Infantile fibrosarcoma
Updates to Article Attributes
Infantile fibrosarcomas also known as congenital fibrosarcoma, infantile fibrosarcoma-like tumour, and cellular congenital mesoblastic nephroma are locally aggressive rarely metastasizingmetastasising fibroblastic tumours found in the pediatricpaediatric population.
Terminology
Other acceptable terms include congenital fibrosarcoma, infantile fibrosarcoma-like tumour, cellular congenital mesoblastic nephroma1.
Epidemiology
Infantile fibrosarcomas are most commonly found in the first two years of life with more than 75% of the cases found during the first year and at birth and a further 15% in the second year of life 1. A bit less than 15% are already detected at prenatal ultrasound 1,2-3.
Associations
There is a relation to congenital mesoblastic nephroma 1.
Diagnosis
The diagnosis of infantile fibrosarcomas is based on patient age, histology and molecular pathology 1.
Diagnostic criteria
Diagnostic criteria of infantile fibrosarcoma according to the WHO classification of tumours: soft tissue and bone (5th edition)1:
- age <2 years in the majority of patients
- usually herringbone or fascicular growth pattern with intersecting bundles of spindled to ovoid or round cells
- mixed inflammatory changes and haemangiopericytoma-like staghorn vasculature
The following genetic criterion is desirable:
- ETV6-NTRK3 fusion or rearrangements of the NTRK1, BRAF and MET genes
Clinical presentation
The typical manifestation is a rapidly growing painless mass or nodule, they may look like a vascular tumour and ulcerate 1.
Pathology
Infantile fibrosarcomas are locally aggressive tumours characterizedcharacterised by spindle cells or primitive ovoid cells often growing in a fascicular or herringbone architecture with a staghorn vascular pattern, mixed inflammatory changes and 1,2.
Location
Infantile fibrosarcomas are usually found in the superficial and deep soft tissues of the following locations 1-4-5:
- extremities
- trunk
- head and neck region
Less commonly it is found in the abdomen or retroperitoneum and rarely it involves the bones and viscera such as the lung and the bowel 1.
Macroscopic appearance
Macroscopically infantile fibrosarcomas usually appear as poorly circumscribed lobulated tumours with infiltrative boundaries, some feature a pseudocapsule. They can be quite large when discovered. 1.
Microscopic appearance
The microscopic spectrum of infantile fibrosarcoma is broad and includes the following 1,2:
- monomorphic spindle cells to ovoid/round cells
- fascicular growth in a ‘herringbone’ architecture
- collagenous or myxoid background
- haemangiopericytoma-like vascular pattern
- mixed chronic inflammatory infiltrates
- variable mitotic activity
- frequently zonal necrosis and/or haemorrhages
Immunophenotype
Immunohistochemistry stains are non-specific and can display expressions of SMA, CD34, S100 or desmin 1.
Genetics
Infantile fibrosarcoma often displays an ETV6-NTRK3 gene fusion or rearrangement 1-312, 4.
Radiographic features
Imaging findings usually reveal a nonspecific heterogeneous mass with signs of intralesional haemorrhage 1.
Ultrasound
Ultrasound usually reveals a heterogeneous isoechoic, hypervascular mass with dilated vessels sometimes looking a bit like haemangioma 2,3,4.
MRI
On MRI infantile fibrosarcomas are heterogeneous soft tissue masses and can show well-defined or infiltrative tumour margins. They might show low signal intensity fibrous streaks 2. They might show with intralesional signal voids due to vasculature and haemorrhagic components, being hyperintense in both T1 weighted-weighted and T2 weighted-weighted images 2,3,4-7.
Signal characteristics are usually as follows:
- T1: generally hypo- to isointense to muscle
- T2: generallyhyperintense signal intensity
- T1 C+ (Gd): heterogeneous predominantly peripheral enhancement
Radiology report
The radiological report should include a description of the following:
- form, location and size
- tumour margins
- relation to the muscular fascia
- relationship to local nerves and vessels
- relations to other organs
Treatment and prognosis
Treatment options include combinations of surgery with wide local excision being the surgical treatment of choice and chemotherapy3,8. Local recurrence occurs in up to 40% and is especially associated with incomplete resection. Metastases occur rarely and most often affect the lungs. The 10-year survival is about 90% with standard therapy 1-3.
History and etymology
History and early descriptions of congenital infantile fibrosarcoma are very vague.
According to the Mexican physician and paediatric pathologist, Francisco González Crussí several mesenchymal tumours were reported in the literature up to 1940 and called fibrosarcoma 9,10 with the caveat that the nomenclature was too confusing and the illustrations too inaccurate to be sure of the diagnosis 9.
Differential diagnosis
Conditions that can mimic the presentation and/or the appearance of infantile fibrosarcoma include 1-3-4:
- adult fibrosarcoma
- infantile fibromatosis
- myofibromatosis
-<p><strong>Infantile fibrosarcomas</strong> are locally aggressive rarely metastasizing fibroblastic tumours found in the pediatric population.</p><h4>Terminology</h4><p>Other acceptable terms include <strong>congenital fibrosarcoma</strong>, <strong>infantile fibrosarcoma-like tumour</strong>, <strong>cellular congenital mesoblastic nephroma</strong> <sup>1</sup>.</p><h4>Epidemiology</h4><p>Infantile fibrosarcomas are most commonly found in the first two years of life with more than 75% of the cases found during the first year and at birth and a further 15% in the second year of life <sup>1</sup>. A bit less than 15% are already detected at prenatal ultrasound <sup>1,2</sup>.</p><h5>Associations</h5><p>There is a relation to <a href="/articles/mesoblastic-nephroma">congenital mesoblastic nephroma</a> <sup>1</sup>.</p><h4>Clinical presentation</h4><p>The typical manifestation is a rapidly growing painless mass or nodule, they may look like a vascular tumour and ulcerate <sup>1</sup>.</p><h4>Pathology</h4><p>Infantile fibrosarcomas are locally aggressive tumours characterized by spindle cells or primitive ovoid cells often growing in a fascicular or herringbone architecture with a <a href="/articles/staghorn-pattern-of-vascularity">staghorn vascular pattern</a>, mixed inflammatory changes and <sup>1,2</sup>.</p><h5>Location</h5><p>Infantile fibrosarcomas are usually found in the superficial and deep soft tissues of the following locations <sup>1-4</sup>:</p><ul>- +<p><strong>Infantile fibrosarcomas</strong> also known as <strong>congenital fibrosarcoma</strong>, <strong>infantile fibrosarcoma-like tumour</strong>, and <strong>cellular congenital mesoblastic nephroma</strong> are locally aggressive rarely metastasising fibroblastic tumours found in the paediatric population.</p><h4>Epidemiology</h4><p>Infantile fibrosarcomas are most commonly found in the first two years of life with more than 75% of the cases found during the first year and at birth and a further 15% in the second year of life <sup>1</sup>. A bit less than 15% are already detected at prenatal ultrasound <sup>1-3</sup>.</p><h5>Associations</h5><p>There is a relation to <a href="/articles/mesoblastic-nephroma">congenital mesoblastic nephroma</a> <sup>1</sup>.</p><h4>Diagnosis</h4><p>The diagnosis of infantile fibrosarcomas is based on patient age, histology and molecular pathology <strong><sup>1</sup>.</strong></p><h5>Diagnostic criteria</h5><p>Diagnostic criteria of infantile fibrosarcoma according to the <a href="/articles/who-classification-of-tumors-of-soft-tissue">WHO classification of tumours: soft tissue and bone (5<sup>th</sup> edition)</a> <sup>1</sup>:</p><ul>
- +<li>age <2 years in the majority of patients</li>
- +<li>usually herringbone or fascicular growth pattern with intersecting bundles of spindled to ovoid or round cells</li>
- +<li>mixed inflammatory changes and haemangiopericytoma-like staghorn vasculature</li>
- +</ul><p>The following genetic criterion is desirable:</p><ul><li>
- +<em>ETV6-NTRK3</em> fusion or rearrangements of the <em>NTRK1</em>, <em>BRAF</em> and <em>MET</em> genes</li></ul><h4>Clinical presentation</h4><p>The typical manifestation is a rapidly growing painless mass or nodule, they may look like a vascular tumour and ulcerate <sup>1</sup>.</p><h4>Pathology</h4><p>Infantile fibrosarcomas are locally aggressive tumours characterised by spindle cells or primitive ovoid cells often growing in a fascicular or herringbone architecture with a <a href="/articles/staghorn-pattern-of-vascularity">staghorn vascular pattern</a>, mixed inflammatory changes and <sup>1,2</sup>.</p><h5>Location</h5><p>Infantile fibrosarcomas are usually found in the superficial and deep soft tissues of the following locations <sup>1-5</sup>:</p><ul>
-</ul><h5>Immunophenotype</h5><p>Immunohistochemistry stains are non-specific and can display expressions of <a href="/articles/superior-mesenteric-artery">SMA</a>, <a href="/articles/cd34">CD34</a>, <a href="/articles/s100">S100</a> or <a href="/articles/desmin">desmin</a> <sup>1</sup>.</p><h5>Genetics</h5><p>Infantile fibrosarcoma often displays an ETV6-NTRK3 gene fusion or rearrangement <sup>1-3</sup>.</p><h4>Radiographic features</h4><p>Imaging findings usually reveal a nonspecific heterogeneous mass with signs of intralesional haemorrhage <sup>1</sup>.</p><h5>Ultrasound</h5><p>Ultrasound usually reveals a heterogeneous isoechoic, hypervascular mass with dilated vessels sometimes looking a bit like <a href="/articles/haemangioma">haemangioma</a> <sup>2,3</sup>.</p><h5>MRI</h5><p>On MRI infantile fibrosarcomas are heterogeneous soft tissue masses and can show well-defined or infiltrative tumour margins. They might show low signal intensity fibrous streaks <sup>2</sup>. They might show with intralesional signal voids due to vasculature and haemorrhagic components, being hyperintense in both T1 weighted and T2 weighted images <sup>2,3</sup>.</p><p>Signal characteristics are usually as follows:</p><ul>- +</ul><h5>Immunophenotype</h5><p>Immunohistochemistry stains are non-specific and can display expressions of <a href="/articles/superior-mesenteric-artery">SMA</a>, <a href="/articles/cd34">CD34</a>, <a href="/articles/s100">S100</a> or <a href="/articles/desmin">desmin</a> <sup>1</sup>.</p><h5>Genetics</h5><p>Infantile fibrosarcoma often displays an ETV6-NTRK3 gene fusion or rearrangement <sup>12, 4</sup>.</p><h4>Radiographic features</h4><p>Imaging findings usually reveal a nonspecific heterogeneous mass with signs of intralesional haemorrhage <sup>1</sup>.</p><h5>Ultrasound</h5><p>Ultrasound usually reveals a heterogeneous isoechoic, hypervascular mass with dilated vessels sometimes looking a bit like <a href="/articles/haemangioma">haemangioma</a> <sup>2,4</sup>.</p><h5>MRI</h5><p>On MRI infantile fibrosarcomas are heterogeneous soft tissue masses and can show well-defined or infiltrative tumour margins. They might show low signal intensity fibrous streaks <sup>2</sup>. They might show intralesional signal voids due to vasculature and haemorrhagic components, being hyperintense in both T1-weighted and T2-weighted images <sup>2,4-7</sup>.</p><p>Signal characteristics are usually as follows:</p><ul>
-</ul><h4>Treatment and prognosis</h4><p>Treatment options include combinations of surgery and chemotherapy. Local recurrence occurs in up to 40% and is especially associated with incomplete resection. Metastases occur rarely and most often affect the lungs. The 10-year survival is about 90% with standard therapy <sup>1-3</sup>. </p><h4>Differential diagnosis</h4><p>Conditions that can mimic the presentation and/or the appearance of infantile fibrosarcoma include <sup>1-3</sup>:</p><ul>- +</ul><h4>Treatment and prognosis</h4><p>Treatment options include combinations of surgery with wide local excision being the surgical treatment of choice and chemotherapy <sup>3,8</sup>. Local recurrence occurs in up to 40% and is especially associated with incomplete resection. Metastases occur rarely and most often affect the lungs. The 10-year survival is about 90% with standard therapy <sup>1-3</sup>.</p><h4>History and etymology</h4><p>History and early descriptions of congenital infantile fibrosarcoma are very vague.</p><p>According to the Mexican physician and paediatric pathologist, Francisco González Crussí several mesenchymal tumours were reported in the literature up to 1940 and called fibrosarcoma <sup>9,</sup><sup>10 </sup>with the caveat that the nomenclature was too confusing and the illustrations too inaccurate to be sure of the diagnosis <sup>9</sup>.</p><h4>Differential diagnosis</h4><p>Conditions that can mimic the presentation and/or the appearance of infantile fibrosarcoma include <sup>1-4</sup>:</p><ul>
References changed:
- 1. Davies JL, Antonescu CR, Bahrami A. Infantile fibrosarcoma. In: WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours. Lyon (France): International Agency for Research on Cancer; 2020. (WHO classification of tumours series, 5th ed.; vol. 3). <a href="https://publications.iarc.fr/Book-And-Report-Series/Who-Classification-Of-Tumours/Soft-Tissue-And-Bone-Tumours-2020">https://publications.iarc.fr</a>
- 2. Sargar K, Sheybani E, Shenoy A, Aranake-Chrisinger J, Khanna G. Pediatric Fibroblastic and Myofibroblastic Tumors: A Pictorial Review. Radiographics. 2016;36(4):1195-214. <a href="https://doi.org/10.1148/rg.2016150191">doi:10.1148/rg.2016150191</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27399243">Pubmed</a>
- 4. Farmakis S, Herman T, Siegel M. Congenital Infantile Fibrosarcoma. J Perinatol. 2014;34(4):329-30. <a href="https://doi.org/10.1038/jp.2013.164">doi:10.1038/jp.2013.164</a>
- 5. Park K, van Rijn R, McHugh K. The Role of Radiology in Paediatric Soft Tissue Sarcomas. Cancer Imaging. 2008;8(1):102-15. <a href="https://doi.org/10.1102/1470-7330.2008.0014">doi:10.1102/1470-7330.2008.0014</a>
- 3. Chung E & Enzinger F. Infantile Fibrosarcoma. Cancer. 1976;38(2):729-39. <a href="https://doi.org/10.1002/1097-0142(197608)38:2<729::aid-cncr2820380216>3.0.co;2-z">doi:10.1002/1097-0142(197608)38:2<729::aid-cncr2820380216>3.0.co;2-z</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/974993">Pubmed</a>
- 6. Ainsworth K, Chavhan G, Gupta A, Hopyan S, Taylor G. Congenital Infantile Fibrosarcoma: Review of Imaging Features. Pediatr Radiol. 2014;44(9):1124-9. <a href="https://doi.org/10.1007/s00247-014-2957-5">doi:10.1007/s00247-014-2957-5</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/24706181">Pubmed</a>
- 7. Lee M, Cairns R, Munk P, Poon P. Congenital-Infantile Fibrosarcoma: Magnetic Resonance Imaging Findings. Can Assoc Radiol J. 1996;47(2):121-5. - <a href="https://www.ncbi.nlm.nih.gov/pubmed/8612084">Pubmed</a>
- 8. Parida L, Fernandez-Pineda I, Uffman J et al. Clinical Management of Infantile Fibrosarcoma: A Retrospective Single-Institution Review. Pediatr Surg Int. 2013;29(7):703-8. <a href="https://doi.org/10.1007/s00383-013-3326-4">doi:10.1007/s00383-013-3326-4</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/23708972">Pubmed</a>
- 9. Gonzalez-Crussi F. Ultrastructure of Congenital Fibrosarcoma. Cancer. 1970;26(6):1289-99. <a href="https://doi.org/10.1002/1097-0142(197012)26:6<1289::aid-cncr2820260616>3.0.co;2-r">doi:10.1002/1097-0142(197012)26:6<1289::aid-cncr2820260616>3.0.co;2-r</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/5483658">Pubmed</a>
- 10. Wells HG. Occurrence and significance of congenital malignant neoplasms. Arch Path 30:535-601, 1940.
- 1. W. H. O. Classification WHO Classification of Tumours Editorial Board, Who Classification of Tumours Editorial. Soft Tissue and Bone Tumours. (2020-04-17) ISBN: 9789283245025
- 2. Sargar K, Sheybani E, Shenoy A, Aranake-Chrisinger J, Khanna G. Pediatric Fibroblastic and Myofibroblastic Tumors: A Pictorial Review. Radiographics. 2016;36(4):1195-214. <a href="https://doi.org/10.1148/rg.2016150191">doi:10.1148/rg.2016150191</a>
- 3. Farmakis S, Herman T, Siegel M. Congenital Infantile Fibrosarcoma. J Perinatol. 2014;34(4):329-30. <a href="https://doi.org/10.1038/jp.2013.164">doi:10.1038/jp.2013.164</a>
- 4. Park K, van Rijn R, McHugh K. The Role of Radiology in Paediatric Soft Tissue Sarcomas. Cancer Imaging. 2008;8(1):102-15. <a href="https://doi.org/10.1102/1470-7330.2008.0014">doi:10.1102/1470-7330.2008.0014</a>
Tags changed:
- cases3
- soft tissue sarcoma