Neonatal cervical chondromesenchymal hamartoma: a case report and literature review
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摘要: 软骨间叶性错构瘤起源于中胚层，含有间质和软骨的混合成分，多为良性，是具有自限性增生的一种非肿瘤性软骨病变。本文报道1例新生儿颈部软骨间叶性错构瘤，临床表现以窒息、急性呼吸窘迫为主，影像学表现常与恶性肿瘤相似，治疗主要是全身麻醉下手术根治性切除，术后病理确诊为软骨间叶性肉瘤，免疫组织化学显示: Catenin(-)，MDM2(+)，CDK4(-)，H3K36M(+)，Myogenin (-)，SMA (-).现对本病例的临床特征和诊治经过进行报告及相关文献复习。Abstract: Cartilage mesenchyme hamartoma originates from the mesoderm and contains a blend of interstitium and cartilage, which is mostly benign tumor and is a non-neoplastic cartilage lesion with self-limiting hyperplasia. This article reports a infant with cervical chondromesenchymal hamartoma in the neck, the main clinical manifestations of which are asphyxia and acute respiratory distress, and the imaging features are often similar to those of malignant tumors.Radical resection operation under general anesthesia is the main treatment method, and the postoperative pathological diagnosis was cartilage mesenchyme, and immunohistochemistry showed Catenin(-), MDM2(+), CDK4(-), H3K36M(+), Myogenin (-), SMA (-).The clinical characteristics and diagnosis and treatment process of this case are reported and related literature is reviewed.
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Key words:
- hamartoma /
- cartilaginous mesenchymal hamartoma /
- infants and young children /
- neck
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[1] Mason KA, Navaratnam A, Theodorakopoulou E, et al. Nasal Chondromesenchymal Hamartoma(NCMH): a systematic review of the literature with a new case report[J]. J Otolaryngol Head Neck Surg, 2015, 44(1): 28. doi: 10.1186/s40463-015-0077-3
[2] Javadirad E, Azimivaghar J, Montazer S, et al. A Systematic Review of Nasal Chondromesenchymal Hamartoma(NCMH)with a New Case Report[J]. Head Neck Pathol, 2022, 16(4): 1172-1184. doi: 10.1007/s12105-022-01452-7
[3] McDermott MB, Ponder TB, Dehner LP. Nasal chondromesenchymal hamartoma: an upper respiratory tract analogue of the chest wall mesenchymal hamartoma[J]. Am J Surg Pathol, 1998, 22(4): 425-433. doi: 10.1097/00000478-199804000-00006
[4] Wushou A, Liu W, Bai XF, et al. Clinical analysis of 194 cases of head and neck hamartoma[J]. Oral Surg Oral Med Oral Pathol Oral Radiol, 2013, 115(3): 299-303. doi: 10.1016/j.oooo.2012.03.034
[5] Saunders TFC, Bruijnzeel H, Ahmed S, et al. Nasal chondromesenchymal hamartoma: an update[J]. J Laryngol Otol, 2021, 23: 1-8.
[6] Mirchia K, Naous R. Nasal Chondromesenchymal Hamartoma: Rare Case Report in an Elderly Patient and Brief Review of Literature[J]. Case Rep Pathol, 2018, 2018: 5971786.
[7] Li Y, Yang QX, Tian XT, et al. Malignant transformation of nasal chondromesenchymal hamartoma in adult: a case report and review of the literature[J]. Histol Histopathol, 2013, 28(3): 337-344.
[8] Szepesi A, Juhasz Z, Kover A, et al. Chondromesenchymal Hamartoma in Ectopic Thyroid Tissue in a Neonate[J]. European J Pediatr Surg Rep, 2019, 7(1): e39-e42. doi: 10.1055/s-0039-1688803
[9] Schaerer D, Nation J, Rennert RC, et al. Pediatric Nasal Chondromesenchymal Tumors: Case Report and Review of the Literature[J]. Pediatr Neurosurg, 2021, 56(1): 61-66. doi: 10.1159/000512717
[10] Li Y, Zheng D, Zuo M, et al. Chondromesenchymal hamartomas in a 24-year-old male mimicking a posterior mediastinal tumor and a 5-month-old boy with postoperative disseminated intravascular coagulation: two case reports[J]. Diagn Pathol, 2020, 15(1): 53. doi: 10.1186/s13000-020-00940-0
[11] Schultz KAP, Williams GM, Kamihara J, et al. DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies[J]. Clin Cancer Res, 2018, 24(10): 2251-2261. doi: 10.1158/1078-0432.CCR-17-3089
[12] Schultz KAP, Stewart DR, Kamihara J, et al. DICER1 Tumor Predisposition. 2014 Apr 24[updated 2020 Apr 30]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews®[Internet]. Seattle(WA): University of Washington, Seattle; 1993-2022.
[13] Vasta LM, Nichols A, Harney LA, et al. Nasal chondromesenchymal hamartomas in a cohort with pathogenic germline variation in DICER1[J]. Rhinol Online, 2020, 3: 15-24. doi: 10.4193/RHINOL/20.007
[14] Thirunavukkarasu B, Chatterjee D, Mohindra S, et al. Nasal Chondromesenchymal Hamartoma[J]. Head Neck Pathol, 2020, 14(4): 1041-1045. doi: 10.1007/s12105-020-01179-3
[15] 许咪咪, 陈良嗣, 宫喜翔, 等. 颈部鳃源性皮肤软骨遗迹的诊治[J]. 临床耳鼻咽喉头颈外科杂志, 2023, 37(2): 122-126. https://lceh.whuhzzs.com/article/doi/10.13201/j.issn.2096-7993.2023.02.009
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