Morphological spectrum and molecular features of somatic malignant transformation in germ cell tumours.
differentiation
germ cell tumours
histopathology
somatic malignancy transformation
teratoma
testicular cancer
Journal
Histopathology
ISSN: 1365-2559
Titre abrégé: Histopathology
Pays: England
ID NLM: 7704136
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
revised:
20
03
2022
received:
31
01
2022
accepted:
16
04
2022
pubmed:
20
4
2022
medline:
22
6
2022
entrez:
19
4
2022
Statut:
ppublish
Résumé
Somatic malignant transformation (SMT) arising in germ cell tumours (GCTs) is an infrequent, but clinically relevant event. There is only limited knowledge on the morphological spectrum of SMT, and the therapeutic management of these patients is poorly defined. In this work we revisit two consecutive case series (n = 756) of GCTs. Clinicopathological data of SMTs arising in GCTs were determined, with a focus on the histopathological spectrum, and molecular aspects were obtained by Fluorescence in situ Hybridization (FISH) and Next Generation Sequencing (NGS). Thirty male patients (28 primary testicular, two primary extragonadal) were included. These patients represent 4% of GCT patients diagnosed at two institutes (University Hospital Zurich and IPO Porto). The most common SMTs were adenocarcinoma (n = 8), embryonic-type neuroectodermal tumours (ENETs, n = 8), and rhabdomyosarcoma (n = 6), but a wide range of challenging morphologies were depicted, including low-grade neuroglial tumour, adenosquamous carcinoma, neuroblastoma, and neuroendocrine carcinoma. SMT was found in 15 primary tumour samples and in 27 metastatic samples of these 30 patients, the latter showing poorer overall survival. Adenocarcinoma occurred only in metastasis postchemotherapy and in one primary retroperitoneal GCT with SMT, but not in GCT of the testis. The 12p gains were identified by FISH in all cases. NGS results were available in six patients. Clinical trials and/or targeted treatments based on the molecular profile of SMT were recommended in four patients. SMT arising in GCTs represent a diagnostic challenge and should be confirmed by a specialized uropathologist. NGS-based treatment recommendations may improve the outcome of these patients.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
84-98Subventions
Organisme : Fundação para a Ciência e a Tecnologia
ID : PTDC/MEC-URO/ 29043/2017
Organisme : Fundação para a Ciência e a Tecnologia
ID : SFRH/BD/132751/2017
Informations de copyright
© 2022 John Wiley & Sons Ltd.
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