Long-Term Follow-Up of Solitary Intracerebral Juvenile Xanthogranuloma

Fulkerson, Daniel H.; Luerssen, Thomas G.; Hattab, Eyas M.; Kim, Daniel L.; Smith, Jodi L.

doi:10.1159/000180303

Cited by 21 publications

(9 citation statements)

References 42 publications

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“…3,6,8,14 An isolated intraspinal juvenile xanthogranuloma in the first 12 months of life has not been described to date, and no long-term follow-up of intraspinal juvenile xanthogranuloma has been reported in the literature. Fulkerson et al described a child with a solitary intracerebral juvenile xanthogranuloma with a 3-year follow-up period 15 ; like our patient, the child remained asymptomatic after surgery. Immediate surgical decompression in the infant was crucial for complete neurologic recovery.…”

Section: Discussionsupporting

confidence: 59%

Isolated Intraspinal Juvenile Xanthogranuloma in an Infant Presenting as Acute Paraplegia

et al. 2012

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Juvenile xanthogranuloma is a histiocytic proliferative disease that predominantly affects the skin. Extracutaneous involvement is rare. We present the case of a 6-month-old infant with acute paraplegia. Magnetic resonance imaging showed an intraspinal extradural mass at midthoracic level with marked compression of the spinal cord. Complete tumor removal was achieved by emergency surgery and was followed by complete neurologic recovery. Histologic examination led to the diagnosis of a juvenile xanthogranuloma. To the best of our knowledge, an isolated intraspinal juvenile xanthogranuloma in the first 12 months of life has not been described before. Juvenile xanthogranuloma is a histiocytic proliferative disease which predominantly affects the skin. Extracutaneous involvement is rare. We present a 6 month old infant with an acute paraplegia. MR-imaging showed an intraspinal extradural mass at midthoracic level with marked compression of the myelon. Complete tumor removal was achieved by emergency surgery, followed by complete neurological recovery.Histological examination led to the diagnosis of a juvenile xanthogranuloma. To our best knowledge, an isolated intraspinal juvenile xanthogranuloma in the first 12 months of life has not been described before.

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Section: Discussionsupporting

confidence: 59%

Isolated Intraspinal Juvenile Xanthogranuloma in an Infant Presenting as Acute Paraplegia

et al. 2012

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“…10,19 The immunohistochemical examination is typically positive for CD68, but negative for CD1a and S100 protein. 8,10,11,19 Of the 29 cases, 17 were intracranial, 2,3,5,11,[13][14][15]18,29,31,33,34,36,38,39,42 9 were intraspinal, 6,7,11,17,24,25,32, 35,43 and 3 showed both intracranial and intraspinal lesions. 8,12,41 Only one case was in an adult.…”

Section: Discussionmentioning

confidence: 99%

Spontaneous regression of infantile dural-based non-Langerhans cell histiocytosis after surgery: case report

Miyake¹,

Ito²,

Tanaka

et al. 2015

PED

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The authors report the case of a large left occipital mass lesion in an 8-month-old boy who presented with seizure. Neuroimaging demonstrated an approximately 5-cm extraaxial tumor, and the patient underwent partial resection. The tumor was strongly attached to the tentorium and falx. In the postoperative course the residual lesion regressed spontaneously, and after 5 years only a slight residual tumor remained along the tentorium. Histopathological examination of the tumor revealed non-Langerhans cell histiocytosis (non-LCH). However, the tumor was not diagnosed as juvenile xanthogranuloma (JXG) because it lacked Touton giant cells. Hence, the authors described this lesion as a fibroxanthogranuloma. Most intracraniospinal non-LCHs have been reported as JXG; however, several cases of xanthomatous tumors with histopathological features resembling those of JXG have been described as fibrous xanthoma, xanthoma, fibroxanthoma, and xanthogranuloma. Among JXG and the xanthomatous tumors, a review of the literature revealed several cases of dural-based tumors; these dural-based tumors have had favorable courses, including the case described in this report. In addition, the patient in the present case experienced spontaneous regression of the residual tumor. The authors report this unique case and review the literature on isolated intracraniospinal non-LCHs, especially in cases of dural-based lesion.

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“…In general, CNS-JXG neoplasm are rare, often requiring surgical resection or chemotherapy [13, 36, 55, 58] and do not have the propensity to regress spontaneously, unlike their cutaneous JXG counterpart [58]. CNS-JXG neoplasm range from isolated CNS lesions to multifocal CNS lesions to those associated with systemic disease [6, 13, 22, 26, 27, 36, 58]. In adults, CNS based neoplasms with a JXG or xanthogranuloma pathologic phenotype are often the first and most debilitating manifestation of ECD.…”

Section: Introductionmentioning

confidence: 99%

BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease

Picarsic

Pysher

Zhou

et al. 2019

acta neuropathol commun

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The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% (n = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% (n = 10) were pediatric cases (≤18 years) and half (n = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [BRAF V600E: 7 years (3–12 y), vs. WT: 7.6 years (1–18 y)] but demonstrated a stronger male/female ratio (BRAF V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease ( BRAFV600E: 80% vs WT: 20%) and systemic disease (BRAF V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.

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Long-Term Follow-Up of Solitary Intracerebral Juvenile Xanthogranuloma

Cited by 21 publications

References 42 publications

Isolated Intraspinal Juvenile Xanthogranuloma in an Infant Presenting as Acute Paraplegia

Isolated Intraspinal Juvenile Xanthogranuloma in an Infant Presenting as Acute Paraplegia

Spontaneous regression of infantile dural-based non-Langerhans cell histiocytosis after surgery: case report

BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease

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