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First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications

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First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications. / Löffler, Markus W; Steinhilber, Julia; Hilke, Franz J; Haen, Sebastian P; Bösmüller, Hans; Montes-Mojarro, Ivonne-Aidee; Bonzheim, Irina; Stäbler, Antje; Faust, Ulrike; Grasshoff, Ute; Königsrainer, Ingmar; Rammensee, Hans-Georg; Kanz, Lothar; Königsrainer, Alfred; Beckert, Stefan; Riess, Olaf; Schroeder, Christopher.

in: BMC MED GENET, Jahrgang 19, Nr. 1, 15.08.2018, S. 144.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Löffler, MW, Steinhilber, J, Hilke, FJ, Haen, SP, Bösmüller, H, Montes-Mojarro, I-A, Bonzheim, I, Stäbler, A, Faust, U, Grasshoff, U, Königsrainer, I, Rammensee, H-G, Kanz, L, Königsrainer, A, Beckert, S, Riess, O & Schroeder, C 2018, 'First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications', BMC MED GENET, Jg. 19, Nr. 1, S. 144. https://doi.org/10.1186/s12881-018-0651-4

APA

Löffler, M. W., Steinhilber, J., Hilke, F. J., Haen, S. P., Bösmüller, H., Montes-Mojarro, I-A., Bonzheim, I., Stäbler, A., Faust, U., Grasshoff, U., Königsrainer, I., Rammensee, H-G., Kanz, L., Königsrainer, A., Beckert, S., Riess, O., & Schroeder, C. (2018). First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications. BMC MED GENET, 19(1), 144. https://doi.org/10.1186/s12881-018-0651-4

Vancouver

Löffler MW, Steinhilber J, Hilke FJ, Haen SP, Bösmüller H, Montes-Mojarro I-A et al. First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications. BMC MED GENET. 2018 Aug 15;19(1):144. https://doi.org/10.1186/s12881-018-0651-4

Bibtex

@article{e6e7bfa62bf14ea08727517ebf153dff,
title = "First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications",
abstract = "BACKGROUND: The PTEN-hamartoma-tumor-syndrome (PHTS) is caused by germline mutations in Phosphatase and Tensin homolog (PTEN) and predisposes to the development of several typical malignancies. Whereas PTEN mutations have been implicated in the occurrence of malignant mesotheliomas, the genetic landscape of verrucous carcinomas (VC) is largely uncharted. Both VC and malignant peritoneal mesotheliomas (MPM) are exceedingly rare and a potential link between these malignancies and PHTS has never been reported.CASE PRESENTATION: We here describe the clinical course of a PHTS patient who, in addition to a typical thyroid carcinoma at the age of 36 years, developed a highly-differentiated oral VC and an epithelioid MPM six years later. The patient with a history of occupational asbestos exposure underwent cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for MPM. The clinical diagnosis of PHTS was consequently corroborated by a germline PTEN deletion. Sequencing of tumor tissue revealed a second hit in PTEN in the thyroid carcinoma and VC, confirmed by a PTEN loss and activation of the PI3K/AKT pathway in immunohistochemistry. Furthermore, additional somatic mutations in the thyroid carcinoma as well as in the VC were detected, whereas the genetics of MPM remained unrevealing.DISCUSSION AND CONCLUSIONS: We here report the very unusual clinical course of a patient with rare tumors that have a germline mutation first hit in PTEN in common. Since this patient was exposed to asbestos and current evidence suggests molecular mechanisms that might render PHTS patients particularly susceptible to mesothelioma, we strongly recommend PHTS patients to avoid even minimal exposure.",
keywords = "Carcinoma, Verrucous/genetics, Germ-Line Mutation/genetics, Humans, Lung Neoplasms/genetics, Mesothelioma/genetics, Mouth Neoplasms/genetics, PTEN Phosphohydrolase/genetics, Rare Diseases",
author = "L{\"o}ffler, {Markus W} and Julia Steinhilber and Hilke, {Franz J} and Haen, {Sebastian P} and Hans B{\"o}sm{\"u}ller and Ivonne-Aidee Montes-Mojarro and Irina Bonzheim and Antje St{\"a}bler and Ulrike Faust and Ute Grasshoff and Ingmar K{\"o}nigsrainer and Hans-Georg Rammensee and Lothar Kanz and Alfred K{\"o}nigsrainer and Stefan Beckert and Olaf Riess and Christopher Schroeder",
year = "2018",
month = aug,
day = "15",
doi = "10.1186/s12881-018-0651-4",
language = "English",
volume = "19",
pages = "144",
journal = "BMC MED GENET",
issn = "1471-2350",
publisher = "BioMed Central Ltd.",
number = "1",

}

RIS

TY - JOUR

T1 - First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications

AU - Löffler, Markus W

AU - Steinhilber, Julia

AU - Hilke, Franz J

AU - Haen, Sebastian P

AU - Bösmüller, Hans

AU - Montes-Mojarro, Ivonne-Aidee

AU - Bonzheim, Irina

AU - Stäbler, Antje

AU - Faust, Ulrike

AU - Grasshoff, Ute

AU - Königsrainer, Ingmar

AU - Rammensee, Hans-Georg

AU - Kanz, Lothar

AU - Königsrainer, Alfred

AU - Beckert, Stefan

AU - Riess, Olaf

AU - Schroeder, Christopher

PY - 2018/8/15

Y1 - 2018/8/15

N2 - BACKGROUND: The PTEN-hamartoma-tumor-syndrome (PHTS) is caused by germline mutations in Phosphatase and Tensin homolog (PTEN) and predisposes to the development of several typical malignancies. Whereas PTEN mutations have been implicated in the occurrence of malignant mesotheliomas, the genetic landscape of verrucous carcinomas (VC) is largely uncharted. Both VC and malignant peritoneal mesotheliomas (MPM) are exceedingly rare and a potential link between these malignancies and PHTS has never been reported.CASE PRESENTATION: We here describe the clinical course of a PHTS patient who, in addition to a typical thyroid carcinoma at the age of 36 years, developed a highly-differentiated oral VC and an epithelioid MPM six years later. The patient with a history of occupational asbestos exposure underwent cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for MPM. The clinical diagnosis of PHTS was consequently corroborated by a germline PTEN deletion. Sequencing of tumor tissue revealed a second hit in PTEN in the thyroid carcinoma and VC, confirmed by a PTEN loss and activation of the PI3K/AKT pathway in immunohistochemistry. Furthermore, additional somatic mutations in the thyroid carcinoma as well as in the VC were detected, whereas the genetics of MPM remained unrevealing.DISCUSSION AND CONCLUSIONS: We here report the very unusual clinical course of a patient with rare tumors that have a germline mutation first hit in PTEN in common. Since this patient was exposed to asbestos and current evidence suggests molecular mechanisms that might render PHTS patients particularly susceptible to mesothelioma, we strongly recommend PHTS patients to avoid even minimal exposure.

AB - BACKGROUND: The PTEN-hamartoma-tumor-syndrome (PHTS) is caused by germline mutations in Phosphatase and Tensin homolog (PTEN) and predisposes to the development of several typical malignancies. Whereas PTEN mutations have been implicated in the occurrence of malignant mesotheliomas, the genetic landscape of verrucous carcinomas (VC) is largely uncharted. Both VC and malignant peritoneal mesotheliomas (MPM) are exceedingly rare and a potential link between these malignancies and PHTS has never been reported.CASE PRESENTATION: We here describe the clinical course of a PHTS patient who, in addition to a typical thyroid carcinoma at the age of 36 years, developed a highly-differentiated oral VC and an epithelioid MPM six years later. The patient with a history of occupational asbestos exposure underwent cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for MPM. The clinical diagnosis of PHTS was consequently corroborated by a germline PTEN deletion. Sequencing of tumor tissue revealed a second hit in PTEN in the thyroid carcinoma and VC, confirmed by a PTEN loss and activation of the PI3K/AKT pathway in immunohistochemistry. Furthermore, additional somatic mutations in the thyroid carcinoma as well as in the VC were detected, whereas the genetics of MPM remained unrevealing.DISCUSSION AND CONCLUSIONS: We here report the very unusual clinical course of a patient with rare tumors that have a germline mutation first hit in PTEN in common. Since this patient was exposed to asbestos and current evidence suggests molecular mechanisms that might render PHTS patients particularly susceptible to mesothelioma, we strongly recommend PHTS patients to avoid even minimal exposure.

KW - Carcinoma, Verrucous/genetics

KW - Germ-Line Mutation/genetics

KW - Humans

KW - Lung Neoplasms/genetics

KW - Mesothelioma/genetics

KW - Mouth Neoplasms/genetics

KW - PTEN Phosphohydrolase/genetics

KW - Rare Diseases

U2 - 10.1186/s12881-018-0651-4

DO - 10.1186/s12881-018-0651-4

M3 - SCORING: Journal article

C2 - 30111295

VL - 19

SP - 144

JO - BMC MED GENET

JF - BMC MED GENET

SN - 1471-2350

IS - 1

ER -