The document discusses a study investigating somatic activating KRAS mutations in arteriovenous malformations. The study aimed to determine if KRAS mutation is a genetic marker for arteriovenous malformation and analyze the relationship between abnormal MAPK-EPK signaling and tissue defects. The study analyzed 72 patients and found somatic activating KRAS mutations in arteriovenous malformation tissue samples. The findings suggest KRAS mutation may be a genetic factor associated with arteriovenous malformations.

1. Somatic Activating KRAS mutations
in arteriovenous malformation
S.I. Nikolaev, S. Vetiska, X. Bonilla, E.
Boudreau
Por: Diego Andrés Mejía Vasco

2. Introduction
Somatic mutation: This is the type of mutation
that happens in the somatic cells, which are all of
the cells of the body, except the sexual cells
KRAS: Is a gene that codificated a
protein with the same name, this
protein participate in the way of
molecular communication of the EGFR.
Arteriovenous malformations: It is a tangle
between the veins and the arteries, it happens
because the veins and the arteries are
communicated, but there are not capilars
Mutation: Is the change of a gene in
some base units or in a whole DNA
segment

3. Mutation Gene Kras
Arteriovenous
malformation
Somatic
Mutation
In this Article, the investigators are searching a somatic mutation in
the gene Kras and the relationship between that mutation and the
arteriovenous malformation.
Normally The mutation of the Kras is usually mutated in lungs no
microcyte cancer.

4. Objectives
 1. Determine if the KRAS mutation is a genetic marker for
an arteriovenous malformation.
 2. Analyze the relation ship between an abnormal MAPK-
EPK and some defects in the histological structure of the
tissue.

5. Métodos y materiales
 Se conto con la participación de 72 pacientes, 39
de ellos eran del grupo principal (canadienses) y
33 del grupo de validación (Finlandeses).
 Los pacientes fueron elegibles en el caso de tener
malformaciones arteriovenosas y que tuvieron un
shunt, demostrado por angiografía. Además
debían demostrar no tener antecedentes
familiares de malformaciones arteriovenosas. Ni
antecedentes de muerte a causa de problemas
vasculares de origen genético.

6.  WES (Whole exome sequencing)
 PCR

7.  Western Blot: Sirve para identificar proteínas especificas,
por electroforesis se separan proteínas, luego se pasan a
una membrana absorbente y ahí se pone un anticuerpo
que se una a la proteína y por último se detecta la unión
antígeno anticuerpo por enzimas o inmunofluorescencia.
 Inmunohistoquimica

8.  Inmunofluorescencia

13. Discussion
Authors What they said Yes or not
Couto JA, Vivero MP, Huang
AY
Somatic mutation MAP2K1 mutations
are associated with extracranial
arteriovenous malformation.
YES
Anglesio MS, Papadopoulos
N
Somatic activating KRAS mutations in
endometriosis do not cause cancer.
YES
Zhao Y, Adjei AA Clinical development of the MEK
inhibitors as a treatment.
YES
Findy N, Begg CF The finding of relatively low allele
frequencies of Kras variants in
sporadic arteriovenous malformations
of the brain, is consistent with the
cellular heterogeneity of
arteriovenous malformations.
YES

14. Conclusion
 1. The mutation of the KRAS is not only significant in the arteriovenous
malformation, this mutation is also in the 30 - 50% of the cases of Colorectal
Cancer and in 15 – 25% in Lung Cancer.
 2. Determine if the KRAS is mutated in the different pathologies it is
associated, will be so useful to choose the correct treatment for the patient,
by the way to attack the origin of the pathology.