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Inicio Medicina Clínica (English Edition) PIK3CA-related overgrowth spectrum (PROS): New insight in known diseases
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Vol. 157. Issue 10.
Pages 483-488 (November 2021)
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Vol. 157. Issue 10.
Pages 483-488 (November 2021)
Review
PIK3CA-related overgrowth spectrum (PROS): New insight in known diseases
Síndromes de sobrecrecimiento relacionados con PIK3CA (PROS): Conocimiento nuevo de enfermedades conocidas
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Adriana Iriarte Fustera, Pau Cerdà Serraa, Antoni Riera-Mestrea,b,
Corresponding author
ariera@bellvitgehospital.cat

Corresponding author.
a Unidad de HHT y otras Enfermedades Minoritarias Vasculares, Servicio de Medicina Interna, Hospital Universitari de Bellvitge, Barcelona, Spain
b Facultad de Medicina y Ciencias de la Salud, Universitat de Barcelona, Barcelona, Spain
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Tables (3)
Table 1. Spectrum of syndromic or isolated overgrowths associated with the PIK3CA gene.
Table 2. Established clinical criteria for the diagnosis of patients with PIK3CA-related overgrowth spectrum.
Table 3. Differential diagnosis of PROS syndromes versus other somatic overgrowth disorders associated with the PI3K/AKT/mTOR pathway.
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Abstract

The overgrowth syndromes related to phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) are grouped under the concept of PROS (PIK3CA-related overgrowth spectrum). It is a heterogeneous group of diseases, considered a rare disease (ORPHA: 530,313), which combines the presence of vascular malformations with segmental overgrowth of some parts of the body. All these diseases are caused by mutations in the gene that encodes for the alpha subunit of PI3K. These mutations are somatic and take place during the embryonic stage. Depending on the stage of embryonic development and the affected germ layers, the phenotype will be very different, from syndromes with extensive involvement to isolated forms. Although there are clinical criteria, identification of the mutation by biopsy, although complex, confirms the diagnosis. The objective of the present study is to review the pathophysiological, clinical, diagnostic, and therapeutic aspects of PROS, in order to optimize its identification.

Keywords:
PIK3CA-related overgrowth spectrum (PROS)
Phosphatidylinositol 4,5-bisphosphate 3-kinase (PI3K)
Vascular malformation
Rare diseases
Resumen

Los síndromes de sobrecrecimiento relacionados con la fosfatidilinositol-4,5-bifosfato 3-cinasa (PI3K), se agrupan bajo el concepto de PROS (PIK3CA-related overgrowth spectrum). Son un grupo heterogéneo de entidades, considerado una enfermedad minoritaria (ORPHA: 530313), que combina la presencia de malformaciones vasculares con el sobrecrecimiento segmentario de algunas partes del cuerpo. Todas estas enfermedades están causadas por mutaciones en el gen que codifica la subunidad alfa de la PI3K. Estas mutaciones son somáticas y tienen lugar durante la embriogénesis. Dependiendo del momento del desarrollo embrionario que se produzcan y a qué hoja precursora afecten, el fenotipo será muy distinto, desde síndromes con extensa afectación a formas aisladas. Aunque existen unos criterios clínicos, la identificación de la mutación mediante realización de una biopsia, aunque compleja, confirma el diagnóstico. El objetivo del presente trabajo es revisar los aspectos fisiopatológicos, clínicos, diagnósticos y terapéuticos del PROS, con el fin de optimizar su identificación.

Palabras clave:
Síndromes de sobrecrecimiento relacionados con PIK3CA (PROS)
fosfatidilinositol-4,5-bifosfato 3-cinasa (PI3K)
Malformaciones vasculares
Enfermedades minoritarias

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