PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly

Kritika Krishnamurthy; Ukuemi Edema; Berrin Ustun; Esperanza Villanueva-Siles; Steven M Koehler; Rizwan Naeem; Yanhua Wang; Doctor Y Goldstein

doi:10.1093/jscr/rjad549

PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly

J Surg Case Rep. 2023 Oct 14;2023(10):rjad549. doi: 10.1093/jscr/rjad549. eCollection 2023 Oct.

Authors

Kritika Krishnamurthy¹, Ukuemi Edema¹, Berrin Ustun^{1

2}, Esperanza Villanueva-Siles^{1

2}, Steven M Koehler^{2

3}, Rizwan Naeem^{1

2}, Yanhua Wang^{1

2}, Doctor Y Goldstein^{1

2}

Affiliations

¹ Department of Pathology, Montefiore Medical Center, Bronx, New York 10467, United States.
² Albert Einstein College of Medicine, Department of Pathology, Bronx, New York 10461, United States.
³ Department of Orthopedic Surgery, Montefiore Medical Center, Bronx, New York 10467, United States.

Abstract

PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%-1% of all congenital anomalies of the upper limb. This report describes a case of congenital, isolated, nonprogressive macrodactyly of the right index finger and thumb, in an adult patient that was treated with debulking surgery. The microscopic features were compatible with lipomatosis of nerve. Due to the prompt and pertinent molecular testing, which identified a somatic PIK3CA variant, c.3140A > G, p.H1047R., the case was classified as a PROS. The availability of mTOR inhibitors offers additional treatment possibilities in cases with progressive disease. This case report highlights the importance of molecular testing to identify PROS, to further the knowledge of this continually expanding entity.

Keywords: PIK3CA; PIK3CA-related overgrowth spectrum; PROS; mTOR inhibitors; mTOR pathway; macrodactyly.

Publication types

Case Reports