Figure 1
Initial right hand pictures
Clinical History
Growing soft tissue mass of the right hand.
Imaging Findings
The patient presented with a growing soft tissue mass in the right hand. There was already an unclear history of a hand mass labelled haemangioma at the age of 5 months. On admission the right hand was, on its palmar and dorsal sides, swollen and red but not warm (Fig. 1). On laboratory examination, there were no remarkable findings. X-ray (Fig. 2) and MRI (Fig. 3) studies were performed. The histopathological assessment after biopsy showed an infantile fibrosarcoma. On complete evaluation there were no metastasis and the patient underwent chemotherapy (vincristin and cyclophosphamide) and surgery. On follow-up local recurrences were observed on the thenar and hypothenar eminences (Fig. 4).
Discussion
Fibroblastic an myofibroblasic tumors account for about 10% of soft tissue neoplasms in childhood, being 4th in frequency after vascular, neural and rhabdomyomatosis tumours.
Many types of childhood fibrous tumours can be distinguished, based on histopathological and clinical criteria. Benign tumors are called fibromatosis while malignant tumors are known as fibrosarcomas.
Some of them present characteristic features in their clinical and radiological manifestations such as fibromatosis colli, multicentric infantile myofibromatosis but also fibrous hamartoma of infancy and angiofibroma. Sometimes this permits a diagnosis even without histology.
The imaging features of infantile-congenital fibrosarcoma are non specific, that is why it is important to make a diagnostic approach, considering not only its radiological features but also its clinical features.
Fibrosarcoma is a malignant tumour which develops in connective tissue (of fibroblastic and myofibroblastic origin). Two forms can be distinguished: the adult form (at the age of 15 years and over) and the infantile/congenital form. In childhood, it accounts for less than 1% of tumours, and occurs exclusively before the age of 2 years, with 50% of cases in neonates. It generally involves the extremities and the trunk, but may also be seen in the head, neck, abdomen and retroperitoneum.
The aetiology of fibrosarcoma remains unknown. Congenital forms are associated with genetic disorders: chromosomal translocations t(12;15); (p13;q25) with ETV6-NTRK3 gene fusion. This gene fusion is also found in congenital mesoblastic nephroma and in acute myeloblastic leukaemia.
Clinical and imaging aspects are non-specific. X-rays, US, CT and MRI define the tumour border tissues and eventual spread. US evaluation is useful in assessing the cystic, tissular or vascular nature of the lesions. On MRI, spin echo T1-weighted images before and after gadolinium and T2-weighted images are sufficient in most cases. Fat suppression images add additional information if the tumour displays heteregeneous components.
Differential diagnosis includes rhabdomyosarcoma, vascular tumours, and other soft tissues tumours. This underlines the fact that histology is always mandatory.
Treatment of infantile fibrosarcoma consists of surgical removal. Chemotherapy before and after surgery is needed in some cases, as is additional radiotherapy. Metastasis occurs in 10% of cases, especially to bone and lungs. There is a good survival rate (75-90%), even though local recurrence is about 5-50% for cases with incomplete resection.
Many types of childhood fibrous tumours can be distinguished, based on histopathological and clinical criteria. Benign tumors are called fibromatosis while malignant tumors are known as fibrosarcomas.
Some of them present characteristic features in their clinical and radiological manifestations such as fibromatosis colli, multicentric infantile myofibromatosis but also fibrous hamartoma of infancy and angiofibroma. Sometimes this permits a diagnosis even without histology.
The imaging features of infantile-congenital fibrosarcoma are non specific, that is why it is important to make a diagnostic approach, considering not only its radiological features but also its clinical features.
Fibrosarcoma is a malignant tumour which develops in connective tissue (of fibroblastic and myofibroblastic origin). Two forms can be distinguished: the adult form (at the age of 15 years and over) and the infantile/congenital form. In childhood, it accounts for less than 1% of tumours, and occurs exclusively before the age of 2 years, with 50% of cases in neonates. It generally involves the extremities and the trunk, but may also be seen in the head, neck, abdomen and retroperitoneum.
The aetiology of fibrosarcoma remains unknown. Congenital forms are associated with genetic disorders: chromosomal translocations t(12;15); (p13;q25) with ETV6-NTRK3 gene fusion. This gene fusion is also found in congenital mesoblastic nephroma and in acute myeloblastic leukaemia.
Clinical and imaging aspects are non-specific. X-rays, US, CT and MRI define the tumour border tissues and eventual spread. US evaluation is useful in assessing the cystic, tissular or vascular nature of the lesions. On MRI, spin echo T1-weighted images before and after gadolinium and T2-weighted images are sufficient in most cases. Fat suppression images add additional information if the tumour displays heteregeneous components.
Differential diagnosis includes rhabdomyosarcoma, vascular tumours, and other soft tissues tumours. This underlines the fact that histology is always mandatory.
Treatment of infantile fibrosarcoma consists of surgical removal. Chemotherapy before and after surgery is needed in some cases, as is additional radiotherapy. Metastasis occurs in 10% of cases, especially to bone and lungs. There is a good survival rate (75-90%), even though local recurrence is about 5-50% for cases with incomplete resection.
Differential Diagnosis List
Infantile fibrosarcoma of the hand
Final Diagnosis
Infantile fibrosarcoma of the hand
References
[1]
Cecchetto G, Carli M, Alaggio R, Dall'Igna P, Bisogno G, Scarzello G, Zanetti I, Durante G, Inserra A, Siracusa F, Guglielmi M.
Fibrosarcoma in pediatric patients: results of the Italian Cooperative Group studies (1979-1995).
J Surg Oncol. 2001 Dec;78(4):225-31. (PMID: 11745814)
[2]
Cofer BR, Vescio PJ, Wiener ES.
Infantile fibrosarcoma: complete excision is the appropriate treatment.
Ann Surg Oncol. 1996 Mar;3(2):159-61. (PMID: 8646516)
[3]
Eich GF, Hoeffel JC, Tschappeler H, Gassner I, Willi UV.
Fibrous tumours in children: imaging features of a heterogeneous group of disorders.
Pediatr Radiol. 1998 Jul;28(7):500-9. (PMID: 9662567)
[4]
Rubin BP, Chen CJ, Morgan TW, Xiao S, Grier HE, Kozakewich HP, Perez-Atayde AR, Fletcher JA.
Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma.
Am J Pathol. 1998 Nov;153(5):1451-8. (PMID: 9811336)
[5]
Kothari KC.
Congenital infantile fibrosarcoma.
Eur J Surg Oncol. 1999 Feb;25(1):94-6. (PMID: 10188864)
Case information
| URL: | https://eurorad.org/case/2029 |
| DOI: | 10.1594/EURORAD/CASE.2029 |
| ISSN: | 1563-4086 |
Figure 2
Frontal view of the mass: initial X-ray
The tumour is located on the ulnar side and involves the carpus, metacarpus and phalanges. No osseous lesion is clearly identified.
Figure 3
Initial MRI evaluation
Coronal view on T1-weighted imaging: soft tissue mass isointense to muscle with a hypersignal area inside the lesion (haemorrhagic or fatty origin?). Signs of vascular compression upstream.
T2-weighted STIR image: the central area still displays a hypersignal which indicates its haemorrhagic origin.
T1-weighted image after gadolinium: there is general enhancement of the tumour except the haemorrhagic area.
Frontal view of the mass: initial X-ray
The tumour is located on the ulnar side and involves the carpus, metacarpus and phalanges. No osseous lesion is clearly identified.
Initial MRI evaluation
Coronal view on T1-weighted imaging: soft tissue mass isointense to muscle with a hypersignal area inside the lesion (haemorrhagic or fatty origin?). Signs of vascular compression upstream.
T2-weighted STIR image: the central area still displays a hypersignal which indicates its haemorrhagic origin.
T1-weighted image after gadolinium: there is general enhancement of the tumour except the haemorrhagic area.
