Clinical, genetic and experimental studies of the Brooke–Spiegler (CYLD) skin tumor syndrome

Figures & data

Figure 1. Nucleotide sequence analysis showing a germline two base monoallelic deletion in CYLD exon 11 in two brothers presenting with multiple cutaneous cylindromas on the scalp (white arrowheads). The asterisk indicates a STOP codon predicted to terminate translation. Nucleotides deleted in the wild-type allele are underlined.

Figure 2. Pedigree of the four-generation family with the Brooke–Spiegler (CYLD) skin tumor syndrome.

Table 1. CYLD primers used for PCR amplification and nucleotide sequencing.

Primer	CYLD target	Sequence 5′-3′
Exon 4A_F	Intron 3	TCAGTGTCTTGGAAGCAAACA
Exon 4A_R	Exon 4	AGGAATCCTTGAATGCCCCA
Exon 4B_F	Exon 4	CTACTGGGAAGAGCGGATTT
Exon 4B_R	Intron 4	ACACAGACACACATGAACACA
Exon 5_F	Intron 4	ACCCCTTTTCCTATGGATCGT
Exon 5_R	Intron 5	ACCCCTGTTCTATTTCAATGCTC
Exon 6_F	Intron 5	AGCAAAACCTTATTACTATGGCA
Exon 6_R	Intron 6	GGTGGCAAGGGGTAAAAGAC
Exon 7_F	Intron 6	TCTGTCCTCAAATCCACTGTG
Exon 7_R	Intron 7	CAGAAAGCCAGAGACACACA
Exon 8_F	Intron 7	GCTGAATTGTATTTTGAGAGGGT
Exon 8_R	Intron 8	AGCAAAACACACAAGACCCT
Exon 9_F	Intron 8	TGACTTTTGGGCTGAAAAATATT
Exon 9_F	Intron 9	ACAGCAGTACGGTTCAAACT
Exon 10A_F	Intron 9	AGCGAGAACACTGTTGGAGA
Exon 10B_F	Exon 10	GAACTCACTGACCACCGAGA
Exon 10A_R	Exon 10	AGACCATGTGAGTTCCCAGG
Exon 10B_R	Intron 10	CGGCAAAGGGAAGTCAGAAA
Exon 11_F^a	Intron 10	CGAAGAGGGAGTGGTGAGAA
Exon 11_R^a	Intron 11	ATAAGTCCCAAACGCACGTC
Exon 12_F	Intron 11	AGCAGTTAACCAAAGCCTACT
Exon 12_R	Intron 12	TCCCTTTCAATCCTGACCCA
Exon 13_F	Intron 12	GGGTATCTTCACAGGGGTCC
Exon 13_R	Intron 13	TGTTCTACACCTTGGCCACA
Exon 14_F	Intron 13	AAAATTAGCTGGATGTGGTGGT
Exon 14_R	Intron 14	AGAACCAGCCAGCTTCTTAAA
Exon 15_F	Intron 14	TCAGGAAAACTTGAAAACTGTGC
Exon 15_R	Intron 15	ATGGTACTGTGGCAAGGACA
Exon 16_F	Intron 15	GTTCTCAAATACTGCTGGGACA
Exon 16_R	Intron 16	TGGTGTTTTCTTTGGCAGCA
Exon 17_F	Intron 16	TGAGCCACTTGAAGACTTGT
Exon 17_R	Intron 17	AGAGTCTAACCCACAACTGA
Exon 18_F	Intron 17	TGAAGCCATGAACATTGTCCT
Exon 18_R	Intron 18	CTTTCCAAAACGAGCATTGTGT
Exon 19_F	Intron 18	AACTCCTGACCTCGTGATCC
Exon 19_R	Intron 19	CACATGCAGAAGAAAGGCGT
Exon 20A_F	Intron 19	GTTGGCCCCAGAATCCTTTC
Exon 20A_R	Exon 20	GTGAACAGAACTGCCAGCTC
Exon 20B_F	Exon 20	ACATTCCTCAAGTCACCCCA
Exon 20B_R	3′-UTR	ACTTCAGGGACACAAAAGCA

^a Primers detecting the c.1613_1614delGC mutation.

Figure 3. Growth characteristics and morphology of patient-derived primary cylindroma xenografts (PDXs). (A) Growth curves of three cylindroma PDXs. (B) Hematoxylin and Eosin (HE), MYB and NTRK3 immunostainings in primary cylindromas and PDX tumors. PT 1: primary tumor 1; PDX 1: PDX from primary tumor 1; PT 2: primary tumor 2; PDX 2: PDX from primary tumor 2; PDX 3 (panel A): PDX from primary tumor 2. Scale bars indicate 50 µm.