Central nervous system involvement of systemic ALK-positive histiocytosis with KIF5B-ALK fusion

Aoki, Yuzuna; Maeda, Masayuki; Kishi, Seiya; Kogue, Ryota; Tanaka, Fumine; Umino, Maki; Takeoka, Mami; Hanaki, Ryo; Hirayama, Jun-ichiro; Yuasa, Hiroto; Imai, Hiroshi; Hirayama, Masahiro; Sakuma, Hajime

doi:10.1016/j.radcr.2022.07.072

Cited by 3 publications

(4 citation statements)

References 7 publications

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“…Treatment options are evaluated based on disease severity and site of involvement; these options include surgical excision, radiation therapy, medical treatment, and supportive care. 2,6–8 In the current case, positron emission tomography/computed tomography did not show any abnormalities in other systems. The patient is being observed without treatment and is symptom-free at 6 months following the procedure.…”

supporting

confidence: 44%

“…Radiological findings are not yet well established, as this condition is relatively new in the literature. 6 Histopathologic features consist of different morphologies, including foamy histiocytes with Touton giant cells reminiscent of classic xanthogranuloma, a more cellular type without the foamy histiocytes, and epithelioid or spindled histiocytes with abundant eosinophilic cytoplasm and folded or lobulated nuclei. Differential diagnosis of this disease is quite difficult due to its rarity and due to its shared morphological features with Langerhans cell histiocytosis, juvenile xanthogranuloma, Rosai-Dorfman disease, and Erdheim-Chester disease.…”

mentioning

confidence: 99%

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Letter to the Editor Regarding “Local ALK-Positive Histiocytosis with Unusual Morphology and Novel TRIM33::ALK Gene Fusion” by Tran et al.

et al. 2022

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supporting

confidence: 44%

mentioning

confidence: 99%

Letter to the Editor Regarding “Local ALK-Positive Histiocytosis with Unusual Morphology and Novel TRIM33::ALK Gene Fusion” by Tran et al.

et al. 2022

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“…The multimodal imaging findings of APH exhibited distinct characteristics: iso-dense or slightly hyperdense on CT, isointense or slightly hypointense on T1WI, iso-hypointense on T2WI, isointense or hyperintense on T2FLAIR, as well as moderate enhancement accompanied by punctate enhancement and/or ring enhancement on contrast-enhanced T1WI. The features observed in CT and MR images indicated dense arrangement of tumor cell or the presence of fibrous component (7). The majority exhibited no mass effect, which could potentially be associated with slow growth of tumors.…”

Section: Discussionmentioning

confidence: 93%

“…To date, less than 100 cases of APH have been reported. Previous relevant literature primarily focused on genetic characteristics, histopathology, treatment, and prognosis (2)(3)(4)(5)(6), with limited descriptions regarding imaging manifestations of this disease (7).…”

Section: Introductionmentioning

confidence: 99%

Imaging features of ALK-positive histiocytosis with neurological involvement: a case report and literature review

Wang,

Zheng,

Xiong

2024

Front. Oncol.

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BackgroundALK-positive histiocytosis is an exceptionally rare neoplasm of histiocytes that predominantly involves the nervous system and can also affect the skin and other parts of the body. Previous relevant literature has provided limited information regarding the imaging manifestations of this disease with neurological involvement.MethodsWe reported a case of ALK-positive histiocytosis with multisystem involvement. Together with a comprehensive literature review, the imaging characteristics of this disease in the nervous system were summarized.ResultsA 3-year-old girl with abdominal pain and ambulation difficulty checked in at the Department of Pediatric Neurology. The initial diagnosis was “acute cerebellitis with ataxia” based on the elevated protein level in the cerebrospinal fluid (CSF). However, despite 3 months of treatment, her condition deteriorated. MRI showed an oval-shaped, intradural extramedullary nodule at the T6–T7 level. The patient was ultimately diagnosed as ALK-positive histiocytosis, accompanied by cauda equina and skin involvement. The literature review showed a total of 23 patients who had involvement of the nervous system and provided imaging descriptions. Together with our case, the imaging features were summarized as follows: iso-dense or slightly hyperdense on computed tomography (CT), isointense or iso-hypointense on T2-weighted imaging (T2WI), moderate homogeneous enhancement with mildly/markedly punctate enhancement or/and smooth ring enhancement on contrast-enhanced T1-weighted imaging (T1WI), restricted diffusion on diffuse weighted imaging (DWI), and elevated fluorodeoxyglucose (FDG) uptake on positron-emission tomography/computed tomography (PET/CT).ConclusionThe multimodal imaging findings of ALK-positive histiocytosis exhibit distinct characteristics, familiarity with which will enhance radiologists’ expertise and facilitate accurate diagnosis of this disease.

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Neuroimaging manifestations of paediatric histiocytoses

Tan,

Lakshmanan,

Warne

et al. 2023

J Med Imag Rad Onc

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SummaryHistiocytoses are rare multi‐system disorders marked by abnormal histiocyte cell proliferation, affecting children with diverse clinical presentations. Classified into five groups in 2016, including Langerhans‐related (L), cutaneous (C), malignant (M), Rosai–Dorfman disease (R) and haemophagocytic lymphohistiocytosis (H), newer entities such as ALK‐positive histiocytosis have also emerged, heralding the era of molecular (sub)classification. Common entities include Langerhans cell histiocytosis (LCH), Erdheim–Chester disease (ECD), Rosai–Dorfman disease (RDD) and haemophagocytic lymphohistiocytosis (HLH). This pictorial essay aids radiologists in recognising and differentiating paediatric histiocytoses based on unique neuroimaging features.

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Central nervous system involvement of systemic ALK-positive histiocytosis with KIF5B-ALK fusion

Cited by 3 publications

References 7 publications

Letter to the Editor Regarding “Local ALK-Positive Histiocytosis with Unusual Morphology and Novel TRIM33::ALK Gene Fusion” by Tran et al.

Letter to the Editor Regarding “Local ALK-Positive Histiocytosis with Unusual Morphology and Novel TRIM33::ALK Gene Fusion” by Tran et al.

Imaging features of ALK-positive histiocytosis with neurological involvement: a case report and literature review

Neuroimaging manifestations of paediatric histiocytoses

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