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Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report

Received: 16 March 2020     Accepted: 2 April 2020     Published: 29 April 2020
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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.

Published in American Journal of Pediatrics (Volume 6, Issue 2)
DOI 10.11648/j.ajp.20200602.30
Page(s) 173-177
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2020. Published by Science Publishing Group

Keywords

Infantile Myofibromatosis, Germline Mutation, PDGFRB Mutation

References
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[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.
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[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.
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  • APA Style

    Erica Ortiz, Aaina Kochhar, Indira Chandrasekar. (2020). Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report. American Journal of Pediatrics, 6(2), 173-177. https://doi.org/10.11648/j.ajp.20200602.30

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    ACS Style

    Erica Ortiz; Aaina Kochhar; Indira Chandrasekar. Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report. Am. J. Pediatr. 2020, 6(2), 173-177. doi: 10.11648/j.ajp.20200602.30

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    AMA Style

    Erica Ortiz, Aaina Kochhar, Indira Chandrasekar. Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report. Am J Pediatr. 2020;6(2):173-177. doi: 10.11648/j.ajp.20200602.30

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  • @article{10.11648/j.ajp.20200602.30,
      author = {Erica Ortiz and Aaina Kochhar and Indira Chandrasekar},
      title = {Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report},
      journal = {American Journal of Pediatrics},
      volume = {6},
      number = {2},
      pages = {173-177},
      doi = {10.11648/j.ajp.20200602.30},
      url = {https://doi.org/10.11648/j.ajp.20200602.30},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20200602.30},
      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.},
     year = {2020}
    }
    

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    T1  - Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report
    AU  - Erica Ortiz
    AU  - Aaina Kochhar
    AU  - Indira Chandrasekar
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    T2  - American Journal of Pediatrics
    JF  - American Journal of Pediatrics
    JO  - American Journal of Pediatrics
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    PB  - Science Publishing Group
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    UR  - https://doi.org/10.11648/j.ajp.20200602.30
    AB  - 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.
    VL  - 6
    IS  - 2
    ER  - 

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Author Information
  • Department of Pediatrics, Pediatrics Resident, Valley Children’s Helathcare, Madera, California, USA

  • Department of Genetics and Metabolism, Valley Children’s Helathcare, Madera, California, USA

  • Department of Neonatology, Valley Children’s Helathcare, Madera, California, USA

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