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

Abstract

Objective: To investigate the clinical characteristics, treatment, and prognosis of children with systemic juvenile xanthogranuloma (JXG).Methods: Clinical data of children with JXG who were hospitalized in Beijing Children's Hospital, Capital Medical University, from January 2012 to December 2019 were retrospectively analyzed, including clinical manifestations, laboratory determinations, treatment, and prognosis of the children. Patients were treated with vindesine + prednisone as the first-line treatment and cytarabine + vindesine + dexamethasone ± cladribine as the second-line treatment.Results: Ten patients, including 8 males and 2 females, with a median of onset age of 1.95 (0.80–7.30) years, exhibited multi-system dysfunction. The median age of diagnosis was 2.45 (1.30–12.10) years. The most common location of extracutaneous lesions was the central nervous system (6 cases), followed by the lung (5 cases) and bone (4 cases). Nine patients underwent first-line chemotherapy, and 6 patients underwent second-line chemotherapy, including 5 patients with poorly controlled disease after first-line treatment. The median observation time was 29 (3–115) months. Nine patients survived, whereas one patient died of respiratory failure caused by pulmonary infection. At the end of follow-up, 7 patients were in active disease (AD)/regression state (AD-better), and 2 patients were in an AD/stable state (AD-stable). Three patients had permanent sequelae, mainly central diabetes insipidus. The rates of response to the first-line treatment and the second-line treatment were 40.0 and 66.7% respectively.Conclusion: The chemotherapy protocol for Langerhans cell histiocytosis (LCH) may be effective for patients with systemic JXG. Central nervous system involvement may not impact overall survival, but serious permanent sequelae may occur.

Alectinib In the Treatment of Systemic Juvenile Xanthogranuloma of Infancy With ALK Translocation

“…Systemic juvenile xanthogranuloma (SJXG) has higher morbidity and mortality rates than its cutaneous counterpart and usually requires aggressive treatment . Treatments for SJXG include prednisolone, vinblastine, and cladribine, based on Langerhans cell histiocytosis (LCH) methodologies . We report the cases of 2 infants with SJXG harboring ALK translocations who were successfully treated with a second-generation anaplastic lymphoma kinase (ALK) inhibitor, alectinib, with minimal adverse effects.…”

Systemic juvenile xanthogranuloma: A systematic review

“…Considering JXG derives from the dendritic cells, which belong to the myeloid lineage, the treatment regimens of acute myeloid leukemia such as methotrexate, clofarabine, cytarabine, and etoposide were also added to the combination therapy of SJXG. According to previous research, patients not profiting from the classical LCH‐based chemotherapy regimen may benefit from the combination of cladribine and cytarabine 8,17 . In our review, six cases received cytarabine and cladribine, but the efficacy was challenging to analyze due to the small samples and variety of chemotherapy drug types.…”

“…Patients with CNS involvement presented with a more significant male predominance and an older onset age. This may be due to the atypical and unspecific manifestation in the early stage, as previous research described 8 . The diagnosis of solitary CNS lesions remains difficult, because their location and radiological characteristics mimic other primary intracranial tumors, such as meningioma, nerve sheath tumor, ependymoma, glioma, and Rosai–Dorfman disease 9,10 .…”

“…This may be due to the atypical and unspecific manifestation in the early stage, as previous research described. 8 The diagnosis of solitary CNS lesions remains difficult, because their location and radiological characteristics mimic other primary intracranial tumors, such as meningioma, nerve sheath tumor, ependymoma, glioma, and Rosai-Dorfman disease. 9,10 Due to the nonspecific imaging characteristics of CNS involvement, biopsy and immunochemistry play a crucial role in diagnosing solitary CNS involvement.…”

“…According to previous research, patients not profiting from the classical LCH-based chemotherapy regimen may benefit from the combination of cladribine and cytarabine. 8,17 In our review, six cases received cytarabine and cladribine, but the efficacy was challenging to analyze due to the small samples and variety of chemotherapy drug types. The use of molecular therapeutic regimens targeting the BRAFV600E mutation and ALK mutation was reported in several cases with satisfactory efficacy.…”