Departments, Centers, & Programs:
55 Fruit Street
Boston, MA 02114-2696
- PhD, University of Chicago
- MD, University of Chicago Pritzker School of Medicine
- Residency, Brigham and Women's Hospital
- Fellowship, Brigham and Women's Hospital
American Board Certifications
- Anatomic Pathology, American Board of Pathology
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Endocrine tumors are challenging for pathologists in that they often appear benign under the microscope. Additionally, high levels of morphologic atypia in endocrine tumors do not equate with malignancy. Often, these diagnoses are highly subjective and may lead to a diversity of opinions. In endocrine pathology, the most straight-forward way to achieve diagnostic concordance is in the setting of tumor metastasis. Even in this circumstance, especially with paragangliomas, multifocal disease may be present and non-malignant. Thus, a challenge to our field is identifying morphologic, genomic and proteomic features that may determine the biological potential of particular tumors.
Genomic studies by The Cancer Genome Atlas identified known and novel genetic anomalies in thyroid and adrenal cancers. These findings are not the silver bullet that we were seeking, but they have certainly allowed us to better classify tumor types, like the reclassification of a particular thyroid tumor, the non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP), as benign. In tumors of the adrenal medulla and paraganglia, we have noted specific genetic anomalies associated with cancer syndromes, such as multiple endocrine neoplasia (MEN), Von Hippel Lindau (VHL), and Familial Paragangliomatosis (FP). These syndromes are associated with known mutations in RET (MEN), VHL (VHL) and SDH (FP) genes.
For as much as we know, we are stymied in our ability to predict how some tumors will behave, as a majority, for sure, have little biological potential, while some will ultimately kill the patient. So, in this, we have a conundrum. It is a classification problem, a treatment problem, and a perfect challenge for those interested in endocrine neoplasia to advance the field diagnostically along with our basic understanding of its pathophysiology.