SDHC Methylation Pattern in Patients With Carney Triad

J 2021

SDHC Methylation Pattern in Patients With Carney Triad

DAUMOVA, Magdalena, Marian SVAJDLER, Pavel FABIAN, Leoš KŘEN, Iva BABANKOVA et. al.

Základní údaje

Originální název

SDHC Methylation Pattern in Patients With Carney Triad

Autoři

DAUMOVA, Magdalena (203 Česká republika), Marian SVAJDLER (203 Česká republika), Pavel FABIAN (203 Česká republika), Leoš KŘEN (203 Česká republika, domácí), Iva BABANKOVA (203 Česká republika), Marta JEŽOVÁ (203 Česká republika, domácí), Monika SEDIVCOVA (203 Česká republika), Tomas VANECEK (203 Česká republika), Kristyna BEHENSKA (203 Česká republika), Michal MICHAL (203 Česká republika) a Ondrej DAUM (203 Česká republika, garant)

Vydání

APPLIED IMMUNOHISTOCHEMISTRY & MOLECULAR MORPHOLOGY, PHILADELPHIA, LIPPINCOTT WILLIAMS & WILKINS, 2021, 1541-2016

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30109 Pathology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 1.992

Kód RIV

RIV/00216224:14110/21:00124184

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1097/PAI.0000000000000920

UT WoS

000696558400009

Klíčová slova anglicky

Carney triad; somatic mosaicism; SDHC; methylation

Štítky

14110230, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 16. 2. 2022 10:39, Mgr. Tereza Miškechová

Anotace

V originále

Carney triad is a multitumor syndrome affecting almost exclusively young women in a nonfamilial setting, which manifests by multifocal gastric gastrointestinal stromal tumors, paragangliomas, and pulmonary chondroma. The Carney triad-associated tumors are characterized by a deficiency of the mitochondrial succinate dehydrogenase enzymatic complex. Recently, it has been observed that the deficiency results from epigenetic silencing of the SDHC gene by its promoter hypermethylation. To elucidate anatomic distribution of SDHC promoter methylation in Carney triad patients and thus to shed some light on the possible natural development of this epigenetic change, both neoplastic and available non-neoplastic tissues of 3 patients with Carney triad were tested for hypermethylation at the SDHC promoter site. SDHC promoter hypermethylation was proven in all tumors studied. Lack of SDHC epigenetic silencing in the non-neoplastic lymphoid and duodenal tissue (ie, tissues not involved in the development of Carney triad-associated tumors) together with the finding of SDHC promoter hypermethylation in the non-neoplastic gastric wall favors the hypothesis of postzygotic somatic mosaicism as the biological background of Carney triad; it also offers an explanation of the multifocality of gastrointestinal stromal tumors of the stomach occurring in this scenario as well. However, the precise mechanism responsible for the peculiar organ-specific distribution of Carney triad-associated tumors is still unknown.

Citovat

DAUMOVA, Magdalena, Marian SVAJDLER, Pavel FABIAN, Leoš KŘEN, Iva BABANKOVA, Marta JEŽOVÁ, Monika SEDIVCOVA, Tomas VANECEK, Kristyna BEHENSKA, Michal MICHAL a Ondrej DAUM. SDHC Methylation Pattern in Patients With Carney Triad. APPLIED IMMUNOHISTOCHEMISTRY & MOLECULAR MORPHOLOGY. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS, 2021, roč. 29, č. 8, s. 599-605. ISSN 1541-2016. Dostupné z: https://dx.doi.org/10.1097/PAI.0000000000000920.

@article{1834658,
   author = {Daumova, Magdalena and Svajdler, Marian and Fabian, Pavel and Křen, Leoš and Babankova, Iva and Ježová, Marta and Sedivcova, Monika and Vanecek, Tomas and Behenska, Kristyna and Michal, Michal and Daum, Ondrej},
   article_location = {PHILADELPHIA},
   article_number = {8},
   doi = {http://dx.doi.org/10.1097/PAI.0000000000000920},
   keywords = {Carney triad; somatic mosaicism; SDHC; methylation},
   language = {eng},
   issn = {1541-2016},
   journal = {APPLIED IMMUNOHISTOCHEMISTRY & MOLECULAR MORPHOLOGY},
   title = {SDHC Methylation Pattern in Patients With Carney Triad},
   url = {https://journals.lww.com/appliedimmunohist/Abstract/2021/09000/SDHC_Methylation_Pattern_in_Patients_With_Carney.7.aspx},
   volume = {29},
   year = {2021}
}

TY  - JOUR
ID  - 1834658
AU  - Daumova, Magdalena - Svajdler, Marian - Fabian, Pavel - Křen, Leoš - Babankova, Iva - Ježová, Marta - Sedivcova, Monika - Vanecek, Tomas - Behenska, Kristyna - Michal, Michal - Daum, Ondrej
PY  - 2021
TI  - SDHC Methylation Pattern in Patients With Carney Triad
JF  - APPLIED IMMUNOHISTOCHEMISTRY & MOLECULAR MORPHOLOGY
VL  - 29
IS  - 8
SP  - 599-605
EP  - 599-605
PB  - LIPPINCOTT WILLIAMS & WILKINS
SN  - 15412016
KW  - Carney triad
KW  - somatic mosaicism
KW  - SDHC
KW  - methylation
UR  - https://journals.lww.com/appliedimmunohist/Abstract/2021/09000/SDHC_Methylation_Pattern_in_Patients_With_Carney.7.aspx
N2  - Carney triad is a multitumor syndrome affecting almost exclusively young women in a nonfamilial setting, which manifests by multifocal gastric gastrointestinal stromal tumors, paragangliomas, and pulmonary chondroma. The Carney triad-associated tumors are characterized by a deficiency of the mitochondrial succinate dehydrogenase enzymatic complex. Recently, it has been observed that the deficiency results from epigenetic silencing of the SDHC gene by its promoter hypermethylation. To elucidate anatomic distribution of SDHC promoter methylation in Carney triad patients and thus to shed some light on the possible natural development of this epigenetic change, both neoplastic and available non-neoplastic tissues of 3 patients with Carney triad were tested for hypermethylation at the SDHC promoter site. SDHC promoter hypermethylation was proven in all tumors studied. Lack of SDHC epigenetic silencing in the non-neoplastic lymphoid and duodenal tissue (ie, tissues not involved in the development of Carney triad-associated tumors) together with the finding of SDHC promoter hypermethylation in the non-neoplastic gastric wall favors the hypothesis of postzygotic somatic mosaicism as the biological background of Carney triad; it also offers an explanation of the multifocality of gastrointestinal stromal tumors of the stomach occurring in this scenario as well. However, the precise mechanism responsible for the peculiar organ-specific distribution of Carney triad-associated tumors is still unknown.
ER  -

DAUMOVA, Magdalena, Marian SVAJDLER, Pavel FABIAN, Leoš KŘEN, Iva BABANKOVA, Marta JEŽOVÁ, Monika SEDIVCOVA, Tomas VANECEK, Kristyna BEHENSKA, Michal MICHAL a Ondrej DAUM. SDHC Methylation Pattern in Patients With Carney Triad. \textit{APPLIED IMMUNOHISTOCHEMISTRY \&{}amp; MOLECULAR MORPHOLOGY}. PHILADELPHIA: LIPPINCOTT WILLIAMS \&{}amp; WILKINS, 2021, roč.~29, č.~8, s.~599-605. ISSN~1541-2016. Dostupné z: https://dx.doi.org/10.1097/PAI.0000000000000920.

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