Using Jakafi (ruxolitinib) to treat a woman with polycythemia vera (PV; a blood cancer) led to complete resolution of her cutaneous sarcoidosis, and to mild reduction of her lung nodules, according to a case report.
The findings suggest a new therapeutic strategy, especially for patients with cutaneous sarcoidosis, the researchers noted.
The study, ”Resolution of cutaneous sarcoidosis after Janus kinase inhibitor therapy for concomitant polycythemia vera,” was published in the journal JAAD Case Reports.
PV is a slow-growing blood cancer characterized by excessive generation of red blood cells and abnormal signaling mediated by the JAK2 protein. Although alterations in this pathway — called the JAK/STAT pathway — have been shown in sarcoidosis and linked with its severity, studies reporting an association between sarcoidosis and PV are rare.
Now, a team at the University of Pennsylvania described the case of an African-American woman in her 60s with evidence of PV caused by a JAK2 gene mutation. She had a 12-month history of subcutaneous (under-the-skin) nodules in the bilateral triceps, but no cough, shortness of breath, ocular manifestations, or joint pain.
Her PV was treated with daily aspirin and phlebotomy to remove the extra red blood cells as needed.
A physical test confirmed the presence of the subcutaneous nodules in the arms, while a punch biopsy revealed sarcoidal granulomatous dermatitis, manifested as skin rash. Chest computed tomography showed extensive hilar lymphadenopathy — enlarged lymph nodes in the lung root — as well as several pulmonary nodules.
The patient also showed a mild decrease in lung function, although she denied experiencing respiratory symptoms.
The size of her skin lesions decreased upon local steroid injections, although multiple nodules remained. Systemic therapy was put off.
Eight months later, the patient experienced headaches, and her increased blood counts did not respond to phlebotomy procedures. She was started on 10 mg of Jakafi (marketed by Incyte), a JAK1/JAK2 inhibitor, given twice daily.
After five months of treatment with Jakafi, the patient’s PV was responding well to treatment, and her sarcoidal skin lesions had completely resolved. Upon examinations made at seven and nine months, she showed mild lessening of the lung nodules and of the enlarged mediastinal lymph nodes, located between the lungs.
Of note, similar results — meaning a complete resolution of cutaneous disease, but a less marked response regarding pulmonary disease — have been observed with other targeted therapies for autoimmune conditions, including psoriasis and psoriatic arthritis, the researchers stated.
“Although the resolution of this patient’s sarcoidosis may be secondary to successful management of her PV, a more likely explanation is the direct suppression of sarcoidosis through JAK-STAT signaling inhibition,” the team said. “We conclude that JAK inhibitors may be a viable treatment option for sarcoidosis, especially cutaneous sarcoidosis, and further clinical and mechanistic studies are needed.”