一名患有此前未被怀疑的1型神经纤维瘤病和青少年粒单核细胞白血病的儿童患幼年性黄色肉芽肿。
Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia.
作者信息
Raygada Margarita, Arthur Diane C, Wayne Alan S, Rennert Owen M, Toretsky Jeffrey A, Stratakis Constantine A
机构信息
Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Developmental Genetics, Bethesda, MD 20892-1831, USA.
出版信息
Pediatr Blood Cancer. 2010 Jan;54(1):173-5. doi: 10.1002/pbc.22297.
Abstract
The association of neurofibromatosis 1 (NF1), juvenile xanthogranulomas (JXG), and juvenile myelomonocytic leukemia (JMML) has been previously reported. We describe herein this triad in a Caucasian male infant with a pathogenic mutation in the NF1 gene (neurofibromin). The clinical course from initial presentation to final diagnosis is detailed; the physical features and hematologic characteristics are discussed. The patient underwent bone marrow transplantation and is currently in remission. Children with concurrent cutaneous café-au-lait and JXG lesions should be evaluated and monitored closely for the possible development of JMML.
摘要
先前已有关于1型神经纤维瘤病（NF1）、幼年性黄色肉芽肿（JXG）和幼年型粒单核细胞白血病（JMML）关联的报道。我们在此描述一名患有NF1基因（神经纤维瘤蛋白）致病突变的白种男婴的这三联征。详细介绍了从首次出现症状到最终确诊的临床过程；讨论了体格特征和血液学特征。该患者接受了骨髓移植，目前处于缓解期。对于同时有皮肤牛奶咖啡斑和JXG皮损的儿童，应密切评估和监测，以观察JMML的可能发生情况。
相似文献
1
Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia.一名患有此前未被怀疑的1型神经纤维瘤病和青少年粒单核细胞白血病的儿童患幼年性黄色肉芽肿。
Pediatr Blood Cancer. 2010 Jan;54(1):173-5. doi: 10.1002/pbc.22297.
2
Neurofibromatosis type 1 diagnosed in a child based on multiple juvenile xanthogranulomas and juvenile myelomonocytic leukemia.基于多发性幼年黄色肉芽肿和幼年型粒单核细胞白血病在一名儿童中诊断出1型神经纤维瘤病。
Pediatr Dermatol. 2015 Jan-Feb;32(1):e29-32. doi: 10.1111/pde.12478. Epub 2014 Dec 16.
3
Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature.青少年骨髓单核细胞白血病、青少年黄色肉芽肿与1型神经纤维瘤病之间的关联：病例报告及文献综述
Pediatr Dermatol. 2017 Mar;34(2):114-118. doi: 10.1111/pde.13064. Epub 2017 Jan 23.
4
Juvenile myelomonocytic leukemia in a patient with neurofibromatosis type 1 and xanthogranulomas.1型神经纤维瘤病合并黄色肉芽肿患者的青少年型粒单核细胞白血病
G Ital Dermatol Venereol. 2019 Dec;154(6):717-718. doi: 10.23736/S0392-0488.18.05983-7. Epub 2018 Mar 29.
5
Cutaneous xanthogranulomas, hepatosplenomegaly, anemia, and thrombocytopenia as presenting signs of juvenile myelomonocytic leukemia.皮肤黄色瘤、肝脾肿大、贫血和血小板减少症是幼年骨髓单核细胞白血病的首发表现。
Am J Clin Dermatol. 2010;11(1):67-71. doi: 10.2165/11311130-000000000-00000.
6
Juvenile myelomonocytic leukemia presenting with features of hemophagocytic lymphohistiocytosis in association with neurofibromatosis and juvenile xanthogranulomas.青少年骨髓单核细胞白血病伴噬血细胞性淋巴组织细胞增生症特征，与神经纤维瘤病和青少年黄色肉芽肿相关。
J Pediatr Hematol Oncol. 2004 Sep;26(9):591-5. doi: 10.1097/01.mph.0000135282.39550.99.
7
Molluscum Mimicker: Juvenile Xanthogranulomas with Associated Juvenile Myelomonocytic Leukemia.传染性软疣模仿者：伴有青少年骨髓单核细胞白血病的青少年黄色肉芽肿
J Pediatr. 2016 Oct;177:326-326.e1. doi: 10.1016/j.jpeds.2016.06.089. Epub 2016 Aug 8.
8
Juvenile myelomonocytic leukemia presenting with features of neonatal hemophagocytic lymphohistiocytosis and cutaneous juvenile xanthogranulomata and successfully treated with allogeneic hemopoietic stem cell transplant.以新生儿噬血细胞性淋巴组织细胞增生症和皮肤幼年黄色肉芽肿为特征的青少年粒单核细胞白血病，并成功接受异基因造血干细胞移植治疗。
J Pediatr Hematol Oncol. 2010 Mar;32(2):152-5. doi: 10.1097/MPH.0b013e3181cf4575.
9
Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies.与1型神经纤维瘤病相关的幼年黄色肉芽肿：14例无血液系统恶性肿瘤证据的患者。
Pediatr Dermatol. 2004 Mar-Apr;21(2):97-101. doi: 10.1111/j.0736-8046.2004.21201.x.
10
[Juvenile myelomonocytic leukaemia, xanthoma, and neurofibromatosis type 1].[青少年粒单核细胞白血病、黄瘤和1型神经纤维瘤病]
Arch Pediatr. 2003 Oct;10(10):891-4. doi: 10.1016/s0929-693x(03)00456-1.
引用本文的文献
1
Clinicopathological study of ophthalmic cutaneous and mucocutaneous non-langerhans cell histiocytic lesions.眼皮肤和黏膜非朗格汉斯细胞组织细胞病变的临床病理研究。
BMC Ophthalmol. 2024 Mar 19;24(1):124. doi: 10.1186/s12886-024-03388-8.
2
Multiple Red-brown Papules and Plaques on the Trunk and Extremities: A Quiz.躯干和四肢上的多个红棕色丘疹和斑块：一则病例问答
Acta Derm Venereol. 2023 Sep 18;103:adv12419. doi: 10.2340/actadv.v103.12419.
3
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent Gene Variants and Correlations with Neurocognitive Phenotype.神经纤维瘤病 1 型的基因型-表型相关性：新的和反复出现的基因突变的鉴定及其与神经认知表型的相关性。
Genes (Basel). 2022 Jun 23;13(7):1130. doi: 10.3390/genes13071130.
4
Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.神经纤维瘤病 1 型小鼠模型中神经纤维瘤蛋白单倍不足导致精子发生改变。
PLoS One. 2018 Dec 20;13(12):e0208835. doi: 10.1371/journal.pone.0208835. eCollection 2018.
5
Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity.幼年黄色肉芽肿的遗传学评估：孤立性病变中基因组异常不常见，晚期病例可能显示更复杂的情况。
Mod Pathol. 2017 Sep;30(9):1234-1240. doi: 10.1038/modpathol.2017.50. Epub 2017 Jul 28.
6
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.韩国1型神经纤维瘤病患者中NF1剪接突变的鉴定与特征分析
J Hum Genet. 2016 Aug;61(8):705-9. doi: 10.1038/jhg.2016.33. Epub 2016 Apr 14.
7
Uncommon Presentation of a Common Histiocytic Tumor: A Rare Entity.一种常见组织细胞肿瘤的罕见表现：一种罕见实体。
Indian J Dermatol. 2015 May-Jun;60(3):301-4. doi: 10.4103/0019-5154.156395.
8
Fatal juvenile xanthogranuloma presenting as a sellar lesion: case report and literature review.表现为鞍区病变的致命性幼年黄色肉芽肿：病例报告及文献复习
Childs Nerv Syst. 2015 May;31(5):777-84. doi: 10.1007/s00381-014-2604-3. Epub 2014 Dec 12.
9
Systemic mastocytosis associated with chronic myelomonocytic leukemia and xanthogranuloma.系统性肥大细胞增多症伴慢性髓单核细胞白血病和黄色肉芽肿。
Dermatol Pract Concept. 2012 Jul 31;2(3):203a03. doi: 10.5826/dpc.0203a03. Print 2012 Jul.
10
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?神经纤维瘤病 1 型（NF1）的基因型-表型关联：NF1 剪接位点突变患者的肿瘤并发症风险增加？
Hum Genomics. 2012 Aug 13;6(1):12. doi: 10.1186/1479-7364-6-12.
本文引用的文献
1
Neurofibromatosis.神经纤维瘤病
Eur J Med Res. 2009 Mar 17;14(3):102-5. doi: 10.1186/2047-783x-14-3-102.
2
Juvenile myelomonocytic leukemia: report of seven cases and review of literature.
Pediatr Dev Pathol. 2009 Mar-Apr;12(2):136-42. doi: 10.2350/08-04-0456.1. Epub 2008 Aug 22.
3
Treatment of juvenile xanthogranuloma.幼年性黄色肉芽肿的治疗。
Pediatr Blood Cancer. 2008 Jul;51(1):130-3. doi: 10.1002/pbc.21523.
4
JXG, NF1, and JMML: alphabet soup or a clinical issue?幼年黄色肉芽肿、神经纤维瘤病1型和青少年型髓单核细胞白血病：是字母组合游戏还是临床问题？
Pediatr Dermatol. 2004 Mar-Apr;21(2):174-6. doi: 10.1111/j.0736-8046.2004.21219.x.
5
Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies.与1型神经纤维瘤病相关的幼年黄色肉芽肿：14例无血液系统恶性肿瘤证据的患者。
Pediatr Dermatol. 2004 Mar-Apr;21(2):97-101. doi: 10.1111/j.0736-8046.2004.21201.x.
6
[Xantholeukemia in infants & Recklinghausen's neurofibromatosis].
Sem Hop. 1958 May 24;34(24/5):1504-13/P.
7
8
Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCCSG study.神经纤维瘤病与儿童白血病/淋巴瘤：一项基于英国儿童癌症研究组的人群研究。
Br J Cancer. 1994 Nov;70(5):969-72. doi: 10.1038/bjc.1994.431.
9
Zotero 插件