Pediatr. praxi 2017; 18(6): 364-366 | DOI: 10.36290/ped.2017.071

Some lumps are different than others

MUDr. Kristýna Melichárková1,2, MUDr. Marie Ulrichová1, MUDr. Viera Bajčiová, CSc.1,2
1 1Klinika dětské onkologie LF MU a FN Brno
2 2Lékařská fakulta Masarykovy univerzity, Brno

Soft tissue tumors in children are mostly benign, but there are several serious diseases, that require comprehensive examinationand treatment. The authors present 3 case reports of children with soft tissue tumors, in which the new diagnostic methods at thelevel of DNA and RNA were fundamental. In the first patient, this method led to an unexpected diagnosis of fibrodysplasia ossificansprogressiva (FOP), and in the other two patients with familiar infantile myofibromatosis, it resulted in appropriate treatment.

Keywords: fibrodysplasia ossificans progressiva, myofibromatosis, ossification, soft tissue neoplasms

Published: December 1, 2017  Show citation

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Melichárková K, Ulrichová M, Bajčiová V. Some lumps are different than others. Pediatr. praxi. 2017;18(6):364-366. doi: 10.36290/ped.2017.071.
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    References

    1. Fletcher CDM, Unni KK, Mertens F. Weltgesundheitsorganisation, International Agency for Research on Cancer, editors. Pathology and genetics of tumours of soft tissue and bone; Lyon: IARC Press; 2002: 427. (World Health Organization Classification of tumours).
    2. Pizzo PA, Poplack DG, Adamson PC, et al. Principles and practice of pediatric oncology. Wolters Kluwer Health 2015: 1344.
    3. Marino-Enriquez A. Advances in the Molecular Analysis of Soft Tissue Tumors and Clinical Implications. Surg Pathol Clin. 2015; 8(3): 525-537. Go to original source... Go to PubMed...
    4. Shore EM, Xu M, Feldman GJ, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006; 38(5): 525-527. Go to original source... Go to PubMed...
    5. Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons. Pediatr Endocrinol Rev PER. 2013; 10(Suppl 2): 437-448. Go to PubMed...
    6. Pignolo RJ, Bedford-Gay C, Liljesthröm M, et al. The Natural History of Flare-Ups in Fibrodysplasia Ossificans Progressiva (FOP): A Comprehensive Global Assessment: NATURAL HISTORY OF FLARE-UPS IN FOP. J Bone Miner Res. 2016; 31(3): 650-656. Go to original source... Go to PubMed...
    7. Pignolo RJ, Kaplan FS. Clinical staging of Fibrodysplasia Ossificans Progressiva (FOP). Bone 2017 Sep. Go to original source...
    8. Cheung YH, Gayden T, Campeau PM, et al. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis. Am J Hum Genet. 2013; 92(6): 996-1000. Go to original source... Go to PubMed...
    9. Martignetti JA, Tian L, Li D, et al. Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis. Am J Hum Genet. 2013; 92(6): 1001-1007. Go to original source... Go to PubMed...
    10. Behar PM, Albritton FD, Muller S, et al. Multicentric infantile myofibromatosis. Int J Pediatr Otorhinolaryngol. 1998; 45(3): 249-254. Go to original source... Go to PubMed...
    11. Levine E, Fréneaux P, Schleiermacher G, et al. Risk-adapted therapy for infantile myofibromatosis in children. Pediatr Blood Cancer. 2012; 59(1): 115-120. Go to original source... Go to PubMed...
    12. Davies RS, Carty H, Pierro A. Infantile myofibromatosis-a review. Br J Radiol. 1994; 67(799): 619-623. Go to original source... Go to PubMed...

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