Teaching NeuroImage: Intradural ALK-Positive Histiocytosis With Involvement of Nerve Roots and Spinal Dura

Luo, Huanyu; Peng, Yun

doi:10.1212/wnl.0000000000200550

Cited by 3 publications

(2 citation statements)

References 2 publications

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“…A review of the literature revealed 17 previously published cases of ALK-H localized in the CNS, as summarized in Table 1. 6,[8][9][10][11][12] The age of patients ranged from 0 to 20 years old, and the median age was 7 years old. Six patients (35.3%) were male, and 11 (64.7%) were female.…”

Section: Discussionmentioning

confidence: 99%

Localized anaplastic lymphoma kinase–positive histiocytosis in a cerebellar hemisphere with long-term treatment: illustrative case

Kumagai,

Tanaka,

Iwasaki

et al. 2024

Journal of Neurosurgery: Case Lessons

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BACKGROUND Anaplastic lymphoma kinase (ALK)–positive histiocytosis (ALK-H) is an emerging entity in the category of histiocytic neoplasms that was first reported as a multisystemic disease in three infants in 2008. The clinicopathological spectrum of ALK-H has been expanded to include localized disorders in specific organs, but the features of this subtype are not well known. The authors report a case of ALK-H localized in the central nervous system that was difficult to treat and review the relevant literature. OBSERVATIONS The authors reviewed archival histiocytic tumors at their institute and found a pediatric case of ALK-H localized in a cerebellar hemisphere that had previously been reported as histiocytic sarcoma. Chemotherapy (approximately 1 year), additional surgery, and conventional chemotherapy (approximately 2.5 years) led to clinical remission, and maintenance chemotherapy was continued (approximately 1.5 years). Three years after completing treatment, a high-grade glioma was found in a cerebral hemisphere, and the patient died of the glioma 2 years later. LESSONS Although the prognosis of ALK-H is generally good according to prior cases, the authors’ case required long-term conventional chemotherapy, suggesting the tumor displayed aggressive characteristics. Early administration of ALK inhibitors may be necessary.

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Section: Discussionmentioning

confidence: 99%

Localized anaplastic lymphoma kinase–positive histiocytosis in a cerebellar hemisphere with long-term treatment: illustrative case

Kumagai,

Tanaka,

Iwasaki

et al. 2024

Journal of Neurosurgery: Case Lessons

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show abstract

“…Since 2008, more than 60 cases of ALK-positive histiocytosis have been reported in the literature [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] (see detailed information in Additional file 2: Table S3-5). In 2018, Chang et al classified ALK-positive histiocytosis into two types, systemic and localized, based on clinical manifestations [2].…”

Section: Discussionmentioning

confidence: 99%

Multisystem ALK-positive histiocytosis: a multi-case study and literature review

Liu

Wang

et al. 2023

Orphanet J Rare Dis

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Background Anaplastic lymphoma kinase (ALK)-positive histiocytosis, a novel rare histiocytic proliferation, was first described in 2008; it occurs in early infancy with liver and hematopoietic involvement. The spectrum was subsequently broadened to include localized diseases in older children and young adults. However, its full clinicopathological features and molecular lineage have not been fully elucidated. Results Here, we report four cases of multisystem ALK-positive histiocytosis without hematopoietic involvement. Clinically, three patients were adults aged between 32 and 51 years. Two patients’, whose main manifestations were intracranial mass and numerous micronodules in the thoracoabdominal cavity organs and skin papules respectively, had a partial response to ALK inhibitors after surgery. One patient presented with mediastinal neoplasm without surgical treatment, and progressive disease occurred after two years of ALK inhibitor therapy. The fourth patient was a 17-month-old male with a large intracranial mass and presented with a poor response to ALK inhibitor and chemoradiotherapy; he died eight months after surgery. Pathologically, the histiocytes were large, with abundant eosinophilic cytoplasm, and mixed with variable numbers of foamy cells and Touton giant cells. Interstitial fibrosis was also observed. Histiocytes were positive for macrophage markers (CD68 and CD163) and ALK. KIF5B-ALK fusions were detected in two cases, EML4-ALK in one, and both DCTN1-ALK and VRK2-ALK fusions were detected in one case. Conclusions We observed that ALK inhibitors present robust and durable responses in adult patients but a poor response in young children with central nervous system involvement. There is no consensus on the optimal treatment regimen and long-term prognosis requires further observation. Moreover, every unusual histiocytic proliferative lesion, especially unresectable and multisystem involvement, should be routinely tested for ALK immunohistochemical staining to identify this rare disease.

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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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Teaching NeuroImage: Intradural ALK-Positive Histiocytosis With Involvement of Nerve Roots and Spinal Dura

Cited by 3 publications

References 2 publications

Localized anaplastic lymphoma kinase–positive histiocytosis in a cerebellar hemisphere with long-term treatment: illustrative case

Localized anaplastic lymphoma kinase–positive histiocytosis in a cerebellar hemisphere with long-term treatment: illustrative case

Multisystem ALK-positive histiocytosis: a multi-case study and literature review

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

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