Skip to main content
. 2011 Dec 29;11(2):225–233. doi: 10.1007/s10689-011-9505-3

Table 2.

Descriptions of retinoblastoma patients with a second primary malignancy according to subcategories of RB1 mutation type

Subject
no.a,b 		Familyc Number of RB patients in the family without second primary malignancy (age at inclusion) Site Mutation descriptiond Protein Laterality First in family Therapy Type of second primary malignancye Second primary malignancy (age at diagnosis)
Nonsense or frameshift mutation
 1 F22 NA Exon 1 g.2121dupC p.Ala22GlyfsX9 Bil Yes RT Epithelial B (59)
 2 F11 1 (37) Exon 2 g.5446G>T p.Glu54X Bil Yes Enucl Epithelial Bl (52)
 3 F12 1 (12) Exon 2 g.5505_5506dup p.Ala74GlufsX4 Bil Yes RT + CH Other (44)
 4 F16 4 (59, 40, 14, 6) Exon 6 g.45855delT p.Leu199TyrfsX2 Bil No RT Osteosarcoma (5)
 5a F31 NA Exon 8 g.59695C>T p.Arg255X Bil Yes RT Osteosarcoma (12)
 6 F17 2 (4f, 29) Exon 8 g.59702_59703dup p.Asn258ArgfsX7 Ul Yes Enucl Epithelial Pa (56)
 7 F17 Exon8 g.59702_59703dup p.Asn258ArgfsX7 Bil No RT Epithelial Bl (51)
 8 F17 Exon8 g.59702_59703dup p.Asn258ArgfsX7 Bil No RT + CH Epithelial L (39)
 9a F4 0 Exon 10 g.64348C>T p.Arg320X Bil Yes Enucl Epithelial C (49)
 10 a F4 Exon 10 g.64348C>T p.Arg320X Bil No RT Melanoma (25)
 11a F5 2 (26, 1f) Exon 11 g.65386C>T p.Arg358X Bil Yes RT + CH Sarcoma LMS (41)
 12 F6 2 (47, 41) Exon 12 g.70261C>T p.Gln383X Ul Yes Enucl Epithelial Bl (62)
 13a F8 3 (26, 11, 49) Exon 14 g.76430C>T p.Arg445X Bil Yes Enucl Epithelial L (65)
 14 a F8 Exon 14 g.76430C>T p.Arg445X Bil No Enucl Melanoma (23)
 15 a F8 Exon 14 g.76430C>T p.Arg445X Bil No RT Melanoma (37)
 16 a F8 Exon 14 g.76430C>T p.Arg445X Bil No RT Melanoma (45)
 17 a F8 Exon 14 g.76430C>T p.Arg445X Bil No RT Melanoma (21)
 18a F23 NA Exon 15 g.76898C>T p.Arg467X Bil No RT + CH Melanoma (28)
 19a F9 1 (54) Exon 17 g.78238C>T p.Arg552X Bil Yes RT Sarcoma LMS (33)
 20 a F9 Exon 17 g.78238C>T p.Arg552X Bil No RT + CH Osteosarcoma (12)
 21a F10 0 Exon 18 g.150037C>T p.Arg579X Ul Yes Missing Other (59)
 22 a F10 Exon 18 g.150037C>T p.Arg579X Bil No RT Melanoma (35)
 23a F24 NA Exon 18 g.150037C>T p.Arg579X Bil No RT Osteosarcoma (10)
 24 F25 NA Exon 19 g.153211T>A p.Tyr606X Bil No RT Melanoma (35)
 25 F13 3 (42f, 70, 51) Exon 20

g.156787_156788

delGC

 p.Thr687ProfsX4 Bil No Enucl Epithelial O (72)
 26 F13 Exon 20

g.156787_156788

delGC

p.Thr687ProfsX4 Ul No Enucl Sarcoma Unknown location (50)
 27 F14 2 (53, 50) Exon 21 g.160832G>T p.Glu737X Ul Yes Enucl Epithelial O (58)
 28 F14 Exon 21 g.160832G>T p.Glu737X Bil No RT Osteosarcoma (20)
 29a F27 NA Exon 23 g.162237C>T p.Arg787X Bil No RT + CH Sarcoma LMS (32)
 30a F28 NA Exon 23 g.162237C>T p.Arg787X Bil No RT Sarcoma Lipo (12)
 31 F26 NA Exon 23 g.162266delC p.Leu797TyrfsX13 Bil No RT + CH Osteosarcoma (26)
Splice mutation
 32 F7 1 (29) Exon 13 g.73869G>A

p.Gln444Gln

exon 13 skipped

 Bil Yes RT Epithelial L (48)
 33 F20 NA Intron 6

g.45867G>A/

IVS6 + 1G>A

 n.i. Bil No RT Epithelial B (57)
 34 F21 NA Intron 14

g.76491G>T/

IVS14 + 5G>T

 n.i. Bil No RT Melanoma (51)
 35 F19 NA Intron 17

g.149997G>A/

IVS17 − 1G>A

 n.i. Bil No RT Sarcoma Rhab (8)
 36 F1 0 Intron 20

g.160729G>C/

IVS20 − 1G>C

 n.i. Bil Yes RT Epithelial Bl (62)
 37 F1 Intron 20

g.160729G>C/

IVS20 − 1G>C

n.i. Bil No RT Sarcoma His (31)
 38 F1 Intron 20

g.160729G>C/

IVS20 − 1G>C

n.i. Bil No RT Epithelial B (43)
Large rearrangements
 39 F15 1 (5) Duplica- tion exon 3 g.39446-?_39561 + ?dup n.i. Ul Yes Enucl Melanoma (31)
 40 F3 2 (45, 9)

Deletion

RB1

c.-138-?_27841 + ?del – Bil No RT Sarcoma Rhab (11)
 41 F2 2 (17, 15) Deletion exon 10/11 Del exon 10 or 10 and 11 n.i. Bil Yes RT Melanoma (31)
 42 F29 NA Deletion exon 3-17 g.39446-?_78279 + ?del n.i. Bil No RT Sarcoma LMS (32)
 43 F30 NA Deletion exon 6-17 g.45799-?_78279 + ?del n.i. Bil No RT Epithelial Seb (38)
 44 F18 2 (68, 42)

Deletion exon

9–27

 g.61730-?_g177078 + ?del n.i. Ul Yes Enucl Epithelial C (57)

RB retinoblastoma, NA not applicable (i.e. sporadic retinoblastoma patient, n.i. not investigated), Bil bilateral disease, Ul unilateral disease, RT radiation therapy, CH chemotherapy, Enucl enucleation

B breast cancer, Bl bladder cancer, Pa pancreatic cancer, L lung cancer, C colon cancer, LMS leiomyosarcoma, O ovarian cancer, Lipo liposarcoma, Rhab rhabdomyosarcoma, His histiocytoma, Seb sebaceous adenocarcinoma

a Carriers of a recurrent stop mutation

b Italicized cases represent family members also affected with a second primary malignancy

c Family numbers 1–18: have more affected family members with RB; family numbers 19–31: sporadic retinoblastoma patients

d Reference sequence GenBank #L11910

e Underlined types of second primary malignancies represent tumours diagnosed inside the field of radiation; defined as tumor in the eye lids, orbits, periocular sinuses, temporal bones, or skin overlying the temporal bone region

f Died of other cause than second primary cancer