Molecular Diagnostics in Pathology: Time for a Next-Generation Pathologist?

Abstract

- Adequate evaluation of cytologic-based and tissue-based predictive diagnostic biomarkers largely depends on both proper pathologic characterization and customized processing of biospecimens. Moreover, increased requests for molecular testing have paralleled the recent, sharp decrease in tumor material to be analyzed-material that currently comprises cytology specimens or, at minimum, small biopsies in most cases of metastatic/advanced disease. Traditional diagnostic pathology has been completely revolutionized by the introduction of next-generation technologies, which provide multigene, targeted mutational profiling, even in the most complex of clinical cases. Combining traditional and molecular knowledge, pathologists integrate the morphological, clinical, and molecular dimensions of a disease, leading to a proper diagnosis and, therefore, the most-appropriate tailored therapy.

Tumor mutation burden: from comprehensive mutational screening to the clinic

“…In clinical practice, the testing of mutational burden should be performed early during the decision-making process in order to select the most appropriate first-line treatment. Thus, a sufficient quantity and quality of tumor samples is required [21, 38]. Nevertheless, biopsy collection can be difficult as patients who are candidates for immunotherapy often suffer from metastatic disease by definition and often present with poor performance status (PS).…”

Molecular Diagnostics in Pathology

“…To the Editor.-I congratulate Dr Matteo Fassan for his article in the Archives of Pathology & Laboratory Medicine (March 2018) 1 advocating a sweeping enhancement of pathology practice precipitated by the advancements in molecular pathologic science. This pattern is not new.…”

Needle Biopsy Adequacy in the Era of Precision Medicine and Value-Based Health Care

“…Curiously, among the technical limitations for obtaining adequate needle biopsy specimens, especially for molecular diagnostics, biopsy technique is not prominently cited. 10 As the technical demands for diagnostic quality and supplemental immunocytochemical or genomic information increase in the context of precision medicine, 11,12 issues of less-thanoptimal needle biopsy adequacy are becoming the limiting criteria for timely, precise, and cost-effective pathologic assessment of lesions. 13 Needle biopsy adequacy is even more limiting when these techniques are applied to assess responses to therapy: biopsy of lesions during therapy may have fewer cells of diagnostic relevance than pretreatment, and diagnostic cells for assessment may be present as a very small minority, intermixed and morphologically distorted by inflammation and reparative connective tissue.…”