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. 2021 Feb;48(2):211-216.
doi: 10.1111/cup.13809. Epub 2020 Sep 6.

Frequent activating PIK3CA mutations in sporadic angiolipoma

Andrea Saggini  1 , Carlos Santonja  2 , Laura Nájera  3 , Gabriele Palmedo  1 , Heinz Kutzner  1
Affiliations

Frequent activating PIK3CA mutations in sporadic angiolipoma

Andrea Saggini et al. J Cutan Pathol. 2021 Feb.

Abstract

Background: Angiolipoma (AL) is considered as a lipoma variant that is characterized by the combination of mature adipocytes and capillary blood vessels diffusely distributed within the tumor. With the exception of recurrent PRKD2 mutations of uncertain pathogenetic significance, the genetic abnormalities of ALs are unknown, in the absence of any of the specific chromosomal aberrations described in other lipoma variants.

Methods: Formalin-fixed and paraffin-embedded blocks of 13 conventional ALs and 5 cellular ALs from 17 individuals were retrieved and analyzed for mutations in exons 9 and 20 of PIK3CA by polymerase chain reaction and Sanger sequencing.

Results: Activating PIK3CA mutations were identified in 14 tumors (78%). All PIK3CA-mutated samples carried the same exon 9 mutation, c.1634A>C (p.E545A). No mutation was detected in exon 20 of PIK3CA. No significant difference between PIK3CA-mutated and wild-type samples appeared to exist based on age, gender, and location of the tumor. All 5 cellular ALs carried the p.E545A PIK3CA mutation.

Conclusion: The high frequency of the p.E545A PIK3CA mutation in both conventional and cellular ALs suggests that activation of the PI3K/AKT pathway plays a key role in AL pathogenesis and reinforces the concept that cellular AL should be regarded as a variant of AL.

Keywords: PIK3CA; angiolipoma; hemangioma; lipoma; vascular malformation.

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References

REFERENCES

    1. Kryvenko ON, Chitale DA, VanEgmond EM, et al. Angiolipoma of the female breast: clinicomorphological correlation of 52 cases. Int J Surg Pathol. 2011;19(1):35-43.
    1. Noel JC, Van Geertruyden J, Engohan-Aloghe C. Angiolipoma of the breast in a male: a case report and review of the literature. Int J Surg Pathol. 2011;19(6):813-816.
    1. Sciot R, Akerman M, Dal Cin P, et al. Cytogenetic analysis of subcutaneous angiolipoma: further evidence supporting its difference from ordinary pure lipomas: a report of the CHAMP study group. Am J Surg Pathol. 1997;21(4):441-444.
    1. Lapidoth M, Ben Amitai D, Feinmesser M, Akerman L. Capillary malformation associated with angiolipoma: analysis of 127 consecutive clinic patients. Am J Clin Dermatol. 2008;9(6):389-392.
    1. Castillo SD, Baselga E, Graupera M. PIK3CA mutations in vascular malformations. Curr Opin Hematol. 2019;26(3):170-178.

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