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Case Report: Pediatric Hepatic Rhabdomyosarcoma With Maximum Lifetime.

ABSTRACT: Primary intrahepatic rhabdomyosarcoma is an extremely rare malignant tumor. Here, we describe a case of embryonal rhabdomyosarcoma of the liver in a 7-year-old boy without any symptoms. Serologically, the patient showed abnormal levels of serum tumor markers and liver function. Imaging revealed a large mass in the left lobe of the liver and no lesions elsewhere. At first, the patient was misdiagnosed by percutaneous liver biopsy as having clear cell sarcoma. However, the final diagnosis was established to be hepatic embryonal rhabdomyosarcoma based on postoperative histopathology and typical immunohistochemical staining, which was positive for desmin and myogenin. For treatment, the patient received two cycles of preoperative chemotherapy, prophylactic radiotherapy, and 13 cycles of combined postoperative chemotherapy. Routine follow-ups after all treatment conducted by imaging examinations showed no sign of recurrence or metastasis over 13 months, and the patient survives more than 38 months since initial diagnosis. To our knowledge, this patient is the first with hepatic rhabdomyosarcoma to receive neoadjuvant chemotherapy (preoperative chemotherapy) combined with relative comprehensive treatment and achieve a favorable result.

SUBMITTER: Li X

PROVIDER: S-EPMC9051403 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Case Report: Pediatric Hepatic Rhabdomyosarcoma With Maximum Lifetime.

Li Xu X Li Xiang X Yang Dian-Fei DF Li Miao M Xu Hong-Qin HQ Zheng Shuang S Gao Pu-Jun PJ

Frontiers in medicine 20220415

Primary intrahepatic rhabdomyosarcoma is an extremely rare malignant tumor. Here, we describe a case of embryonal rhabdomyosarcoma of the liver in a 7-year-old boy without any symptoms. Serologically, the patient showed abnormal levels of serum tumor markers and liver function. Imaging revealed a large mass in the left lobe of the liver and no lesions elsewhere. At first, the patient was misdiagnosed by percutaneous liver biopsy as having clear cell sarcoma. However, the final diagnosis was esta ...[more]

PMID: 35492339

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Project description:BackgroundEmbryonal rhabdomyosarcoma (ERMS) is a highly aggressive form of soft-tissue sarcoma that predominantly affects children. Due to limited benefits and resistance to therapy, there is an unmet need to explore alternative therapeutic strategies.Case presentationIn this report, we present a rare case of pediatric ERMS located on the right side of the maxillary gingiva. A composite reference guide integrating clinical, radiographic, and histopathologic findings was used for a definitive diagnosis. Targeted next-generation sequencing of tumor biopsy was performed to identify genetic alterations. A 12-year-old female was admitted to the Pediatric Intensive Care Unit (PICU) and underwent a tracheotomy to relieve asphyxiation caused by a 5.5 cm diameter mass compressing the tongue root and pharyngeal cavity. Hematoxylin and eosin staining revealed a hybrid morphology characterized by clusters of round and spindle cells. Further immunohistochemistry assays indicated positive immunoreactivity for desmin, myogenin, and MyoD1. Various genetic alterations were identified, including mutations in GNAS, HRAS, LRP1B, amplification of MDM2 and IGF1R, and two novel IGF1R fusions. Negative PAX-FOXO1 fusion status supported the clinical diagnosis of ERMS. Initial treatment involved standard chemotherapy; however, the tumor persisted in its growth, reaching a maximum volume of 12 cm × 6 cm × 4 cm by the completion of treatment. Subsequent oral administration of anlotinib yielded a significant antitumor response, characterized by substantial tumor necrosis and size reduction. Following the ligation of the tumor pedicle and its removal, the patient developed a stabilized condition and was successfully discharged from PICU.ConclusionsOur study highlights the importance of accurate diagnosis established on multifaceted assessment for the effective treatment of ERMS. We present compelling evidence supporting the clinical use of anlotinib as a promising treatment strategy for pediatric ERMS patients, especially for those resistant to conventional chemotherapy.

Project description:BackgroundFUS-TFCP2 gene fusion is a recently identified and highly distinct molecular subtype of spindle cell/sclerosing rhabdomyosarcoma (RMS), with fewer than 40 cases being reported to date. Due to its low incidence, clinical studies on this subtype are limited. Here, we report a new case of this rare entity to describe and summarize its unique clinical characteristics and treatment process, aiming to emphasize the importance of molecular testing for spindle cell/sclerosing RMS and increase the understanding of this subtype. By summarizing and comparing with previous reports on RMS with the EWSR1/FUS-TFCP2 fusion mutation, we hope to make some new hints for its management.Case descriptionIn this report, we describe a rare case of spindle cell/sclerosing RMS in a 13-year-old boy, who had a massive destructive lesion involving the mandible. Next-generation sequencing of tumor tissue revealing a FUS-TFCP2 fusion. The tumor was extremely aggressive and showed resistance to polychemotherapy, after 4 cycles of multi drug combined chemotherapy, the primary tumor still continued to grow, and suspicious chest metastasis occurred. Even after aggressive total resection of the primary tumor and postoperative chemotherapy, systemic metastasis to the vertebra and chest could not be prevented yet, ultimately with a fatal outcome within 6 months. We additionally summarize 37 cases of RMS with the EWSR1/FUS-TFCP2 fusion mutation reported in the literature. This subtype was found to be almost exclusively primary in bone and histologically showed a common origin of epithelium and muscle. The high aggressiveness made the conventional standard chemoradiotherapy ineffective. Because most tumors of this subtype express ALK protein, ALK inhibitors seem to be a new target for its therapy.ConclusionsSpindle cell/sclerosing RMS with FUS-TFCP2 fusion has its unique clinical characteristics and progression. It shows a marked skeletal predilection and an aggressive clinical course, typically resistant to traditional standard treatments for RMS. Therefore, molecular detection is crucial in managing this subtype. Once the diagnosis is clear, a more aggressive treatment plan is needed. In addition, almost all cases were found to have a positive expression of ALK. So ALK inhibitors can be a choice of targeted therapy.

Dataset Information

Case Report: Pediatric Hepatic Rhabdomyosarcoma With Maximum Lifetime.

Publications

Case Report: Pediatric Hepatic Rhabdomyosarcoma With Maximum Lifetime.

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