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. 2024 Mar 26;14:1364199. doi: 10.3389/fonc.2024.1364199

Table 1.

Summary of clinical histories.

Medulloblastoma Germline studies Age at Dx Treatment 2nd cancer Treatment 3rd cancer Treatment Outcome, time after MB, age
1 Desmoplastic/nodular MB (standard risk)

Pathology:
Non-amplified MCYN
TP53 wildtype
SHH-MB
De novo TP53 pathologic variant from buccal swab

Parents tested
8y Packer’s protocol (Lomustine, vincristine, cisplatin)

CSI (23.4Gy) + tumor bed boost (30.6Gy) Total 54 Gys
Myelodysplastic neoplasm with biallelic TP53 inactivation, germline TP53 LP variant, post cytotoxic therapy (Dicentric chromosome 5, 17)

MB: no evidence of recurrence

17 months from MB
Azacitidine (2 courses)
Haploidentical HSCT 4 courses

Conditioning regimen:
 • Alemtuzumab 0.6mg/kg
 • Fludarabine 150mg/m2
 • Thiotepa 10mg/kg
 • Melphalan 140mg/m2
T-LBL, stage III

MB: no evidence of recurrence

45 months from MB
Methotrexate, asparaginase, vincristine, daunorubicin Died from T-LBL (3rd cancer)

48 months from diagnosis

12y
2 Focal anaplastic features

Pathology:
Non-amplified MYCN
TP53 mutant
SHH-MB
TP53 pathologic variant from EDTA blood

Parents not tested
9y Packer’s protocol (Lomustine, vincristine, cisplatin)
Withheld at cycle 7 due to PRES

CSI (36Gy cranial + 36Gy spinal)
Myelodysplastic neoplasm with biallelic TP53 inactivation, germline TP53 LP variant, post cytotoxic therapy (5q loss, monosomy 7, trisomy 8, 17p loss)

MB: no evidence of recurrence

33 months from MB
Double cord blood transplantation

Conditioning regimen:
 • Cyclophosphamide 120mg/kg
 • Busulfan dose 12.8 mg/kg
 • Antithymocyte globulin 5mg/kg
 • Melphalan 140mg/m2
Died from complication of HSCT

43 months from diagnosis

13y
3 Classic medulloblastoma

Pathology: Non-amplified MYCN
Group 3

46 months:
Recurrent anaplastic medulloblastoma

Variant allele 47.8%, for MUTYH protein, unknown significance
TP53 mutation not reported from EDTA blood

Parents not tested
5y 1. HKPHOSG PNET-CNS-2000 protocol

Cisplatin, vincristine, lomustine

Proton Stereotactic Body Radiation Therapy (23.4Gy) and tumor bed boost (1-1.5cm margin). Total 54 Gys

2. MEMMAT protocol
Bevacizumab, thalidomide, celecoxib, fenofibrate (oral)
Etoposide, cyclophosphamide (systemic)
Etoposide, cytarabine (intraventricular)

SBRT of recurrent lesions in left frontal region (54Gy)

CAR-T cell therapy anti-GD2
Acute myeloid leukemia, myelodysplasia-related, post cytotoxic therapy (Monosomy 7)

MB: disease progression with BM involvement

65 months from MB (18 months from relapse)
Azacitidine, venetoclax (1 course) Died from complications of medulloblastoma and MDS

69 months from diagnosis

11y