Juvenile xanthogranuloma, neurofibromatosis 1, and juvenile chronic myeloid leukemia

Gutmann, David H.

doi:10.1001/archderm.132.11.1390

Cited by 32 publications

(5 citation statements)

References 5 publications

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“…In children with JXG and NF1, the risk of developing JMML may be as high as 1 in 62 to 250, equivalent to approximately 0.4% to 1.6% . These numbers must be interpreted carefully since they are based on small numbers from different studies, leading to statistical uncertainties, although these results correlate well with those from an earlier study by Gutmann et al , who found an incidence of 3.6 per 1,000 children with NF1 and JXG. Furthermore, this association may be underestimated because patients with JMML may die at an age at which children do not manifest sufficient clinical signs to make a diagnosis of NF1 .…”

Section: Discussionsupporting

confidence: 62%

Neurofibromatosis Type 1 Diagnosed in a Child Based on Multiple Juvenile Xanthogranulomas and Juvenile Myelomonocytic Leukemia

Jans

Schomerus

Bygum

2014

Pediatric Dermatology

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An association between juvenile xanthogranuloma (JXG), neurofibromatosis type 1 (NF1), and juvenile myelomonocytic leukemia (JMML) has been described in the literature but has only been documented in approximately 20 cases. We diagnosed a patient with NF1 at 25 months of age, before any cutaneous stigmata of this disease had appeared, because we decided to screen for the NF1 gene mutation because of his presentation with multiple JXGs and moderate macrocephaly (2.5 standard deviations) at 9 months of age and JMML diagnosed at 20 months of age. The child is well today after treatment with chemotherapy and allogenic bone marrow transplantation. With increased awareness, patients with JXG and NF1 who develop symptoms possibly related to JMML, such as paleness, skin bleeding, cough, unexplained fever, and hepatosplenomegaly, should be further evaluated. We also emphasize that multiple JXG lesions can be an early marker of NF1.

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Section: Discussionsupporting

confidence: 62%

Neurofibromatosis Type 1 Diagnosed in a Child Based on Multiple Juvenile Xanthogranulomas and Juvenile Myelomonocytic Leukemia

Jans

Schomerus

Bygum

2014

Pediatric Dermatology

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“…Unfortunately, most, if not all, MPNST (either from NF1 or non-NF1 patients) are rarely diagnosed at the level of the precursor pNF lesion due to their deep anatomical location, precluding anyone from conclusively answering this critical question. In other words, our model predicts that the incidence of MPNST, and breast cancer 46 – 50 as well as juvenile myelomonocytic leukemia (JMML) 51 – 53 that are associated with NF1, would be much higher in NF1 patients if it were not due to the repressive role of the NF1 +/− microenvironment.…”

Section: Discussionmentioning

confidence: 97%

NF1 heterozygosity fosters de novo tumorigenesis but impairs malignant transformation

Brosseau

Liao²,

Wang

et al. 2018

Nat Commun

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Neurofibromatosis type 1 (NF1) is an autosomal genetic disorder. Patients with NF1 are associated with mono-allelic loss of the tumor suppressor gene NF1 in their germline, which predisposes them to develop a wide array of benign lesions. Intriguingly, recent sequencing efforts revealed that the NF1 gene is frequently mutated in multiple malignant tumors not typically associated with NF1 patients, suggesting that NF1 heterozygosity is refractory to at least some cancer types. In two orthogonal mouse models representing NF1- and non-NF1-related tumors, we discover that an Nf1+/− microenvironment accelerates the formation of benign tumors but impairs further progression to malignancy. Analysis of benign and malignant tumors commonly associated with NF1 patients, as well as those with high NF1 gene mutation frequency, reveals an antagonistic role for NF1 heterozygosity in tumor initiation and malignant transformation and helps to reconciliate the role of the NF1 gene in both NF1 and non-NF1 patient contexts.

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“…They estimated that children with NF and JXG had a 20‐ to 32‐fold higher risk for JCML than do patients with NF without JXG. The following year, in a letter to the editor, Gutmann et al (22) contended that methods used in the former analysis were incorrect, and that these methods had led to an overestimation of the frequency of the triple association and of the risk of JCML. They concluded that the incidence of JCML in patients with NF1 and JXG would still be very rare, even if overestimated, and believed it premature to routinely monitor children for the development of signs and symptoms of JCML.…”

Section: Discussionmentioning

confidence: 99%

Juvenile Xanthogranuloma Associated with Neurofibromatosis 1: 14 Patients without Evidence of Hematologic Malignancies

Cambiaghi

Restano

Caputo

2004

Pediatric Dermatology

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The clinical features and natural history of juvenile xanthogranuloma (JXG) in 14 children affected by neurofibromatosis 1 (NF1) are reported. Mean follow-up in 11 of these patients was 4.3 years (range 1-10 years). None of the children developed hematologic malignancies during this period. The onset of JXG was in the first 2 years of life in 13 of the patients. In this series, the association between JXG and six or more café au lait spots more than 5 mm in diameter was a good marker for NF1 in the first few years of life. Overall the JXG in these patients did not show any features distinguishable from those of "classical" JXG.

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Juvenile xanthogranuloma, neurofibromatosis 1, and juvenile chronic myeloid leukemia

Cited by 32 publications

References 5 publications

Neurofibromatosis Type 1 Diagnosed in a Child Based on Multiple Juvenile Xanthogranulomas and Juvenile Myelomonocytic Leukemia

Neurofibromatosis Type 1 Diagnosed in a Child Based on Multiple Juvenile Xanthogranulomas and Juvenile Myelomonocytic Leukemia

NF1 heterozygosity fosters de novo tumorigenesis but impairs malignant transformation

Juvenile Xanthogranuloma Associated with Neurofibromatosis 1: 14 Patients without Evidence of Hematologic Malignancies

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