Researchers: Missed cancer diagnoses tied to immune disorder - Kogonuso

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Oct 2, 2018

Researchers: Missed cancer diagnoses tied to immune disorder

Extra care should be taken to ensure an immune disorder doesn't obscure possible underlying cancers, according to a report issued by physicians specializing in the condition.

Researchers at the Cincinnati Children's Hospital said expediting hemophagocytic lymphohistiocytosis treatment may miss underlying malignancies that could end up being fatal to the patient. The findings were published Monday in the journal Pediatric Blood & Cancer.

Doctors frequently immediately treat HLH after a diagnosis because it progresses quickly by attacking vital organs and often causes death.

HLH occurs when too many activated immune cells called macrophages and lymphocytes are produced, usually during the first months or years of life. Primary HLH is triggered by hereditary genetic defects in immune cells and secondary HLH are fueled by infections, autoimmune disorders or malignancies. About half of secondary HLH cases in adults are associated with malignancy.

The median survival is less than 2 months to 6 months after diagnosis. And even with treatment, the five-year survival rate is 21 percent to 26 percent.

Symptoms may include fever, enlarged liver or spleen, decreased number of blood cells and neurological abnormalities.

"Our study found several cases where HLH diagnoses that fulfilled current criteria obscured the diagnosis of underlying malignancies," Dr. Ashish Kumar, of the Cincinnati Children's Cancer and Blood Diseases Institute, said in a press release. "This delayed curative therapy for the cancers."

Researchers urge simultaneous diagnoses.

"These issues can be remedied by using alternative and improved diagnostic techniques to also look for underlying malignancy prior to administering HLH therapy," he said.

A newer option noted in the study is flow cytometry-based immunological assays, which is a cell-analysis technique. Results can be obtained in a couple days, the researchers said.

The researchers believe secondary HLH has an associated malignancy among children higher than the estimate of 10 percent of children.

In their study, they closely evaluated nine patients diagnosed with HLH between the ages of 8 days to 30 years. Seven were referred to Cincinnati Children's after their HLH diagnosis.

Further investigations revealed that all but one of the nine patients had an underlying lymphoma, or cancer of the lymphatic system, and one patient had acute myeloid leukemia.

But for some it was too late.

Only two of the nine patients received full doses of chemotherapy because of infections and/or organ dysfunction and survived. Seven patients died from multi-organ failure with active malignancies still present. Two patients who were able to receive full-doses of chemotherapy and survive with no evidence of disease, according to the researchers.

Primary HLH can only be cured through bone marrow transplant, which has a high risk and isn't suitable for all patients. Standard recommended treatment is the same for primary and secondary HLH.

"The cases in this study highlight the importance of understanding there are limitations to current HLH diagnosis criteria, especially in detecting HLH that is associated with malignancy," Kumar said.
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