Analysis regarding a possible association of viral infection with the development of head & neck vascular anomalies

Introduction:

Vascular anomalies (VA) in the head & neck area can lead to problems such as dyspnea and bleeding. VA encompass vascular malformations (VM: arteriovenous (AVM)-, lymphatic (LM)-, venous-lymphatic (VeLM)-, venous (VeM) malformations) and hemangiomas (HA). The pathogenesis of VA, despite recent findings of mutations in the PIK3CA gene, is still poorly understood. Own observations pointed to an association of VA and human papillomavirus (HPV) infection.

Methods:

Immunohistochemical analysis (4xAVM, 4xHA, 3xLM, 2xVeM, 5xVM-not otherwise specified (n.o.s.)) was performed with antibodies against the viral proteins E1, E4, E6, E7, L1 of HPV 16 and 18 and the antibody clone K1H8 that detects HPV types 6, 11, 16, 18, 31, 33, 42, 51, 52, 56, 58. In addition, expression of the HPV surrogate marker p16INK4a was evaluated in 6 VA (2xAVM, 1xLM, 2xVeM, 1xVM-n.o.s.). Sequencing of RNA (RNA-Seq), derived from AVM (n = 4) and normal skin control tissues (n = 3) was performed at the EMBL-Genomics Core Facility (Heidelberg). For high-sensitivity detection of viral transcripts, the Virome-Capture-Sequencing Platform for Vertebrate Viruses (VirCapSeq-VERT) was utilized (Columbia University, NY).

Results:

Immunohistochemistry did not confirm an association of HPV and VA. RNA-Seq using RNA from AVM and skin control tissues did not show a correlation of AVM and viral infection. Using the high sensitivity platform VirCapSeq-VERT, no viral RNA was detected in the tested VA tissues (2xAVM, 1xHA, 1xLM, 2xVeLM, 4xVeM).

Conclusions:

The analysis does not point to the presence of an active viral infection in VA. However, potential retrograde, transient viral events during pregnancy cannot be excluded with this approach.

Publication History

Publication Date:
18 April 2018 (online)