Surprising Twists and Turns of a Bone Marrow Biopsy Journey

17. Cytogenetics and FISH: Unmasking Genetic Faults

Doctor holding flexible endoscope and biopsy forceps in hands. Photo Credit: Envato @svitlanah

Bone marrow biopsies are crucial for uncovering hidden genetic abnormalities. Cytogenetics involves analyzing chromosomes for structural or numerical changes, while FISH (Fluorescence In Situ Hybridization) uses fluorescent probes to detect specific gene mutations or deletions. These tests are vital for diagnosing certain blood cancers (e.g., CML, MDS) and predicting disease progression or treatment response, revealing deep genetic insights invisible through routine microscopy.

18. The "Dry Tap" Phenomenon

Embryologist researching female cells and preparing them for biopsy. Photo Credit: Envato @Iakobchuk

Occasionally, during the aspiration part of the biopsy, no liquid marrow can be drawn – this is known as a "dry tap." While it can be frustrating, it's not always a cause for alarm. It can indicate a condition like myelofibrosis (where marrow is replaced by scar tissue), or simply a technical difficulty. Even in a dry tap, the solid core biopsy still provides invaluable diagnostic information, demonstrating the procedure's robust adaptability.

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