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Título

Embryonal tumor with multilayered rosettes, C19MC-altered (EMTR): report of two cases with SALL4 expression and one whole exome and targeted childhood panel sequencing

Resumo

Introduction: The Classification of Tumors of the Central Nervous System integrated three different tumors, ependymoblastoma, medulloepitelioma and embryonal tumor with abundant neuropil and true rosettes (ETANTR), in a single clinicopathological type designated as embryonal tumor with multilayered rosettes, C19MC-altered (ETMR).
Case 1 - A 1-year-old girl (23 months) was referred to our service after prior surgery in March 2019 (ventriculoperitoneal shunt and partial resection). Head MRI identified a solid midline lesion with expansive growth on the posterior fossa, obliterating the fourth ventricle and expanding to the pineal region. In addition, it demonstrated hypointensity in T1 and hyperintensity in T2, high DWI signal, and focal contrast enhancement, measuring 6,8 cm. She underwent two neurosurgeries the following week with subtotal resection. Case 2 - A 2-year-old boy (32 months) entered our service in March 2021 with weakness in lower members initiated a month ago. Physical exam demonstrated paresthesia and hypotrophy on his left leg. After a severe outbreak, he was transferred to an intensive therapy unit. Neuroaxis MRI revealed a demarcated solid mass in the right paracentral lobule, with hypointensity in T1 and iso/hyperintensity in T2, high DWI signal, and low contrast enhancement, measuring 2,6 cm. Histopathology showed a biphasic primitive tumor with abundant neuropil areas and neuroblastic cell differentiation.
Intervention: Case 1 After the surgeries, she maintained lethargy and liquid dysphagia. Neuroaxis MRI stated disease progression by the end of April 2019. Then, she started chemotherapy, besides beginning radiotherapy, with 36 Gy through neuroaxis and a 54 Gy boost on the primary lesion during the following month. Case 2 Adjuvant radiation therapy started in May until June. Thirty sessions of 180 cGy through neuroaxis with a boost on the tumor bed, (total: 54 Gy). The high-risk Headstart 3 chemotherapy protocol started in July. The patient performed two cycles to date, with two solved neutropenic fever episodes. There is no clinical or radiological signal of progression - a total six-month disease-free survival.
Conclusion: It happened the presentation embryonal tumor with multilayered rosettes, C19MC-altered.