Uveal Melanoma Biopsy: A Review

Abstract

Intraocular tumor diagnosis is based on clinical findings supported by additional imaging tools, such as ultrasound, optical coherence tomography and angiographic techniques, usually without the need for invasive procedures or tissue sampling. Despite improvements in the local treatment of uveal melanoma (UM), the prevention and treatment of the metastatic disease remain unsolved, and nearly 50% of patients develop liver metastasis. The current model suggests that tumor cells have already spread by the time of diagnosis, remaining dormant until there are favorable conditions. Tumor sampling procedures at the time of primary tumor diagnosis/treatment are therefore now commonly performed, usually not to confirm the diagnosis of UM, but to obtain a tissue sample for prognostication, to assess patient’s specific metastatic risk. Moreover, several studies are ongoing to identify genes specific to UM tumorigenesis, leading to several potential targeted therapeutic strategies. Genetic information can also influence the surveillance timing and metastatic screening type of patients affected by UM. In spite of the widespread use of biopsies in general surgical practice, in ophthalmic oncology the indications and contraindications for tumor biopsy continue to be under debate. The purpose of this review paper is to critically evaluate the role of uveal melanoma biopsy in ophthalmic oncology.

Association of clinical, instrumental and molecular genetic predictors with the risk of development and tumor progression of melanocytic intraocular neoplasms

“…УМ имеет большое количество диагностических и прогностических молекулярно-генетических маркеров, которые исследуются в ткани опухоли, полученной при ликвидационном лечении (энуклеации) или тонкоигольной аспирационной биопсии (ТИАБ) с последующей брахитерапией или криокоагуляцией [19,20]. Однако трансвитреальным доступом ТИАБ удается осуществить в 40 % случаев при проминенции менее 2,0 мм, что не позволяет в полной мере провести дифференциальную диагностику внутриглазных меланоцитарных опухолей и оценить особенности молекулярно-генетических аберраций [19]. В связи с этим возникает необходимость разработки новых современных методов дифференциальной диагностики меланомы хориоидеи на ранних стадиях развития.…”

Update on uveal melanoma: Translational research from biology to clinical practice (Review)

“…Pathological and genetic studies require invasive procedures to obtain biopsies; thus, the use of these methods in uveal melanoma is a matter of debate (189). The introduction of non-invasive diagnostic techniques, the validity of these genetic tests and even the emotional and ethical impacts for both patient and physician of the results (190) are some of the limitations of genetic risk determination.…”

Intratumoral Heterogeneity in Uveal Melanoma

“…The importance of an accurate prognostic information is vital for the selection of individualized screening and treatment plans. However, fine-needle aspiration biopsies have some drawbacks; apart from possible ophthalmological complications, low specimen yield and sample representativity are some of the concerns [3]. This is particularly important due to evidence of morphological and genetic heterogeneity in UM, which can lead to unpredictable tumoral behavior and compromise individualized prognostication [4].…”