Lipofibromatosis-like neural tumor

Lipofibromatosis-like neural tumor
SpecialtyPediatric or adult dermatology and surgery
Usual onsetChildren and young adults aged <1 to 38 years
CausesAn NTRK1- containing fusion gene in ~80% of cases
TreatmentSurgical resection of the tumor
PrognosisGood
FrequencyVery rare

Lipofibromatosis-like neural tumor (LPF-NT) is an extremely rare soft tissue tumor first described by Agaram et al in 2016.[1] As of mid-2021, at least 39 cases of LPF-NT have been reported in the literature.[2][3][4][5] LPF-NT tumors have several features that resemble lipofibromatosis (LPF) tumors,[6] malignant peripheral nerve sheath tumors, spindle cell sarcomas,[3] low-grade neural tumors, peripheral nerve sheath tumors, and other less clearly defined tumors;[1] Prior to the Agaram at al report, LPF-NTs were likely diagnosed as variants or atypical forms of these tumors. The analyses of Agaram at al and subsequent studies[4] uncovered critical differences between LPF-NT and the other tumor forms which suggest that it is a distinct tumor entity differing not only from lipofibromatosis but also the other tumor forms.[7]

LPF-NTs are locally invasive, are commonly treated by surgical excision, and have a relatively high rate of local recurrence if their surgical excisions are incomplete.[8] They are generally considered to be benign, non-metastasizing (i.e. not spreading to other parts of the body) tumors.[6][8] However, one case of LFT-NT reported by Agaram et al was associated with metastasis, apparently as a result of the tumor's cells transformation into a malignant sarcoma. Further studies are needed to determine the frequency of such cases and the overall metastatic potential of LPF-NT.[1]

LPF-NTs were given the "neural tumor" terminology because in at least some cases: 1) their tumor cells express S100 and CD34 but not SOX10 proteins, a pattern that is often found in neural[7] and neuroectodermal tumor cells;[1] and 2) their histopathology consists of tumor cell infiltrations into adipose tissues in a pattern that is very similar to that found in some low grade malignant peripheral nerve sheath tumors.[1]

  1. ^ a b c d e Agaram NP, Zhang L, Sung YS, Chen CL, Chung CT, Antonescu CR, Fletcher CD (October 2016). "Recurrent NTRK1 Gene Fusions Define a Novel Subset of Locally Aggressive Lipofibromatosis-like Neural Tumors". The American Journal of Surgical Pathology. 40 (10): 1407–16. doi:10.1097/PAS.0000000000000675. PMC 5023452. PMID 27259011.
  2. ^ Crumbach L, Descotes F, Bringuier PP, Poulalhon N, Balme B, Juliet T, Lopez J, Harou O (November 2020). "Lipofibromatosis-Like Neural Tumor: A Case Report and Review of the Literature". The American Journal of Dermatopathology. 42 (11): 881–884. doi:10.1097/DAD.0000000000001734. PMID 32618702. S2CID 220327572.
  3. ^ a b Dupuis M, Shen Y, Curcio C, Meis JM, Wang WL, Amini B, Rhines L, Reuther J, Roy A, Fisher KE, Conley AP, Andrew Livingston J (2020). "Successful treatment of lipofibromatosis-like neural tumor of the lumbar spine with an NTRK-fusion inhibitor". Clinical Sarcoma Research. 10: 14. doi:10.1186/s13569-020-00136-6. PMC 7412810. PMID 32782782.
  4. ^ a b Panse G, Reisenbichler E, Snuderl M, Wang WL, Laskin W, Jour G (February 2021). "LMNA-NTRK1 rearranged mesenchymal tumor (lipofibromatosis-like neural tumor) mimicking pigmented dermatofibrosarcoma protuberans". Journal of Cutaneous Pathology. 48 (2): 290–294. doi:10.1111/cup.13772. PMID 32519338. S2CID 219562066.
  5. ^ Wang H, Chen L (December 2020). "[Clinicopathological and molecular genetic features of lipofibromatosis-like neural tumor]". Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology (in Chinese). 49 (12): 1272–1275. doi:10.3760/cma.j.cn112151-20200319-00231. PMID 33287512.
  6. ^ a b Malik F, Santiago T, Newman S, McCarville B, Pappo AS, Clay MR (June 2020). "An addition to the evolving spectrum of lipofibromatosis and lipofibromatosis-like neural tumor: Molecular findings in an unusual phenotype aid in accurate classification". Pathology, Research and Practice. 216 (6): 152942. doi:10.1016/j.prp.2020.152942. PMID 32299759. S2CID 215803522.
  7. ^ a b Suurmeijer AJ, Dickson BC, Swanson D, Zhang L, Sung YS, Cotzia P, Fletcher CD, Antonescu CR (December 2018). "A novel group of spindle cell tumors defined by S100 and CD34 co-expression shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes". Genes, Chromosomes & Cancer. 57 (12): 611–621. doi:10.1002/gcc.22671. PMC 6746236. PMID 30276917.
  8. ^ a b Lao IW, Sun M, Zhao M, Yu L, Wang J (August 2018). "Lipofibromatosis-like neural tumour: a clinicopathological study of ten additional cases of an emerging novel entity". Pathology. 50 (5): 519–523. doi:10.1016/j.pathol.2018.03.007. PMID 29958731. S2CID 49615346.