Case Reports in Genetics / 2020 / Article / Tab 1

Case Series

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin

Table 1

Cytogenomic abnormalities detected in the nineteen cases.

Case no.GenderAge (years)Tumor classificationKaryotyping resultsaCGH results (NCBI36/hg18)Likely causal/recurrent CNAs

1F29Pleomorphic adenoma46, XX, t (5;8)(p13;q12) [10]NLLIFR-PLAG1 gene fusion
2F52Pleomorphic adenoma, right parotid46, XX, inv (4)(p11;q25) [15]NL
3M44Pleomorphic adenoma, right deep parotid lobe47, XY, +r [10]/46, XY [5]NLLikely r (8) (p12q12.1) of FGFR1-PLAG1 fusion
4F75Plemomorphic adenoma, right parotid46, XX, inv (8) (q12q24) [6]/46, idem, del (6) (q22q25) [7]/46, XX [2]A 29.182 Mb del of 6q23.1-q25.3, and CNAs of 1q, 3q, 11q, 21q, and XpLikely rearrangement with 8q12 (PLAG1), del 6q
5M28Plemomorphic adenoma, left parotid46, XY [18]CNAs of 10q, 17p, 17q and 21qDel 17p (TP53)
6M47Plemomorphic adenoma, right parotid46, XY, ins (12;2)(q13;p25.1p21) [15]CNAs of 2q, 3p, 3q, 16q and 21qLikely rearrangement of 12q13q15 (HMGA2, MDM2)
7F48Basal cell adenoma, left parotid46, XX [15]Gain of 15, a deletion of Xp, and numerous CNAs in multiple chromosomesDel 6q, dup 17p13.1 (TP53)
8F76Warthin's tumor, left parotid46, XX [18]CNAs of 6p, 7p, 7q, 16p, and 18q
9F69Oncocytoma, right parotid47, XX,+7 [5]/46, XX [10]CNAs of 7q, 10q, and 16p+7
10M65Salivary duct carcinoma, right parotid46, XY [18]Loss of Y and CNAs of 4q, 8q, 11q, 15q, and 21qLoss Y
11F49Hodgkin’s lymphoma, right parotid46, XX [18]NL
12M42Merkel cell carcinoma, right parotid46, XY [18]Losses of 3p and 10, gains of 3q and 5p, and CNAs in multiple chromosomes
13M84Squamous cell carcinoma, right parotid46, XY [18]NL
14F84Undifferentiated, parotid61∼66<3n->, XXX, +X, +1, +del (1) (p31), del (1) (q31), i (1) (p10), i (1) (q10),−2, del (2) (p13), del (3) (p13), +4x2, del (4) (q31), add (4) (p15), del (5) (q31), i (6) (p10), del (6) (q21),−7, add (7) (p22), −8, add (9) (p22), −10x2, +11, del (11) (q23) x2, −12, add (12) (p13), add (14) (p11),−15x2, −17, add (17) (p13), −18, −19, add (19) (p13),−21x2, +4∼8mar [cp6]Large deletions of 5q and 6q, and CNAs of 9p, 9q, 10q, 17p, and 18pDel 6q, del 9p (CDKN2A)
15M62Parotid mass, lymphoma46, XY, t (4;7)(q12;q22) [5]/46, XY [10]CNAs of 7p, 7q, 9p, and 10q
16M77Right parotid mass45, X, −Y [3]/46, X, −Y, +7 [3]/46, XY [9]Loss of YLoss Y, +7
17F69Salivary, basal cells vs. adenoid46, XX [15]CNA of 3p
18M80Parotid46, XY [18]CNAs of 8q
19F46Left parotid gland46, XX [18]CNAs of 3p, 6q, 7q, 16q, and 21qDel 6q

NL: normal; CNAs: copy number alterations.

Article of the Year Award: Outstanding research contributions of 2020, as selected by our Chief Editors. Read the winning articles.