Generalized eruptive histiocytosis associated with a novel fusion in LMNA-NTRK1

Pinney, Sarah S.; Jahan‐Tigh, Richard R.; Chon, Susan Y.

doi:10.5070/d3228032091

Cited by 8 publications

(3 citation statements)

References 9 publications

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“…We found one case report of LMNA-NTRK1 gene fusion in GEH [4]. To our knowledge, this is the first reported case of M-AXG harboring LMNA-NTRK1 gene fusion.…”

Section: Discussionmentioning

confidence: 68%

Adult xanthogranuloma with LMNA‐NTRK1 gene fusion – a possible driver of proliferation

Ramelyte

Imhof

et al. 2022

J Deutsche Derma Gesell

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Adult xanthogranuloma with LMNA-NTRK1 gene fusion -a possible driver of proliferationDear Editors, Adult xanthogranuloma (AXG) is a rare disorder with a broad spectrum of clinical manifestations, ranging from benign skin-limited to malignant forms with systemic involvement. We present a case of multiple AXG (M-AXG), harboring an LMNA-NTRK1 gene fusion. In solid tumors, NTRK gene fusion can occur in up to 1 % and is reported in many different tumor types (e.g. secretory breast carcinoma, infantile fibrosarcoma). Since recently, diseases with NTRK gene alterations can be targeted with tyrosine kinase inhibitors (TKIs).

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“…We found one case report of LMNA-NTRK1 gene fusion in GEH [4]. To our knowledge, this is the first reported case of M-AXG harboring LMNA-NTRK1 gene fusion.…”

Section: Discussionmentioning

confidence: 68%

Adult xanthogranuloma with LMNA‐NTRK1 gene fusion – a possible driver of proliferation

Ramelyte

Imhof

et al. 2022

J Deutsche Derma Gesell

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“…In regards to histiocytoses, rare cases of NTRK association have been reported. LMNA–NTRK1 fusion has been identified in a single patient with ECD, 10,14 IRF2BP2–NTRK1 fusion in a patient with disseminated progressive nodular histiocytosis, 19 and LMNA–NTRK1 fusion in a patient with generalized eruptive histiocytosis 20 …”

Section: Introductionmentioning

confidence: 99%

“…LMNA-NTRK1 fusion has been identified in a single patient with ECD, 10,14 IRF2BP2-NTRK1 fusion in a patient with disseminated progressive nodular histiocytosis, 19 and LMNA-NTRK1 fusion in a patient with generalized eruptive histiocytosis. 20 In regards to xanthogranulomas, a case of multiple AXG harboring an LMNA-NTRK1 fusion has been reported 21 and six further cases with NTRK1 fusion are presented in Durham et al 22 However, NTRK and its role in JXG and AXG has yet to be further and fully characterized.…”

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confidence: 99%

NTRK expression is common in xanthogranuloma and is associated with the solitary variant

et al. 2023

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BackgroundPreviously identified mutually‐exclusive driver genes in juvenile xanthogranuloma (JXG) and adult xanthogranuloma (AXG) include mutations in MAP kinase pathway genes such as MAP2K1, BRAF, ARAF, KRAS, NRAS, PIK3CD as well as fusions in BRAF and ALK, with a subset of cases with no identified driver yet. NTRK fusion has been identified in rare cases.MethodsWe identified two consecutive index cases of localized JXG or AXG with NTRK1 fusion by next‐generation sequencing (NGS) and confirmed by pan‐NTRK immunostain. We expanded the study to a total of 50 cases of JXG and AXG using screening by pan‐NTRK immunostain. We confirmed the specificity of our approach with negative results in 5 cases of histiocytic neoplasia lacking an NTRK fusion by NGS and 14 cases of non‐neoplastic histiocytic disease.ResultsWe found 23 cases of JXG or AXG with overexpression of NTRK by immunostain, and these cases were restricted to localized disease (23 of 43 cases, 53.5%) rather than disseminated disease (zero of seven cases).ConclusionsNTRK expression is common in JXG or AXG and associated with localized rather than disseminated disease. We speculate that the potential importance of this in JXG and AXG has not been previously appreciated due to the tendency to focus sequencing studies on disseminated disease. We confirm the presence of an NTRK1 fusion in two positive cases by NGS, however, additional genetic studies are necessary to further explore this.

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