PMC9618631_01
Results of family analysis of TTN gene variation.
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Whole exome sequencing (WES) by next-generation sequencing for this patient and his parents identified that only the patient has a spontaneous likely pathogenic variant in the TTN gene [chr2:179462295 NM_133378(TTN); exon243: c.49810A>T (p.R16604X)] ( Figure 1 ).
PET-CT imaging showing early response following 4 cycles of chemotherapy plus 2 cycles of BV and sustained remission in this patient. (A) PET-CT results for the patient on 11/29/2021; (B) PET-CT results for the patient on 01/26/2022; (C) PET-CT results for the patient on 07/16/2022.
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However, the desired treatment effects were not reached (see  Figure 2A ). However, PET-CT still showed systemic tumor invasion after the first course of chemotherapy ( Figure 2A ). After the fourth cycle of chemotherapy (2 cycles plus BV), the tumor was reduced by over 85% compared with the initial stage of the disease, and the effect was evaluated as complete remission (CR) according to Lugano 2014 Criterion ( Figure 2B ). During the 11-month follow-up, the child was still in complete remission ( Figure 2C ), and LVEF had recovered to 62% ( Figure 3 ).
LVEF (%) changes with treatment.
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During the 11-month follow-up, the child was still in complete remission ( Figure 2C ), and LVEF had recovered to 62% ( Figure 3 ).