Universität zu Köln

Bochtler, Tilmann, Endris, Volker, Reiling, Anna, Leichsenring, Jonas, Schweiger, Michal R., Klein, Sebastian, Stoegbauer, Fabian, Goeppert, Benjamin ORCID: 0000-0002-4135-9250, Schirmacher, Peter, Kraemer, Alwin and Stenzinger, Albrecht (2018). Integrated Histogenetic Analysis Reveals BAP1-Mutated Epithelioid Mesothelioma in a Patient With Cancer of Unknown Primary. J. Natl. Compr. Cancer Netw., 16 (6). S. 677 - 683. COLD SPRING HARBOR: HARBORSIDE PRESS. ISSN 1540-1413

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Abstract

This case report presents a male patient with epithelioid mesothelioma that was initially misdiagnosed as cancer of unknown primary (CUP) and correctly identified using molecular panel sequencing. The patient had a prior history of colon and breast cancer. To assess the enlarged mediastinal lymph nodes, retrosternal lymphadenectomy was performed in 2016. The lymph nodes were histologically deemed unrelated to the known breast cancer by the reference pathologist, thus leading to the diagnosis of a CUP syndrome. When the patient presented to our center, targeted deep sequencing of both breast cancer and presumed CUP was performed to address the clonal relationship between both malignancies. A missense mutation in BAP1 was revealed in both samples, with coverage data indicating a germline event. The patient was subsequently counseled by a human geneticist and underwent genetic testing, which confirmed the germline nature of this mutation. Collectively, these data led to the diagnosis of BAP1 (BRCA1-associated protein-1) tumor predisposition syndrome (TPDS). With the knowledge of an underlying BAP1 mutation and its known frequent association with epithelioid mesothelioma, the histology was reassessed and the diagnosis was revised to epithelioid mesothelioma. At this point, peritoneal involvement of mesothelioma could be diagnosed and histologically confirmed. This case illustrates the potential of integrated histopathologic and molecular diagnostics in helping to decipher CUP syndromes and establish the correct diagnosis. Additionally, this case highlights typical features of BAP1 TPDS with its general susceptibility to cancers, with pleural and peritoneal mesotheliomas as most prevalent clinical entities and the typically more benign course of these epithelioid mesotheliomas compared with BAP1-unrelated cases of mesotheliomas.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Bochtler, Tilmann UNSPECIFIED UNSPECIFIED UNSPECIFIED Endris, Volker UNSPECIFIED UNSPECIFIED UNSPECIFIED Reiling, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED Leichsenring, Jonas UNSPECIFIED UNSPECIFIED UNSPECIFIED Schweiger, Michal R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Klein, Sebastian UNSPECIFIED UNSPECIFIED UNSPECIFIED Stoegbauer, Fabian UNSPECIFIED UNSPECIFIED UNSPECIFIED Goeppert, Benjamin UNSPECIFIED orcid.org/0000-0002-4135-9250 UNSPECIFIED Schirmacher, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Kraemer, Alwin UNSPECIFIED UNSPECIFIED UNSPECIFIED Stenzinger, Albrecht UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-184831
DOI:	10.6004/jnccn.2018.7012
Journal or Publication Title:	J. Natl. Compr. Cancer Netw.
Volume:	16
Number:	6
Page Range:	S. 677 - 683
Date:	2018
Publisher:	HARBORSIDE PRESS
Place of Publication:	COLD SPRING HARBOR
ISSN:	1540-1413
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GERMLINE BAP1 MUTATIONS; MALIGNANT PLEURAL MESOTHELIOMA; PRIMARY SITE; MELANOMA Multiple languages Oncology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/18483