Notable therapeutic response in a patient with systemic juvenile xanthogranuloma with KIF5B‐ALK fusion

Sugiyama, Minako; Hirabayashi, Shinsuke; Ishi, Yukitomo; Kikuchi, Junko; Ishikura, Ayako; Motegi, Hiroaki; Ueda, Yuki; Sawai, Saori; Hara, Kazuya; Terashita, Yukayo; Cho, Yuko; Takakuwa, Emi; Honda, Susumu; Yamaguchi, Shigeru; Kinoshita, Ichiro; Manabe, Atsushi

doi:10.1002/pbc.29227

Cited by 6 publications

(5 citation statements)

References 17 publications

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“…Alectinib has been reported to show favorable clinical activity and is well‐tolerated by pediatric patients with ALK‐positive anaplastic large‐cell lymphoma who progressed under conventional chemotherapy. A notable therapeutic response to alectinib was also noted in a patient with SJXG with ALK translocation 22 . In one case report, two months after initiating alectinib administration, the subcutaneous lesions decreased in size 23 .…”

Section: The Treatment Modalities In Sjxgmentioning

confidence: 87%

“…A notable therapeutic response to alectinib was also noted in a patient with SJXG with ALK translocation. 22 In one case report, two months after initiating alectinib administration, the subcutaneous lesions decreased in size. 23 In addition, alectinib can pass through the brain‐blood barrier and is more effective than crizotinib against CNS lesions in JXG.…”

Section: The Treatment Modalities In Sjxgmentioning

confidence: 99%

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Frequent detection of genetic aberrations reveals novel pathogenesis and treatment modalities in systemic juvenile xanthogranuloma

Xu,

Ma,

Yao

et al. 2023

Pediatric Investigation

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Frequent detection of genetic aberrations reveals novel pathogenesis and treatment modalities in systemic juvenile xanthogranulomaJuvenile xanthogranuloma (JXG), the most common form of non-Langerhans cell histiocytosis (non-LCH), is generally confined to the skin during infancy and early childhood. 1 JXG rarely involves extracutaneous tissues or systemic organs, resulting in high morbidity and mortality rates. Clonality in JXG has been verified by histopathological and genetic analyses, which have shown it to be tumorous rather than a reactive disorder of JXG. 2 However, the exact etiopathogenesis of JXG remains unclear.Diverse organs and systems can be involved in systemic JXG (SJXG). The most common extracutaneous sites include the eyes, central nervous system (CNS), liver, and lungs. Compared with cutaneous JXG, SJXG usually requires more aggressive treatment. Conventionally, the first-line treatment for SJXG is based on chemotherapy used in Langerhans cell histiocytosis (LCH), such as corticosteroids and vinblastine, with various responses. 3 Alternative regimens include methotrexate, cladribine, and cytarabine when initial chemotherapy fails.In the past decade, genomic studies have been conducted on histiocytosis, including JXG, and distinctive genetic abnormalities have been discovered (e.g., BRAFV600E mutations and ALK translocations). 4,5 These novel genetic discoveries further confirmed the tumorigenesis of JXG and highlighted the possibility of therapeutic targets in refractory or severe cases. GENETIC ABERRATIONS IN THE PATHOGENESIS OF SJXGJXG is involved in the clonal proliferation of histiocytes by human androgen receptor assay (HUMARA). 2 However, the drivers of cell proliferation in JXG remain to be elucidated. Several cases of JXG have been reported

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Section: The Treatment Modalities In Sjxgmentioning

confidence: 87%

Section: The Treatment Modalities In Sjxgmentioning

confidence: 99%

Frequent detection of genetic aberrations reveals novel pathogenesis and treatment modalities in systemic juvenile xanthogranuloma

Xu,

Ma,

Yao

et al. 2023

Pediatric Investigation

View full text Add to dashboard Cite

show abstract

“…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 18,19 . Sugiyama et al.…”

Section: Discussionmentioning

confidence: 99%

“…The use of molecular therapeutic regimens targeting the BRAFV600E mutation and ALK mutation was reported in several cases with satisfactory efficacy. 18,19 Sugiyama et al reported an SJXG case with KIF5B-ALK fusion, and the patient achieved clinical improvement with alectinib therapy. The data about HSCT for the refractory or recurrent SJXG were rare.…”

Section: Discussionmentioning

confidence: 99%

Systemic juvenile xanthogranuloma: A systematic review

Zou

Wei

et al. 2023

Pediatric Blood & Cancer

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Objective: To perform a systematic review to investigate the available literature regarding systemic juvenile xanthogranuloma (SJXG) and report the population characteristics, clinical manifestation, therapy, and outcome. Review methods:A search of PubMed, Embase, and Cochrane Library for all articles published between 1981 and 2022 was performed with variations and combinations of the following search terms: extracutaneous, visceral, systemic, and juvenile xanthogranuloma (JXG). Data extracted included demographics, organ involvement, treatment, outcome, and permanent sequelae.Results: A total of 103 articles encompassing 159 patients met the inclusion criteria.The median onset age was 9 months, with a male predominance (61%). The distribution of major involved organs varied by age, and younger onset age was associated with more organ involvement. The most commonly involved site was the central nervous system (CNS) (40.9%), followed by the liver (31.4%), the lung (18.9%), and the eye (18.2%). At the termination of follow-up, 93 patients (58.5%) were alive with no disease, 56 (35.2%) were alive with disease, and 10 (6.3%) were dead of disease. There was a significant difference in outcome between patients with and without spleen involvement (p = .0003), and patients with spleen involvement suffered a higher risk of death.Permanent sequelae mainly comprised CNS symptoms and ocular manifestations. Conclusions: SJXG can involve varying numbers and combinations of extracutaneoussites. There is no standard therapy for SJXG and clinicians should choose individualized therapy modalities.

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“…Recent findings have demonstrated ALK-positive histiocytosis in older children and adults with single- or multisystemic conditions, extending the first observation of the disease as a systemic condition of infants. In addition, the common existence of KIF5B-ALK fusions has been documented [7] , and some patients have been successfully treated with ALK inhibition [ 2 , 8 , 9 ].…”

Section: Discussionmentioning

confidence: 99%

ALK-positive histiocytosis involving the cavernous sinus: A deceptive radiologic mimic of meningioma

Alizadeh¹,

Ravindran²,

Chkheidze³

et al. 2023

Radiology Case Reports

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Notable therapeutic response in a patient with systemic juvenile xanthogranuloma with KIF5B‐ALK fusion

Cited by 6 publications

References 17 publications

Frequent detection of genetic aberrations reveals novel pathogenesis and treatment modalities in systemic juvenile xanthogranuloma

Frequent detection of genetic aberrations reveals novel pathogenesis and treatment modalities in systemic juvenile xanthogranuloma

Systemic juvenile xanthogranuloma: A systematic review

ALK-positive histiocytosis involving the cavernous sinus: A deceptive radiologic mimic of meningioma

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