Long‐term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan

Abstract

Background: Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytosis in children. The mortality and morbidity of JXG with extracutaneous lesions remain unclear. Methods: Data of patients aged < 18 years who were diagnosed with JXG between 2001 and 2010 were retrospectively collected through a nationwide survey.Results: Twenty patients (11 male and nine female) had extracutaneous lesions. The median observation time was 10 years (range, 0-17). Six patients presented with symptoms at birth. The median age at diagnosis was 8.5 months (range, 0 month-13 years). Fifteen patients underwent treatment for JXG, including chemotherapy (n = 11), and five did not receive treatment. All patients except one survived; 17 were disease-free and two survived with disease. One newborn-onset patient with liver, spleen, and bone marrow involvement died of the disease. Permanent sequelae included central diabetes insipidus, growth hormone deficiency, and panhypopituitarism detected at diagnosis in three, one, and two patients, respectively. Four patients had visual impairment (optic nerve compression and intraocular invasion in two each), three had epilepsy, one had mental retardation, and one had a skin scar. Eight patients who had intracranial lesions were older at diagnosis, and had a higher frequency of disease-related comorbidities and permanent sequelae than those without intracranial involvement. Conclusions:Patients with extracutaneous JXG had good outcomes, although those with intracranial lesions had serious permanent sequelae. Effective and safe treatment regimens for patients with intracranial JXG need to be developed.

Clinical Analysis of Pediatric Systemic Juvenile Xanthogranulomas: A Retrospective Single-Center Study

“…In this study, we described clinical characteristics and treatment of 10 patients with systemic JXG, including 7 patients with intracranial lesions. This retrospective study showed that the patients with systemic JXG were mostly boys (males to females = 4:1), which is consistent with previous reports ( 10 , 11 ). In terms of the age of onset, it was previously reported that 15–20% of patients had lesions at birth and that more than 75% had lesions within their first year of life ( 12 ).…”

ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition

“…Moreover, ECD patients are generally older, with a median age of 55 years 2,63 , as opposed to a median age of 14.5 years of our Group 1B patients. Apart from the specific phenotypic entity that is ECD, there exists the constellation of "extracutaneous/systemic JXG" 68,69 , referring to the rare disease in childhood with JXG histology involving extracutaneous tissues. In a recent series of "systemic JXG", associations were observed between specific molecular alterations and clinical phenotypes, with ALK rearrangements overrepresented in female cases and cases with lung involvement 68 .…”

Isolated endobronchial juvenile xanthogranuloma: a case report

“…According to Kraus et al, neither the presence of S-100 nor the absence of XIIIa precludes the diagnosis [9]. Recent studies have reported BRAF and MAP2K1 gene mutations in the course of JXG [10]. In our case, molecular diagnostics have not been performed yet.…”

“…Regression of pulmonary lesions after administration of chemotherapy with vinblastine was observed [11]. Maeda et al described the use of both vinblastine and cytarabine in the treatment of pulmonary JXG lesions [10].…”