Cancer diagnostics: The journey from histomorphology to molecular profiling

// Atif A. Ahmed 1 and Malak Abedalthagafi 2,3 1 Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, Missouri, USA 2 Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA 3 The Saudi Human Genome Laboratory, Department of Pathology, King Fahad Medical City, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia Correspondence to: Atif A. Ahmed, email: // Keywords : cancer diagnosis, histomorphology, targeted therapy, targeted molecular profile Received : May 10, 2016 Accepted : July 19, 2016 Published : August 04, 2016 Abstract Although histomorphology has made significant advances into the understanding of cancer etiology, classification and pathogenesis, it is sometimes complicated by morphologic ambiguities, and other shortcomings that necessitate the development of ancillary tests to complement its diagnostic value. A new approach to cancer patient management consists of targeting specific molecules or gene mutations in the cancer genome by inhibitory therapy. Molecular diagnostic tests and genomic profiling methods are increasingly being developed to identify tumor targeted molecular profile that is the basis of targeted therapy. Novel targeted therapy has revolutionized the treatment of gastrointestinal stromal tumor, renal cell carcinoma and other cancers that were previously difficult to treat with standard chemotherapy. In this review, we discuss the role of histomorphology in cancer diagnosis and management and the rising role of molecular profiling in targeted therapy. Molecular profiling in certain diagnostic and therapeutic difficulties may provide a practical and useful complement to histomorphology and opens new avenues for targeted therapy and alternative methods of cancer patient management.