcinoid tumours only

Both tumours

With other endocrine cancer

Table 6. Search strategy to identify published phase II and III NET treatment trials.  (Blogger's Note: search included:  carcinoid, neuroendocrine, melanoma, thyroid but no references to 'ovarian' or 'ovary' nor any specifics in the supporting references)


Quality of Clinical Trials in Gastro‐Entero‐PancreaticNeuroendocrine Tumours

"In conclusion, we found that the quality of study design and reporting in NETs treatment trials published in the last decade is poor, especially for trials testing radionuclide treatment. While poor study design and reporting has been previously described for trials in other malignancies, some unique quality issues exist for NET trials such as the inclusion of heterogenous patient populations within individual studies coupled with poor reporting of study population parameters. This has a significant impact on trial interpretability both for clinical decision‐making and future trials.
In response, we include a list of recommendations to be considered in the design of future trials in this group of tumours to ensure that future trials provide a more informative picture of the risks and benefits of systemic therapy in this patient population. We hope that our study can serve as a baseline against which improvements in clinical trial design and reporting in this patient population can be compared."

New Therapies for Neuroendocrine Tumors (carcinoid tumors)

Note: Medscape requires (free) registration to view

Overview of Neuroendocrine Tumors: Focus on Carcinoid Tumors and Syndrome

Overview of Neuroendocrine Tumors: Focus on Carcinoid Tumors and Syndrome
Neuroendocrine tumors (NETs)

NETs: A common and heterogenous group of solid malignant tumors »

Carcinoid tumors: A frequently occurring GI malignancy »

NETs: Survival rates are correlated with extent of disease and tumor differentiation »

The rising incidence of carcinoid tumors »

Preliminary study of neuroendocrine differentiation and its mechanism in ovarian epithelial tumors

Note: abstract is in English/full free pdf file is in chinese

Abstract
OBJECTIVE: To investigate neuroendocrine differentiation and its mechanism in ovarian epithelial tumors.

Targeted therapies for rare gynaecological cancers : The Lancet Oncology

The Lancet Oncology, Early Online Publication, 1 April 2010

Targeted therapies for rare gynaecological cancers

Summary

Some gynaecological cancers are uncommon, such as sex cord-stromal tumours, malignant germ-cell tumours, vulvar carcinoma, melanoma of the female genital tract, clear-cell carcinoma of the ovary and endometrium, neuroendocrine tumours of the cervix, and gestational trophoblastic neoplasia.

All these cancers have different clinicopathological characteristics, suggesting different molecular biological pathogeneses. Despite aggressive treatment, some cancers recur or respond poorly to therapy. Comprehensive knowledge of the molecular biology of each cancer might help with development of novel treatments that maximise efficacy and minimise toxic effects. Targeted therapy is a new treatment strategy that has been investigated in various tumours in clinical and laboratory settings.

Since these cancers are rare and large clinical trials are difficult to do, molecular biological techniques might allow rapid proof-of-principle experiments in few patients. Novel targeted agents either alone or in combination with other treatments offer promising therapeutic options.