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Table 3 The molecular and clinical characteristics of the carriers of DNA repair genes alterations

From: The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

Patient ID

Identified variant/gene

Metastases

Histologic subtype

Molecular subgroup

Treatment Protocol

Statusa

Rare adverse events grade 4 on chemotherapy

Drug in the regimen during the incidence of rare adverse events grade 4

The course of chemotherapy

1.

p.V606I/MSH2

YES

classic

4

HR

ADF

NO

-

-

2.

p.A733T/MSH2

YES

LCA

Non-WNT/SHH (3 or 4)

For relapse

DoD

Pneumonia

Irinotecan, Dacarbazine

pre-irradiation chemotherapy

3.

p.R1093* /RAD50

NO

classic

3

HR

ADF

Central nervous system toxicity

Etoposide, Ifosphamide, Cisplatin

pre-irradiation fourth course of chemotherapy

4.

p.Lys219fs*19/NBN

YES

classic

4

HR

ADF

no data

-

-

5. b

p.Lys219fs*19/NBN

NO

classic

WNT

HR

ADF

NO

-

-

6. b

p.Lys219fs*19/NBN

YES

classic

no data

<3 yrs

DoD

Pneumonia

Vincristin, Etoposide, Cisplatin

first course of chemotherapy

7.

p.Lys219fs*19/NBN

YES

LCA

4

HR

DoD

NO but secondary AML M5 4 yrs. after diagnosis

-

-

8. b

p.Lys219fs*19/NBN

NO

classic

Non-WNT/SHH (3 or 4)

SR

ADF

NO

-

-

9.

p.Lys219fs*19/NBN

NO

classic

4

HR

DoD

NO

-

-

10.

p.I171V/NBN

YES

classic

4

HR

ADF

NO

-

-

11.

p.I171V/NBN

NO

classic

no data

<3 yrs

DoD

Central nervous system toxicity

Vincristin, Etoposide, Endoksane, Cisplatin

after two courses of chemotherapy

12. b

p.I171V/NBN

YES

classic

no data

HR

DoD

Colitis with gastrointestinal bleeding/

Vincristin, Etoposide, Carboplatin

pre-irradiation first course of chemotherapy

13.

p.I171V/NBN

NO

classic

4

HR

ADF

NO

-

-

14.

p.L694*/FANCM

YES

LCA

4

HR

ADF

Central nervous system toxicity

Vincristine, Cisplatin, Lomustin

post radiation chemotherapy

15.

p.R695C/ERCC2

NO

classic

Non-WNT/SHH (3 or 4)

SR

ADF

Colitis with gastrointestinal bleeding/

Vincristine, Etoposide, Carboplatin

pre-irradiation first course of chemotherapy

16

p.V738L/EXO1

NO

classic

4

SR

ADF

Enterocolitis

Vincristine, Etoposide, Carboplatin

pre-irradiation first course of chemotherapy

  1. Abbreviations: *ADF alive disease free, DoD died of disease, bpatients reported previously [19] clinical data updated;
  2. HR- PPNG High Risk protocol, SR- PPNG Standard Risk protocol (Additional file 2: Figure S1A), <3 yrs. – PPNG protocol for children younger than 3 years old (Additional file 2: Figure S1B); LCA - large cell/anaplastic