TY - JOUR
T1 - Sporadic superficial angiomyxomas demonstrate loss of PRKAR1A expression
AU - Hafeez, Farhaan
AU - Krakowski, Andrew C.
AU - Lian, Christine G.
AU - Nazarian, Rosalynn M.
AU - Maleszewski, Joseph J.
N1 - Publisher Copyright:
© 2022 John Wiley & Sons Ltd.
PY - 2022/5
Y1 - 2022/5
N2 - Superficial angiomyxomas are cutaneous mesenchymal tumours that typically present clinically as slow-growing, solitary, asymptomatic nodules that can occur at any age. Histopathologically, these dermal and subcutaneous tumours are characterized by abundant myxoid stroma, numerous thin-walled and often arbourising blood vessels, and spindled to stellate fibroblast-like cells. While usually sporadic, superficial angiomyxomas can occasionally be associated with Carney complex (CNC), an autosomal dominant disorder characterized by inactivating germline mutations in the 1-alpha regulatory subunit of protein kinase A (PRKAR1A) and various clinical manifestations, including cardiac myxomas, facial lentigines, epithelioid blue naevi, endocrinopathies and psammomatous melanotic schwannomas. In this study, we sought to characterize the presence or absence of PRKAR1A expression by immunohistochemistry (IHC) in sporadic superficial angiomyxomas based on our observations in an index case. In total, PRKAR1A immunohistochemical expression was determined in 15 sporadic superficial angiomyxoma cases retrieved from the surgical pathology archives. IHC demonstrated that the lesional cells in 12 cases (80%) were non-reactive to antibodies against PRKAR1A. This study provides evidence in support of a role for PRKAR1A in the development of clinically non-syndromic superficial angiomyxomas. Together with previous studies, this report demonstrates that PRKAR1A may play an important role in the development of a variety of myxomatous mesenchymal tumours.
AB - Superficial angiomyxomas are cutaneous mesenchymal tumours that typically present clinically as slow-growing, solitary, asymptomatic nodules that can occur at any age. Histopathologically, these dermal and subcutaneous tumours are characterized by abundant myxoid stroma, numerous thin-walled and often arbourising blood vessels, and spindled to stellate fibroblast-like cells. While usually sporadic, superficial angiomyxomas can occasionally be associated with Carney complex (CNC), an autosomal dominant disorder characterized by inactivating germline mutations in the 1-alpha regulatory subunit of protein kinase A (PRKAR1A) and various clinical manifestations, including cardiac myxomas, facial lentigines, epithelioid blue naevi, endocrinopathies and psammomatous melanotic schwannomas. In this study, we sought to characterize the presence or absence of PRKAR1A expression by immunohistochemistry (IHC) in sporadic superficial angiomyxomas based on our observations in an index case. In total, PRKAR1A immunohistochemical expression was determined in 15 sporadic superficial angiomyxoma cases retrieved from the surgical pathology archives. IHC demonstrated that the lesional cells in 12 cases (80%) were non-reactive to antibodies against PRKAR1A. This study provides evidence in support of a role for PRKAR1A in the development of clinically non-syndromic superficial angiomyxomas. Together with previous studies, this report demonstrates that PRKAR1A may play an important role in the development of a variety of myxomatous mesenchymal tumours.
KW - Carney complex
KW - PRKAR1A
KW - cutaneous myxoma
KW - dermatopathology
KW - soft tissue pathology
KW - superficial angiomyxoma
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U2 - 10.1111/his.14568
DO - 10.1111/his.14568
M3 - Article
C2 - 34532875
AN - SCOPUS:85121294238
SN - 0309-0167
VL - 80
SP - 1001
EP - 1003
JO - Histopathology
JF - Histopathology
IS - 6
ER -