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 |
Infantile Myofibromatosis, Germline Mutation, PDGFRB Mutation
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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
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
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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Download@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}
}
TY - JOUR T1 - Invasive Myofibromatosis with Visceral Involvement in a Term Newborn: A Case Report AU - Erica Ortiz AU - Aaina Kochhar AU - Indira Chandrasekar Y1 - 2020/04/29 PY - 2020 N1 - https://doi.org/10.11648/j.ajp.20200602.30 DO - 10.11648/j.ajp.20200602.30 T2 - American Journal of Pediatrics JF - American Journal of Pediatrics JO - American Journal of Pediatrics SP - 173 EP - 177 PB - Science Publishing Group SN - 2472-0909 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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