Table 2 Gynecological tumors reported in xeroderma pigmentosum patients.

From: Early-onset gynecological tumors in DNA repair-deficient xeroderma pigmentosum group C patients: a case series

Tumor typesa (patient code)

Country of patient’s origin

Age at tumor diagnosis (years)

Age at death (years)

Gene mutation

References

Uterine carcinoma

Japan

49

51

ni

Satoh Ok& Nishigori 198830

Uterine adenocarcinoma (XP1BE)

USA

ni

49

XPC: c.1132_1133 delAA

Khan et al 200631

Cervical sarcoma (XP269VI)

Morocco

18

23

XPC: delTGb

Hadj-Rabia et al 201332

Uterine leiomyosarcoma

Tunisia

19

19

XPC: delTG

Jerbi et al 201633

Uterine leiomyosarcoma

Tunisia

22

29

XPC: delTG

Jerbi et al 201633

Ovarian mature cystic teratoma

China

28

ni

XPC: HZ c.2218_2220delCTC; p.Glu740_740del

HZ c.2257dupC; p.Arg753fs

Tang et al 201834

Serous ovary Carcinoma

Brazil

27

Alive

XPC: delTG

Santiago et al 202035

Uterine rhabdomyosarcomc (XP2004VI)

Algeria

16

22

XPC: delTG

Yurchenko et al 20202

This work

Uterine rhabdomyosarcomc (XP2003VI)

Algeria

16

Alive

XPC: delTG

This work

Ovarian sarcoma (XPElHaVI)d

Morocco

18

22

XPC: delTG

Nikolaev et al 20221

Uterine adenosarcoma (XPElKaVI)d

Morocco

15

Alive

XPC: delTG

Nikolaev et al 20221

Sertoli-Leydig cell tumor (XP2020VI)

Tunisia

11

Alive

XPC: HZ delTG

HZ c.G850T; p.E284X

This work

2 independent ovarian tumors in the same patient: (a) Juvenile granulosa-cell tumor of the ovary (left) (b) Sertoli-Leydig cell tumor (right) (XP694VI)

North Africa

19

Alive

XPC: delTG

This work

Sertoli-Leydig tumor left

Tunisia

27

Alive

ni

Bdioui et al 202136

Sex-cord stromal tumor

Tunisia

7

Dead

ni

Bacha et al 201937

  1. ni not indicated.
  2. aThe tumor types are expressed as exactly reported in the indicated publications.
  3. bdelTG refers to the North-African founder mutation: XPC c.1643_1644delTG; p.Val548AlafsX572.
  4. cMonozygotic twins.
  5. dSisters.