Refractory/relapsed hodgkin lymphoma in cartilage hair hypoplasia-anauxetic dysplasia spectrum: Long-term HSCT-free remission in 2 pediatric siblings

Document Type

Case Report

Department

Haematology/Oncology

Abstract

Cartilage hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders are rare skeletal dysplasias caused by pathogenic variants in RMRP, associated with immune dysfunction and cancer predisposition. While non-Hodgkin lymphoma is more commonly seen, Hodgkin lymphoma (HL) is rarely reported, and its management in this setting remains unclear. We describe 2 siblings with genetically confirmed CHH-AD who developed relapsed/refractory EBV-positive classic HL. Both presented with short stature, atopy, recurrent infections, and elevated IgE. The brother was diagnosed with stage IV disease, and the sister with stage IIB. Despite receiving frontline chemotherapy, both relapsed within a year. Salvage therapy with gemcitabine/vinorelbine induced metabolic responses, followed by radiotherapy and consolidation with brentuximab vedotin. Autologous transplant was considered but declined by the family due to perceived risks. At 30 months follow-up, both remain in complete remission. Genetic testing confirmed a shared homozygous pathogenic RMRP variant. These cases expand the oncologic spectrum of CHH-AD to include HL, highlight the risk of aggressive disease and early relapse, and demonstrate that durable remission may be achieved without transplantation when consolidation with targeted therapy is feasible. Early recognition of CHH-AD features in HL patients may allow risk-adapted therapy and informed genetic counseling.

AKU Student

no

Publication (Name of Journal)

Journal of Pediatric Hematology/Oncology

DOI

10.1097/MPH.0000000000003158

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