Rare Tumors: New technologies in tumor diagnosis, imaging and molecular analysis

Rare Tumors: New technologies in tumor diagnosis, imaging and molecular analysis

They represent about 22% of all cancers diagnosed worldwide.

They concern tumors of the oral cavity and pharynx, respiratory (tumors of the nose, inner ear), digestive (tumors of the anus, small intestine, gallbladder, retroperitoneum) and urogenital system (tumors of the vagina, vagina, urethra, penis) and bone and soft tissue tumors, breast tumors in men, tumors of the eye and orbit, mesothelioma.

Rare tumors are a difficult subject to study and the reasons are multifactorial. In principle, data on the etiology of rare tumors are limited mainly because of the small number of cases, difficulties arise in both diagnosis and histological identification. Rare tumors are characterized by their pathological examination and due to their rarity the probability of interpretive errors remains significantly high, ranging from 25 to 40%, in daily clinical practice.

How are they diagnosed?
Important factors that affect diagnostic accuracy include the degree of specialization, the lack of experience, the variability within and between observers, and the inadequacy of the tumor material examined. In addition, despite the improvement of treatment options in rare tumors, mortality rates have not yet been reduced.

All of the above make it imperative to improve diagnostic accuracy, both at the pathological level and at the imaging level, in order to minimize interpretive errors and, therefore, to make appropriate treatment options.

Due to the rarity of these tumors, their treatment is an intractable problem. Published data on optimal approaches to the diagnosis and treatment of rare tumors are limited. Although treatments for rare cancers are improving, they are still poorly documented and remain substantially empirical, leaving clinicians with many challenges.

An additional obstacle to better treatment of these tumors is the inherent difficulties of logistical support in conducting clinical trials in very small patient populations, the reluctance of the pharmaceutical industry to spend on small markets and the complexity of creating sufficient information to develop cost-effective drugs.

In an effort to address this issue and encourage the development of international clinical trials for rare cancers, the International Rare Cancers Initiative (IRCI) was established in early 2011. IRCI is a joint initiative of the National Institutes of Health Research Cancer Research Network (NCRN), the Cancer Research UK (CR -UK), the National Cancer Institute (NCI) and the European Agency for Research and Treatment of Cancer (EORTC) .

The goal of IRCI is to facilitate international clinical trials for rare tumors with the goal of developing new treatments. IRCI brings together international professionals and specialists in rare cancers and related teams who have the ability to conduct clinical trials across national borders.

The creation of specialized centers (center of excellence), the high suspicion, for a rare tumor, the best imaging techniques led to an increase in the frequency of their detection at earlier stages.
It should be noted that the prospects for the treatment of rare tumors have improved in recent years due to the ability to control the molecular profile and these tumors through next generation sequencing (NGS) technology. This method detects specific genetic changes in tumors, which can be drug-targeted and lead to a fully individualized treatment of the disease.

in conclusion
Rare tumors are tumors with a low incidence that the integrated treatment requires a specialized group of different specialties which using new technologies in both diagnosis, imaging and molecular analysis will select the most appropriate treatment to achieve the optimal result.

Nikolaidis Adamantia Pathologist Oncologist
Deputy Director of MITERA Oncology Clinic

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