Cerebral atypical teratoid rhabdoid tumour arising in a child treated for acute lymphoblastic leukaemia

Abstract

Atypical teratoid rhabdoid tumours (ATRT) are rare, arising typically in childhood. ATRT arising as a secondary tumour in children treated for acute lymphoblastic leukaemia have not been reported so far. We report a case of ATRT in a 17-year-old boy, 11 years after he was treatment for acute lymphoblastic leukaemia with cranial radiation.

Atypical teratoid/rhabdoid tumor arising in a malignant glioma

“…Even though the possibility of sampling bias cannot entirely be ruled out, retained SMARCB1/INI1 expression in the absence of SMARCB1 alterations in the primary tumor of our patient makes this possibility also unlikely and rather suggests secondary loss of SMARCB1/INI1 and transformation to AT/RT. The transformation to AT/RT might be related to therapy: in a few cases secondary malignant rhabdoid tumors have been reported to occur many years following irradiation . The lack of SMARCB1 germline mutation in our patient renders rhabdoid tumor predisposition syndrome 1 (OMIM #609322) implausible.…”

“…The transformation to AT/RT might be related to therapy: in a few cases secondary malignant rhabdoid tumors have been reported to occur many years following irradiation. 12,17,18 The lack of SMARCB1 germline mutation in our patient renders rhabdoid tumor predisposition syndrome 1 (OMIM #609322) implausible. Even though the family history was unremarkable, other genetic lesions predisposing the patient for cancer development cannot entirely be excluded.…”

Radiation-induced malignant rhabdoid tumour of the hypothalamus in an adult: A case report

“…The appearances of rhabdoid tumour in the lung and ileum 20 years after radiation therapy (RT) for Wilms’ tumour have been reported by Litman et al[10], raising the possibilities of radiation-induced rhabdoid tumour. Four adult cases of presumed RT-induced MRT of the CNS have been reported in the literature[1-4]. The clinicopathological and imaging features of these cases and our case are summarised in Table 1, Table 2 and Table 3.…”

“…The average age at the time of previous irradiation was 5.4 years, with a mean total radiation dose of 28 Gy and an average latency period of 23 years (Table 4). Overall prognosis is poorer compared to non-RT-induced MRT in adults, with a mean survival of 12 mo compared to 38 mo in the non-RT-induced group[1-4].…”

“…Malignant rhabdoid tumour (MRT) of the central nervous system (CNS) in adult is very rare, and the literature available consists mainly of case reports or series. Despite the rarity of this disease entity, 4 cases[1-4] of presumed radiation-induced MRT in the brain have been reported to date. We present herein a case of hypothalamic tumour in an adult patient diagnosed with MRT following prophylactic irradiation for acute lymphoblastic leukaemia during childhood.…”