Screening for leukemia and lymphoma should be offered to patients with thalassemia when they have overlapping symptoms such as anemia, fatigue, and splenomegaly, according to an article published in Blood Reviews. Researchers looked at the risk of developing malignancies in patients with thalassemia and found that both patients with transfusion-dependent thalassemia (TDT) and patients with nontransfusion-dependent thalassemia (NTDT) appeared to have a 1.47-fold higher risk of developing a malignancy, especially a hematologic one.

There are very few studies examining the relationship between thalassemia and malignancies. Most of the epidemiological data are from nationwide, multicenter studies, though there have been a few case reports as well. The authors found that nationwide registries on mortality and morbidity in patients with thalassemia indicated an increase in incidence of solid and hematologic malignancies.

In regard to solid malignancies, studies suggest an increase in the incidence of thyroid cancer (mainly papillary carcinoma) in patients with thalassemia compared with the general population. There are not enough data to make a conclusion on renal cell carcinoma, and breast cancer appears to be extremely rare among patients with thalassemia.

“We thought it was important to investigate this connection because the establishment of optimal transfusion programs and the application of aggressive iron chelation therapy (ICT) supported by advancements in magnetic resonance imaging (MRI) have led to an increase in the life expectancy of patients with thalassemia. These advances, however, could not fully eradicate the underlying pathophysiology, and as such, we have witnessed the manifestation of several new morbidities,” said Ali Taher, MD, PhD, professor of medicine at the American University of Beirut Medical Center in Lebanon. “Although we were not surprised by the findings of the literature, we still do not know whether this connection is disease-related or age-related.”

He said screening for several malignancies in patients with thalassemia should be performed based on the type of cancer and the symptoms present in order to achieve early diagnosis and prompt treatment. Dr Taher and colleagues concluded that ICT remains the main method of prevention for malignancy development in patients with TDT and NTDT. They advocate the use of novel therapeutic agents for preventing hepatocellular carcinoma and surveillance with ultrasonography once a year for patients with TDT and twice a year for patients with NTDT.

The review examined different types of solid and hematologic malignancies that can develop in patients with thalassemia. The researchers also assessed possible predisposing factors and mechanisms behind the development of specific tumor types. They found that data are still scarce, and international multicenter studies are warranted in order to better understand the relationship between thalassemia and malignancies. Dr Taher and colleagues proposed the establishment of an international registry where all cases of malignancy in patients with thalassemia are reported on a yearly basis.

Felipe Samaniego, MD, associate professor of lymphoma and myeloma at the University of Texas MD Anderson Cancer Center in Houston, said that tracking the increasing incidence of cancers in some medical conditions, as well as potential treatments, is an important line of investigation. Observing these associations can often lead to experimental testing to determine whether one condition causes the other or whether the coexistence is simply unrelated.