Synapse - The clinical behavior and genomic features of the so-called adenoid cystic carcinomas of the solid variant with basaloid features

The clinical behavior and genomic features of the so-called adenoid cystic carcinomas of the solid variant with basaloid features Journal Article

Authors:	Schwartz, C. J.; Brogi, E.; Marra, A.; Da Cruz Paula, A. F.; Nanjangud, G. J.; da Silva, E. M.; Patil, S.; Shah, S.; Ventura, K.; Razavi, P.; Norton, L.; D’alfonso, T.; Weigelt, B.; Pareja, F.; Reis-Filho, J. S.; Wen, H. Y.
Article Title:	The clinical behavior and genomic features of the so-called adenoid cystic carcinomas of the solid variant with basaloid features
Abstract:	Classic adenoid cystic carcinomas (C-AdCCs) of the breast are rare, relatively indolent forms of triple negative cancers, characterized by recurrent MYB or MYBL1 genetic alterations. Solid and basaloid adenoid cystic carcinoma (SB-AdCC) is considered a rare variant of AdCC yet to be fully characterized. Here, we sought to determine the clinical behavior and repertoire of genetic alterations of SB-AdCCs. Clinicopathologic data were collected on a cohort of 104 breast AdCCs (75 C-AdCCs and 29 SB-AdCCs). MYB expression was assessed by immunohistochemistry and MYB-NFIB and MYBL1 gene rearrangements were investigated by fluorescent in-situ hybridization. AdCCs lacking MYB/MYBL1 rearrangements were subjected to RNA-sequencing. Targeted sequencing data were available for 9 cases. The invasive disease-free survival (IDFS) and overall survival (OS) were assessed in C-AdCC and SB-AdCC. SB-AdCCs have higher histologic grade, and more frequent nodal and distant metastases than C-AdCCs. MYB/MYBL1 rearrangements were significantly less frequent in SB-AdCC than C-AdCC (3/14, 21% vs 17/20, 85% P < 0.05), despite the frequent MYB expression (9/14, 64%). In SB-AdCCs lacking MYB rearrangements, CREBBP, KMT2C, and NOTCH1 alterations were observed in 2 of 4 cases. SB-AdCCs displayed a shorter IDFS than C-AdCCs (46.5 vs 151.8 months, respectively, P < 0.001), independent of stage. In summary, SB-AdCCs are a molecularly heterogeneous but clinically aggressive group of tumors. Less than 25% of SB-AdCCs display the genomic features of C-AdCC. Defining whether these tumors represent a single entity or a collection of different cancer types with a similar basaloid histologic appearance is warranted. © 2021, The Author(s), under exclusive licence to United States & Canadian Academy of Pathology.
Keywords:	immunohistochemistry; adult; controlled study; human tissue; protein expression; aged; major clinical study; overall survival; clinical feature; disease free survival; cancer staging; follow up; lymph node metastasis; antineoplastic agent; cancer grading; tumor volume; epidermal growth factor receptor 2; cohort analysis; retrospective study; distant metastasis; electronic medical record; fluorescence in situ hybridization; gene rearrangement; adjuvant chemotherapy; breast carcinoma; fusion gene; estrogen receptor; progesterone receptor; adenoid cystic carcinoma; adjuvant radiotherapy; clinical outcome; protein myb; lymph vessel metastasis; human; female; article; rna sequencing; adenoid cystic carcinoma of the breast
Journal Title:	Modern Pathology
Volume:	35
Issue:	2
ISSN:	0893-3952
Publisher:	Nature Research
Date Published:	2022-02-01
Start Page:	193
End Page:	201
Language:	English
DOI:	10.1038/s41379-021-00931-6
PUBMED:	34599282
PROVIDER:	scopus
PMCID:	PMC9197148
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85116356245&doi=10.1038%2fs41379-021-00931-6&partnerID=40&md5=9d17f33dc2af7eadaf89961e8cbb8e17
Notes:	Article -- Export Date: 1 March 2022 -- Source: Scopus