Difficulties in diagnosing angiomatoid fibrous histiocytoma of the head and neck region: A case report

Table 1 Timeline

Time	Name of procedure
November 2022	Laboratory examinations
June 2022	CT Siemens Somatom Definition Flash (Siemens Healthcare, Germany) with standard contrast enhanced protocol
July 2022	First MRI (1.5T MR Magnetom Aera Flash; Siemens Healthcare, Germany) with contrast injection protocol
October 2022	FNA
November 2022	CBCT
November 2022	First surgical procedure
January 2023	Second MRI (1.5T MR Magnetom Aera Flash; Siemens Healthcare, Germany) with contrast injection protocol
January 2023	Second surgical procedure

CBCT: Cone beam computed tomography; FNA: Fine-needle aspiration; MRI: Magnetic resonance imaging.

Table 2 Variant with potential therapeutic relevance of gene MRE11

Item	Description
Gene	MRE11 (germline)
Functional category	Splice_region
Variant	c.1867+5G > T;P.?
NAF in germline	0.52
Effect on protein function	Probably inactivating
Therapeutic option for discussion in the MTB	PARP inhibitor
Approved by EMA/FDA	EMA & FDA
Approved for current entity	Po

PARP inhibitor: Inhibitor of the enzyme poly ADP ribose polymerase. MTB: Molecular Tumor Boards; EMA: European Medicines Agency; FDA: Food and Drug Administraction.

Table 3 Relevant therapeutics for gene MRE11

Drug name	Tumor entity	Approval	Approval limited to biomarkers/others	Approval in combination with other drugs
Niraparib, PARP inhibitor	Prostate cancer	EMA	BRCA1, BRCA2	Abiraterone
Olaparib, PARP inhibitor	Fallopian tube carcinoma	EMA	HRD	Bevacizumab
Olaparib, PARP inhibitor	Fallopian tube carcinoma	FDA	HRD	Bevacizumab
Olaparib, PARP inhibitor	Ovarian cancer	EMA	Cancer associated with HRD	Bevacizumab
Olaparib, PARP inhibitor	Ovarian cancer	FDA	HRD	Bevacizumab
Olaparib, PARP inhibitor	Primary peritoneal carcinoma	EMA	Cancer associated with HRD	Bevacizumab
Olaparib, PARP inhibitor	Primary peritoneal carcinoma	FDA	HRD	Bevacizumab
Olaparib, PARP inhibitor	Prostate cancer	EMA	Adult patients, metastatic castraction- resitant cancer, chemotherapy not indicated	Abiraterone, prednisone
Olaparib, PARP inhibitor	Prostate cancer	FDA	BRCA1, BRCA2	Abiraterone, prednisone

BRCA1: Breast cancer type 1 susceptibility protein; BRCA2: Breast cancer type 2 susceptibility protein; HRD: Cancer associated with Homologous Recombination Deficiency.

Table 4 Variants with pharmacogenetic relevance gene UDP glucuronosyltransferase family 1 member A1

Item	Description
Gene	UGT1A1
Functional category	Upstream_gene
Variant	c.-41_-40dupAT;p.?(*28/*28)
Transcript-ID	NM_000463.3
Zygosity in germline	Homozygous
Effect on protein function	Inactivating
Therapeutic option	Topoisomerase inhibitor
Phenotype	Poor metabolizer