Second cranio-facial malignancies in hereditary retinoblastoma survivors previously treated with radiation therapy: Clinic and radiologic characteristics and survival outcomes

Rodjan, Firazia; Graaf, Pim de; Brisse, H.; Verbeke, Jonathan; Sánchez, Esther; Galluzzi, Paolo; Göricke, Sophia; Maeder, Philippe; Aerts, Isabelle; Dendale, R.; Desjardins, Laurence; Franscesco, Sonia de; Bornfeld, Norbert; Sauerwein, W.; Popović, Maja; Knol, Dirk L.; Moll, Annette C.; Castelijns, Jonas A.

doi:10.1016/j.ejca.2013.01.010

Cited by 35 publications

(24 citation statements)

References 25 publications

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“…In a retrospective study of 44 second or third malignancies after hereditary retinoblastoma from the European Retinoblastoma Imaging Collaboration by Rodjan et al (42), microscopically complete surgical resection of craniofacial malignancies, including 19 cases (43%) of osteosarcoma, was a major prognostic factor. They confirmed significantly better 5-year overall (83%) and event-free survival (80%) rates in patients who had undergone tumor resection with a microscopically negative margin, whereas the corresponding rates were 52 and 47% in patients with incomplete resection (42). Therefore, an early diagnosis of second primary osteosarcoma in the craniofacial region is important to ensure complete resection.…”

Section: Discussionmentioning

confidence: 99%

Second primary osteosarcomas in patients with retinoblastoma

Fujiwara

Numoto

et al. 2015

Jpn. J. Clin. Oncol.

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Objective: Second primary malignancies have become the leading cause of death in retinoblastoma survivors. Although osteosarcoma is the most common second malignancy, little is known about its clinical and therapeutic features. Methods: We retrospectively reviewed a database of patients with retinoblastoma and osteosarcoma occurring as a second malignancy between 1964 and 2010 at the National Cancer Center Hospital of Japan. Results: Among 857 patients with retinoblastoma registered in the database, 10 (1.1%) developed osteosarcoma as a second malignancy. The median age at the onset of retinoblastoma was 3 months, being bilateral in nine patients and unilateral in one. Systemic chemoreduction was performed in three patients and intra-arterial chemotherapy in six; all patients received external beam radiotherapy. The median age at the onset of second primary osteosarcoma was 11.2 years; four were radiation-related and six were located in an extremity. Among five patients treated at our institute, four patients with tumors on an extremity were treated by wide resection with neoadjuvant and adjuvant chemotherapy. Three of these four patients (75%) were good responders to high-dose methotrexate-based multi-agent chemotherapy and survived with no evidence of disease (median follow-up period, 17.3 years). One patient whose temporal bone was affected underwent radiotherapy with chemotherapy but died after local recurrence. Conclusions: The clinical outcomes of second primary osteosarcoma in an extremity occurring in retinoblastoma survivors may be more favorable than those of conventional osteosarcoma. Early diagnosis of radiation-related osteosarcoma arising in the craniofacial region should be made at a stage where complete resection is possible.

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Section: Discussionmentioning

confidence: 99%

Second primary osteosarcomas in patients with retinoblastoma

Fujiwara

Numoto

et al. 2015

Jpn. J. Clin. Oncol.

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“…In addition, surviving hereditary retinoblastoma patients have an increased risk of craniofacial second primary tumor (SPT), such as RMS, particularly following treatment with external beam radiotherapy. RMS is one of the most common types of craniofacial SPT in irradiated hereditary retinoblastoma patients, which develops in specific locations (such as the ethmoid sinus and temporal fossa) (10). HNRMS is commonly confused with other types of rapidly progressive malignant tumors of the head and neck, including lymphoma, nasopharyngeal carcinoma (NPC), primitive neuroectodermal tumors, Langerhans cell histiocytosis, olfactory neuroblastoma (ONB), osteosarcoma and metastasis (1,10–13).…”

Section: Introductionmentioning

confidence: 99%

Computed tomography and magnetic resonance imaging observations of rhabdomyosarcoma in the head and neck

et al. 2014

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Head and neck (HN) rhabdomyosarcoma (RMS) is an aggressive malignancy, which is rarely encountered and is commonly misdiagnosed as another type of tumor. The aim of the present study was to investigate the computed tomography (CT) and magnetic resonance imaging (MRI) features of HNRMS and analyze the correlations between the imaging observations and the pathological subtypes. A total of 10 HNRMS patients (three males and seven females; median age, 16 years) were reviewed retrospectively by only CT (n=1), only MRI (n=2), as well as CT and MRI (n=7). In addition, the clinical data, imaging observations and pathological results were recorded and analyzed. The origins of the 10 HNRMSs (eight embryonal and two alveolar subtypes) included the ethmoid sinus (n=4), maxillary sinus (n=1), orbit (n=3), nasopharynx (n=1) and frontotemporal subcutaneous area (n=1). On the CT and MRI images, the soft-tissue masses exhibited ill-defined borders (n=9), bony destruction (n=10), multi-cavity growth (n=7) and cervical lymph node metastasis (n=2), whereas calcification and hemorrhaging were not identified. On CT, eight of the HNRMSs appeared slightly hypodense (2/8) or isodense (6/8) with homogeneous enhancement (4/4). On T1-weighted images (WI), nine tumors exhibited isointensity (9/9) and on T2WI, six tumors demonstrated homogeneous hyperintensity with homogeneous enhancement on contrast-enhanced (CE)-T1WI. In addition, three embryonal RMSs, which originated from the ethmoid sinus, exhibited heterogeneous hyperintensity on T2WI and nodule-shaped enhancement patterns on CE-T1WI. The results of the present study indicated that MRI may accurately demonstrate the location and extent of HNRMS and that the imaging features of HNRMS may be similar to those of other tumors. However, a tumor exhibiting heterogeneous hyperintensity on T2WI and a nodule-shaped enhancement pattern on CE-T1WI in the ethmoid sinus may present specific MRI features, which clearly indicates the botryoid subtype of embryonal RMS.

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“…Nevertheless, the long‐term survival in the germline group is reduced because of the risk of second primary tumors (SPTs) that occur years after retinoblastoma treatment. Thus, in developed countries, SPTs are the major cause of death in patients with germline retinoblastoma …”

Section: Introductionmentioning

confidence: 99%

“…Histologically, the most commonly reported SPTs are bone osteogenic sarcomas, soft‐tissue sarcomas, melanomas, epithelial tumors, intracranial meningeal, or brain tumors and, more rarely, leukemias and lymphomas . The risk factors for the occurrence of SPTs in the survivors of germline retinoblastoma are not only related to the genetic predisposition.…”

Section: Introductionmentioning

confidence: 99%

Craniofacial second primary tumors in patients with germline retinoblastoma previously treated with external beam radiotherapy: A retrospective institutional analysis

Jiménez

Laé

Tanguy

et al. 2020

Pediatric Blood & Cancer

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Background The long‐term survival of germline retinoblastoma patients is decreased due to the risk of second primary tumors (SPTs) that occur years after the diagnosis of retinoblastoma. This risk is related to genetic predisposition and other factors, such as the treatment of retinoblastoma by external beam radiotherapy (EBRT). Procedure We studied the incidence, risk factors, and prognosis of specific craniofacial SPTs developed within the margins of radiation field in a cohort of 209 patients with germline retinoblastoma treated with EBRT at our institution between 1977 and 2010. Clinical characteristics, survival, incidence, and histology of craniofacial SPTs were recorded. Results Fifty‐three of the 209 patients developed 60 distinct craniofacial SPTs in irradiated field with a median time from EBRT of 16.9 years (4‐35) and a median follow‐up of 24.8 years (5.3‐40). Osteosarcoma (33.3%) and undifferentiated sarcoma (23.3%) were the more prevalent histological entities. Benign tumors (16.7%) also occurred. The cumulative incidence of craniofacial SPTs reached 32.6% at 35 years after EBRT, and the median survival after diagnosis was five years. In our series, irradiation under 12 months of age, bilateral EBRT, or previous treatment of retinoblastoma with chemotherapy did not significantly increase the risk of craniofacial SPTs. Conclusions This work presents a strong argument to avoid EBRT in the management of retinoblastoma and emphasizes the high risk and poor prognosis of specific craniofacial SPTs. This study also points to the question of the need and benefits of special programs for early detection of craniofacial SPTs in survivors of irradiated germline retinoblastoma.

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Second cranio-facial malignancies in hereditary retinoblastoma survivors previously treated with radiation therapy: Clinic and radiologic characteristics and survival outcomes

Cited by 35 publications

References 25 publications

Second primary osteosarcomas in patients with retinoblastoma

Second primary osteosarcomas in patients with retinoblastoma

Computed tomography and magnetic resonance imaging observations of rhabdomyosarcoma in the head and neck

Craniofacial second primary tumors in patients with germline retinoblastoma previously treated with external beam radiotherapy: A retrospective institutional analysis

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