Audrone Muleviciene, Lithuania
Children’s Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos Center for Paediatric Oncology and HematologyPresenter of 1 Presentation
CHILDHOOD KAPOSI SARCOMA RELATED TO CORONIN-1A DEFICIENCY
Abstract
Background and Aims
Kaposi sarcoma (KS) is a rare neoplasm caused by human herpesvirus-8. It is typically associated with acquired immunodeficiency syndrome. Nevertheless, some cases result from primary immunodeficiency diseases (PID).
Methods
We report a case of childhood KS.
Results
A 4-year-old boy presented with purple and red macules as well as nodules on hands and legs. Within a few months, neck and groin lymph nodes were enlarged and two episodes of pneumonia occurred. The patient was screened for Tuberculosis, but the Mantoux test was negative. Subsequently, the patient developed generalized lymphadenopathy and was additionally tested for toxoplasmosis (positive). Because of the unusual presentation, a lymph node biopsy was performed and KS was diagnosed. HIV testing turned out to be negative. Further investigations revealed impaired cellular immunity: very low CD4+ (311-383 cells/mm3), CD19+ (130 cells/mm3) and nearly undetectable naïve T-helper and T-cytotoxic cells. T-cell receptor excision circles were also very low (0.001-0.004%), suggesting abnormal T-cell development. Whole genome sequencing revealed a missense variant in CORO1A c.415T>G (p.Trp139Gly) in hemizygous state due to the presence of a ~630kb deletion at the 16p11.2 region encompassing CORO1A on the other allele. Coronin-1A deficiency was confirmed by Western-blot analyses showing complete loss of protein expression. KS treatment with pegylated liposomal doxorubicin resulted in a good response, facilitating hematopoietic stem cell transplantation for PID from a sibling donor.
Conclusions
We report a new PID gene associated with KS and suggest that it is included in screening panels of new cases. Treatment of underlying PID could lead to the better KS outcomes.