Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report
American Journal of Pediatrics
Volume 6, Issue 2, June 2020, Pages: 173-177
Received: Mar. 16, 2020; Accepted: Apr. 2, 2020; Published: Apr. 29, 2020
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Authors
Erica Ortiz, Department of Pediatrics, Pediatrics Resident, Valley Children’s Helathcare, Madera, California, USA
Aaina Kochhar, Department of Genetics and Metabolism, Valley Children’s Helathcare, Madera, California, USA
Indira Chandrasekar, Department of Neonatology, Valley Children’s Helathcare, Madera, California, USA
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Abstract
Background: Infantile myofibromatosis is a rare disease characterized by solitary or multiple benign tumors. Aggressive myofibromatosis with extensive visceral involvement at birth is a very rare condition with poor prognosis. Case report: We report a term male infant born with multi-system myofibromatosis involving the skin, bone, brain, heart, lung, and GI tract. The patient received chemotherapy but had a protracted clinical course complicated by intestinal obstruction and perforation, and failure to thrive. Pathology of the tumor showed presence of spindle cells. Immunohistochemical analysis of this tissue was positive for vimentin, smooth muscle actin, and CD34 but negative for Muscle-Specific Actin (MSA) and desmin. Also, electron microscopic analysis detected the presence of subcellular myofibroblastic structures. Next generation sequencing analysis of the patient’s blood and tumor tissues identified a germline mutation in PDGFRB gene p. R561C allele (c.1681C>T), as well as a second activating PDGFRB mutation (p. N666S) which was present in the tumor tissue only. Parental testing showed that the germline mutation was inherited from the father, who was asymptomatic. The second mutation is likely responsible for the aggressive nature of the condition in this patient. He eventually died due to cardiorespiratory failure. Conclusion: Early diagnosis by pathology and genetic analysis in patients’ with extensive myofibromatosis will help to determine targeted chemotherapy and prognosis.
Keywords
Infantile Myofibromatosis, Germline Mutation, PDGFRB Mutation
To cite this article
Erica Ortiz, Aaina Kochhar, Indira Chandrasekar, Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report, American Journal of Pediatrics. Vol. 6, No. 2, 2020, pp. 173-177. doi: 10.11648/j.ajp.20200602.30
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Copyright © 2020 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
References
[1]
Weiss SW, Goldblum JR. Myofibroma and myofibromatosis. In: Weiss SW, Goldblum JR, eds. Enzinger and Weiss’s Soft Tissue Tumors, fourth edition. St Louis: Mosby; 2001: 357–363.
[2]
Rubin BP, Bridge JA. Myofibroma/myofibromatosis. In: Fletcher CDM, Unni KK, Mertens F, eds. World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, third edition. Lyon: IARC press; 2002: 59–61.
[3]
Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer 1981; 48: 1807–1818.
[4]
Wiswell TE, Davis J, Cunningham BE, Solenberger R, Thomas PJ. Infantile myofibromatosis: the most common fibrous tumor of infancy. J Pediatr Surg 1988; 23: 315–318.
[5]
Mashiah J, Hadj-Rabia S, Domomartin A, et al. Infantile myofibromatosis: a series of 28 cases. J Am Acad Dermatol 2014; 71: 264–270.
[6]
Mynatt CJ, Feldman KA, Thompson LD. Orbital infantile myofibroma: a case report and clinicopathologic review of 24 cases from the literature. Head Neck Pathol 2011; 5: 205–215.
[7]
Arts FA, Sciot R, Brichard B, et al. PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis. Hum Mol Genet 2017; 26: 1801–1810.
[8]
Zand DJ, Huff D, Everman D, et al. Autosomal dominant inheritance of infantile myofibromatosis. Am J Med Genet A 2004; 126A: 261–266.
[9]
Kulkarni K, Desai S, Grundy P, Sergi C. Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance. J Pediatr Surg 2012; 47: 2312–2315.
[10]
Sirvent N, Perrin C, Lacour JP, Maire G, Attias R, Pedeutour F. Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis. Virchows Arch 2004; 445: 537–540.
[11]
Stenman G, Nadal N, Persson S, Guntenberg B, Angervall L. del (6)(q12q15) as the sole cytogenetic anomaly in a case of solitary infantile myofibromatosis. Oncol Rep 1999; 6: 1101–1104.
[12]
Ikediobi NI, Iyengar V, Hwang L, Collins WE, Metry DW. Infantile myofibromatosis: support for autosomal dominant inheritance. J Am Acad Derm 2003; 49: S148–S150.
[13]
Hazarey J, Hazare S, Moghe G. Unusually aggressive myofibromatosis in a neonate. J Neonat Surg 2012; 1: 35.
[14]
Kikuchi K, Abe R, Shinkuma S, et al. Spontaneous remission of solitary-type infantile myofibromatosis. Case Rep Dermatol 2011; 3: 181–185.
[15]
Wallace, W. H., et al. (2001). "Developing strategies for long term follow up of survivors of childhood cancer." BMJ 323 (7307): 271-274.
[16]
Auriti C, Kieran MW, Deb G, Devito R, Pasquini L, Danhaive O. Remission of infantile generalized myofibromatosis after interferon alpha therapy. J Pediatr Hematol Oncol 2008; 30: 179–181.
[17]
Gandhi MM, Nathan PC, Weitzman S, Levitt GA. Successful treatment of life-threatening generalized infantile myofibromatosis using low-dose chemotherapy. J Pediatr Hematol Oncol 2003; 25: 750–754.
[18]
Levine E, Fréneaux P, Schleiermacher, et al. Risk- adapted therapy for infantile myofibromatosis in children. Pediatr Blood Cancer 2012; 59: 115–120.
[19]
Cheung YH, Gayden T, Campeau PM, LeDuc CA Russo D, Nguyen VH, et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet 2013; 92: 996–1000.
[20]
Martignetti JA, Tian L, Li D, et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet 2013; 92: 1001–1007.
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