Preview

Healthcare

Advanced search

Myxoid neurofibroma

Abstract

Objective. Detection of voluminous formation of soft tissues in the right axillary region in a patient with an aggravated hereditary anamnesis (having a mother diagnosed with breast cancer).

Materials and methods. The authors present their own observation of a rare pathology detected with the help of instrumental methods of research. The current literature data on the prevalence, peculiarities of clinical and histomorphological manifestations of myxoid neurofibroma are presented.

Results. Instrumental research methods have established the exact localization of the tumor, its topographic location in relation to the surrounding tissues, which made it possible to perform surgical removal of the lump in full. However, the final diagnosis: myxoid neurofibroma is based on the results of histological examination.

Conclusion. Differential diagnosis of myxoid neurofibroma using instrumental research methods has limitations. The exact diagnosis is based on the data of histological verification of the tumor and molecular genetic testing.

About the Authors

I. V. Sopich
ООО «Клиника «Мерси»
Belarus


A. A. Harbul
Минский клинический консультативно-диагностический центр
Belarus


Yu. Yu. Baranouskaya
ООО «Здоровое решение»
Belarus


A. V. Eroshenko
Минский городской клинический онкологический центр
Belarus


S. N. Kiyashko
Минский городской клинический онкологический центр
Belarus


References

1. Uhlmann, E. J. Neurofibromatoses / E. J. Uhlmann, S. R. Plotkin // Adv. Exp. Med. Biol. — 2012. — № 724. — P. 266—277.

2. Becker, B. Phakomatoses / B. Becker, R. E. Strowd // Dermatologic Clin. — 2019. — № 37. — P. 583—606.

3. Ostendorf, A. P. Neurofibromatoses / A. P. Ostendorf, D. H. Gutmann // Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease / eds.: R. N. Rosenberg, J. M. Pascual. — Massachusett, 2015. — P. 921—933.

4. D’Gama, A. M. Somatic mosaicism and neurodevelopmental disease / A. M. D’Gama, C. A. Walsh // Nature Neurosci. — 2018. — № 21. — P. 1504—1514.

5. Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing / D. G. Evans [et al.] // Genet. Med. — 2020. — Vol. 22, № 1. — P. 53—59.

6. Clinical features of 58 Japanese patients with mosaic neurofibromatosis 1 / K. Tanito [et al.] // J. Dermatology. — 2014. — Vol. 41, № 8. — P. 724—728.

7. Identifying challenges in neurofibromatosis: a modified Delphi procedure / B. A. Dhaenens [et al.] // Eur. J. Hum. Genet. — 2021. — Vol. 29, № 11. — P. 1—9.

8. Neurofibromatosis type 1: review and update on emerging therapies / T. Karaconji [et al.] // Asia Pac. J. Ophthalmol. — 2019. — Vol. 8, № 1. — P. 62—72.

9. Early genetic diagnosis of neurofibromatosis type 2 from skin plaque plexiform schwannomas in childhood / E. Castellanos [et al.] // JAMA Dermatol. — 2018. — Vol. 154, № 3. — P. 341—346.

10. Neurofibromatosis type 1 / D. H. Gutmann [et al.] // Nat. Rev. Dis. Primers. — 2017. — Vol. 23, № 3. — P. 1—7.

11. Hernandez-Martin, A. An update on neurofibromatosis type 1: not just Cafe-au-Lait spots and freckling. Part II. Other skin manifestations characteristic of NF1. NF1 and cancer / A. Hernandez-Martin, A. Duat-Rodriguez // Actas Dermo-Sifiliograficas (Eng. Edn). — 2016. — Vol. 107, iss. 6. — P. 465—473.

12. Severe thoracic and spinal bone abnormalities in neurofibromatosis type 1 / L. Prudhomme [et al.] // Eur. J. Med. Genet. — 2020. — Vol. 63, № 4. — P. 103815.

13. Craniofacial bone alterations in patients with neurofibromatosis type 1 / J. Chauvel-Picard [et al.] // Childs. Nerv. Syst. — 2020. — Vol. 36, № 10. — P. 2391—2399.

14. Messersmith, L. Neurofibroma [Electronic resource] / L. Messersmith, K. Krauland — StatPearls Publishing, 2021. — Mode of access: https://www.statpearls.com/pointof-care/25784. — Date of access: 24.04.2024.

15. Garozzo, D. Peripheral nerve tumors in neurofibromatosis 1 : an overview on management and indications for surgical treatment in our experience / D. Garozzo // Neurol. India. — 2019. — Vol. 67 (Suppl.). — P. 38—S44.

16. Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1 / A. M. Gross [et al.] // Neurol. Oncol. — 2018. — Vol. 20, № 12. — P. 1643—1651.

17. Nix, J. S. An update on the central nervous system manifestations of neurofibromatosis type 1 / J. S. Nix, J. Blakeley, F. J. Rodriguez // Acta Neuropathol. — 2020. — Vol. 139, № 4. — P. 625—641.

18. Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience / C. Santoro [et al.] // Am. J. Med. Genet. A. — 2017. — Vol. 173, № 6. — P. 1521—1530.

19. Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1 / H. Morotti [et al.] // Dev. Med. Child. Neurol. — 2021. — Vol. 63, № 2. — P. 226—232.

20. Neurofibromatosis type 1 and cardiac manifestations / F. Incecik [et al.] // Turk. Kardiyol. Dern. Ars. — 2015. — Vol. 43, № 8. — P. 714—716.

21. Epilepsy in neurofibromatosis type 1 / A. Pecoraro [et al.] // Epilepsy Behav. — 2017. — Vol. 73. — P. 137—141.

22. Yapijakis, C. Neurofibromatosis-Noonan syndrome: a possible paradigm of the combination of genetic and epigenetic factors // C. Yapijakis, N. Pachis, C. Voumvourakis // Adv. Exp. Med. Biol. — 2017. — Vol. 987. — P. 151—159.

23. Kehrer-Sawatzki, H. Classification of NF1 microdeletions and its importance for establishing genotype/ phenotype correlations in patients with NF1 microdeletions / H. Kehrer-Sawatzki, D. N. Cooper // Hum. Genet. — 2021. — Vol. 140, № 12. — P. 1635—1649.

24. Tadini, G. Mosaic NF1 / G. Tadini, T. Schgor, M. Brena // Multidisciplinary Approach to Neurofibromatosis Type 1 / eds.: G. Tadini, E. Legius, H. Brems. — New York, 2020.

25. Genotype-phenotype correlations in neurofibromatosis type 1: a singlecenter cohort study / M. Scala [et al.] // Cancers (Basel). — 2021. — Vol. 13, № 8. — P. 1879.

26. Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844—848 / M. Koczkowska [et al.] // Am. J. Hum. Genet. — 2018. — Vol. 102, № 1. — P. 69—87.

27. p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas / V. Pinna [et al.] // Eur. J. Hum. Genet. —2015. — Vol. 23, № 8. — P. 1068—1071.

28. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1 / O. Maertens [et al.] // Am. J. Hum. Genet. — 2007. — Vol. 81, № 2. — P. 243—251.


Review

For citations:


Sopich I.V., Harbul A.A., Baranouskaya Yu.Yu., Eroshenko A.V., Kiyashko S.N. Myxoid neurofibroma. Healthcare. 2024;1(8):45—51. (In Russ.)

Views: 8


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1027-7218 (Print)