Molecular Diagnostics Laboratory

Cytogenetic analysis can help identify the most promising treatments, because therapies have been developed to target specific chromosomal abnormalities.

When the patient’s karyotype reveals a problem, Roswell Park’s Molecular Diagnostics Lab can zoom in even closer to find out what’s wrong. Testing in this lab is so sensitive that it can “detect one malignant cell in a mixture of 10,000 normal cells,” explains Petr Starostik, MD, Chief of Molecular Diagnostics. That makes it possible to learn far in advance whether a patient’s disease is returning after treatment. “Often, we can report recurrence several months before malignant cells reappear in the blood,” says Starostik. “It gives you more time to decide on the best treatment.” With earlier detection, the patient may also have more treatment options.

We work closely with the Cytogenetic Lab, Starostik emphasizes. “Cytogenetics gives you a wide-angle view of changes in the patient’s genome. With molecular methods, you can focus in to confirm a particular change and quantify the number of changes that took place. You can select just the most sensitive molecular marker available and use it to detect even a small amount of disease that may remain after treatment.”

Research aims to shed light on the chromosomal abnormalities we still don’t understand. Starostik’s work focuses on the role of genetic abnormalities in the development of blood cancers, primarily leukemia and lymphoma. By studying the molecular changes that occur in the earliest stages of those diseases, he hopes to develop new diagnostic tests that are even more sensitive.