Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature

Choi, Joonmyung; Soglio, Dorothée Bouron Dal; Fortier, Amanda L.; Fetni, Raouf; Mathonnet, Géraldine; Cournoyer, Sonia; Lallier, Michel; Isler, Marc; Bergeron, Mélanie Beaulieu; Patey, Natalie

doi:10.1111/his.12317

Cited by 18 publications

(7 citation statements)

References 32 publications

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“…Close follow up for minimum of 5 years is recommended. Various studies have not reported any recurrences in completely excised tumors with follow ups of 2 months–10 years and median follow up times ranging from 38 to 42 months [ 11 , 14 , 15 , 19 , 22 , 24 , 25 , 27 , 30 ].…”

Section: Main Textmentioning

confidence: 99%

Lipoblastoma: a clinicopathologic review of 23 cases from a major tertiary care center plus detailed review of literature

et al. 2018

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ObjectiveLipoblastoma is a rare neoplasm that occurs mostly in infants and children. Although benign, it has a tendency for local recurrence.ResultsClinical and pathological features of 23 cases of lipoblastoma described. Patients’ age ranged from 8 months to 18 years with mean and median age 4.1 and 2.5 years, respectively. Male:female ratio was 2.8:1. Most common sites were lower extremities (9 cases), followed by abdominal cavity and retroperitoneum (4 cases), and scrotum/groin (3 cases). Grossly, 22 tumors were well circumscribed and multi nodular. All cases showed lobules composed of adipocytes and lipoblasts with intervening fibrous septa and fine vascular network. Myxoid change, capsule formation and septation were seen in all cases. Zonation was seen in 2 cases. Follow-up was available in 14 out of 23 patients. Of these, 13 were alive and free of disease with no evidence of any recurrent lesion. One patient with a mediastinal infiltrating lipoblastoma experienced 4 recurrences. Lipoblastoma is a benign adipocytic neoplasm of infants and young children. Correlation of clinical and histological features helps in reaching a correct diagnosis. Owing to a high recurrence rate following incomplete resection, a complete resection is essential. Prognosis is excellent after complete resection.Electronic supplementary materialThe online version of this article (10.1186/s13104-018-3153-8) contains supplementary material, which is available to authorized users.

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Section: Main Textmentioning

confidence: 99%

Lipoblastoma: a clinicopathologic review of 23 cases from a major tertiary care center plus detailed review of literature

et al. 2018

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“…Given the importance of the diagnosis of liposarcoma, if doubts persist, it is necessary to perform an immunohistochemical and specific cytogenetic study to confirm the differences. [ 1 4 6 10 22 ]…”

Section: Discussionmentioning

confidence: 99%

“…In contrast, in myxoid liposarcoma, translocation t(12;16) (q13;p11) and FUS-DDIT3 gene fusion are characteristic in 95% of cases. [ 1 11 22 25 ] The presence of p16, useful for the diagnosis of liposarcomas, is highlighted in an immunohistochemical study. [ 25 ] With a well-founded suspected diagnosis, treatment consisting of complete but nonmutilating excision with free margins can be performed.…”

Section: Discussionmentioning

confidence: 99%

Rapidly growing facial tumor in a 5-year-old girl

Fernández-Ferro

López-Betancourt

Santos-Armentia

et al. 2020

Ann Maxillofac Surg

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The aim of this study is to describe the clinical, radiological and histological characteristics that define lipoblastomas with special emphasis on differential diagnosis. The patient is a 5-year-old girl who consulted for a rapidly growing lower cheek tumor. This study analyzes, evaluates, and discusses the issues that need to be addressed throughout the process that affect treatment planning and provides an updated review of these rare head-and-neck tumors.

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“…Approximately, 70 % of lipoblastomas exhibit PLAG1 rearrangement located at 8q12, which can result in the transcriptional upregulation of this oncogene via promoter swapping [ 9 , 10 ]. In addition, lipoblastoma demonstrates polysomy for chromosome 8 with or without PLAG1 rearrangement [ 9 , 10 , 12 , 13 ]. The detection of PLAG1 rearrangement is used to distinguish lipoblastoma from other lipomatous tumors as well as liposarcoma [ 2 , 3 , 7 , 8 , 10 , 13 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

A case of unusual histology of infantile lipoblastoma confirmed by PLAG1 rearrangement

et al. 2015

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Lipoblastoma, a relatively rare benign adipose neoplasm, predominantly affects children younger than 3 years of age. We herein report the case of a 7-month-old girl with an unusual myxomatous histology of lipoblastoma. A rapidly growing mass was detected in the subcutaneous area of the left buttock. Histologically, the tumor consisted of abundant myxoid stroma exhibiting cellular atypia and a high mitotic activity. Although the histological findings were unusual, the tumor was diagnosed as a lipoblastoma according to both PLAG1 immunohistochemistry and the presence of PLAG1 rearrangement on fluorescence in situ hybridization.

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Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature

Cited by 18 publications

References 32 publications

Lipoblastoma: a clinicopathologic review of 23 cases from a major tertiary care center plus detailed review of literature

Lipoblastoma: a clinicopathologic review of 23 cases from a major tertiary care center plus detailed review of literature

Rapidly growing facial tumor in a 5-year-old girl

A case of unusual histology of infantile lipoblastoma confirmed by PLAG1 rearrangement

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