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R Sciot - One of the best experts on this subject based on the ideXlab platform.
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Lipoblastoma in adolescents and young adults report of six cases with fish analysis
Histopathology, 2008Co-Authors: N De Saint Aubain Somerhausen, Jeanmichel Coindre, Maria Debiecrychter, J Delplace, R SciotAbstract:Aims: Lipoblastoma is a rare benign adipocytic neoplasm that occurs primarily in infancy and early childhood. Histologically, there is some morphological overlap with atypical lipomatous tumour and myxoid liposarcoma and the age at presentation is often regarded as a major diagnostic criterion. However, we recently encountered several cases of Lipoblastoma occurring in adolescents and young adults. The aim was to document the occurrence of Lipoblastoma in older patients, with cytogenetic confirmation. Methods and results: Six cases of Lipoblastoma in patients >12 years old were identified. The tumours occurred in four male and two female patients ranging from 14 to 24 years old. Our cases showed the classical histological features of Lipoblastoma. Three tumours were composed predominantly of mature adipocytes and the three other cases showed an immature appearance, with a prominent myxoid matrix. Fluorescence in situ hybridization (FISH) demonstrated rearrangements of the PLAG1 region in two cases and polysomy for chromosome 8 in three other cases. None of the tumours had amplification of MDM2 or CDK4. Conclusions: Lipoblastoma occurs rarely in young adults and should enter into the differential diagnosis of 'atypical' fatty tumours in adults. Our report underscores the diagnostic value of FISH analysis. © 2008 The Authors.
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Lipoblastoma in a 23 year old male distinction from atypical lipomatous tumor using cytogenetic and fluorescence in situ hybridization analysis
Virchows Archiv, 2003Co-Authors: R Sciot, Ivo De Wever, Maria DebiecrychterAbstract:Lipoblastoma is a rare benign tumor that occurs primarily in infancy and early childhood. We present the rare presentation of a 12 cm sized intramuscular Lipoblastoma of the thigh in a 23-year-old patient. On histology, the tumor strongly resembled an atypical lipomatous tumor due to the presence of lipoblasts and atypical stromal nuclei. The very focal lobulation and myxoid change presented the only histological hint towards a Lipoblastoma. Cytogenetic and subsequent FISH evaluation of the tumor cells showed a 46,XY, t(8;15) (q12;q25) as chromosomal change with rearrangement of the PLAG1 gene. The present case indicates that Lipoblastoma should enter the differential diagnosis of an 'atypical' deep seated fatty tumor in adults. The diagnostic value of cytogenetic/molecular analysis in the differential diagnosis of lipomatous tumors is underscored as well.
Maria Debiecrychter - One of the best experts on this subject based on the ideXlab platform.
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Lipoblastoma in adolescents and young adults report of six cases with fish analysis
Histopathology, 2008Co-Authors: N De Saint Aubain Somerhausen, Jeanmichel Coindre, Maria Debiecrychter, J Delplace, R SciotAbstract:Aims: Lipoblastoma is a rare benign adipocytic neoplasm that occurs primarily in infancy and early childhood. Histologically, there is some morphological overlap with atypical lipomatous tumour and myxoid liposarcoma and the age at presentation is often regarded as a major diagnostic criterion. However, we recently encountered several cases of Lipoblastoma occurring in adolescents and young adults. The aim was to document the occurrence of Lipoblastoma in older patients, with cytogenetic confirmation. Methods and results: Six cases of Lipoblastoma in patients >12 years old were identified. The tumours occurred in four male and two female patients ranging from 14 to 24 years old. Our cases showed the classical histological features of Lipoblastoma. Three tumours were composed predominantly of mature adipocytes and the three other cases showed an immature appearance, with a prominent myxoid matrix. Fluorescence in situ hybridization (FISH) demonstrated rearrangements of the PLAG1 region in two cases and polysomy for chromosome 8 in three other cases. None of the tumours had amplification of MDM2 or CDK4. Conclusions: Lipoblastoma occurs rarely in young adults and should enter into the differential diagnosis of 'atypical' fatty tumours in adults. Our report underscores the diagnostic value of FISH analysis. © 2008 The Authors.
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Lipoblastoma in a 23 year old male distinction from atypical lipomatous tumor using cytogenetic and fluorescence in situ hybridization analysis
Virchows Archiv, 2003Co-Authors: R Sciot, Ivo De Wever, Maria DebiecrychterAbstract:Lipoblastoma is a rare benign tumor that occurs primarily in infancy and early childhood. We present the rare presentation of a 12 cm sized intramuscular Lipoblastoma of the thigh in a 23-year-old patient. On histology, the tumor strongly resembled an atypical lipomatous tumor due to the presence of lipoblasts and atypical stromal nuclei. The very focal lobulation and myxoid change presented the only histological hint towards a Lipoblastoma. Cytogenetic and subsequent FISH evaluation of the tumor cells showed a 46,XY, t(8;15) (q12;q25) as chromosomal change with rearrangement of the PLAG1 gene. The present case indicates that Lipoblastoma should enter the differential diagnosis of an 'atypical' deep seated fatty tumor in adults. The diagnostic value of cytogenetic/molecular analysis in the differential diagnosis of lipomatous tumors is underscored as well.
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atypical lipomatous tumor in a 14 year old patient distinction from Lipoblastoma using fish analysis
Virchows Archiv, 2002Co-Authors: C Kuhnen, Maria Debiecrychter, Thomas Mentzel, Annette Fisselereckhoff, Raphael SciotAbstract:Liposarcomas are rare in young age. We present the rare case of an atypical lipomatous tumor (synonym: well-differentiated lipoma-like liposarcoma) in a 14-year-old girl with the differential diagnosis of Lipoblastoma which was excluded by fluorescence in situ hybridization (FISH) analysis. The tumor presented as a soft tissue mass at the dorsal part of the right thigh measuring up to 18 cm. Microscopically the lesion consisted of atypical adipocytes with hyperchromatic nuclei and additional multivacuolated lipoblasts. Interphase dual-color FISH performed with chromosome 8 centromeric and YAC164H5 (mapping to exons 2-5 of the PLAG1 gene) probes revealed no rearrangement of PLAG1 oncogene or polysomy of chromosome 8. Additional FISH using an MDM2 gene probe and an BAC534N15 probe (containing sequences specific for the CDK4 gene) showed amplification of the CDK4 gene. These findings indicate that this tumor was no Lipoblastoma but an atypical lipomatous tumor, which is of clinical relevance. In young individuals the distinction between Lipoblastoma and liposarcoma is often impossible by light microscopy alone. This case shows that FISH can serve as a decisive tool in the differential diagnosis of Lipoblastoma and lipoma-like liposarcoma apart from its role in distinction between Lipoblastoma and myxoid/round cell liposarcoma.
Shudong Yang - One of the best experts on this subject based on the ideXlab platform.
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Undifferentiated myxoid Lipoblastoma with PLAG1 gene rearrangement in infant
Pathology research and practice, 2019Co-Authors: Jing Zhou, Lu Wang, Ying Cai, Shudong YangAbstract:Abstract Objectives To analyze the clinicopathologic feature, diagnosis and differential diagnosis of undifferentiated myxoid Lipoblastoma in infant. Methods The study included 2 cases of undifferentiated myxoid Lipoblastoma in infant according to the molecular genetic diagnosis. The relevant clinicopathologic feature was investigated. Results We describe 2 cases of undifferentiated myxoid Lipoblastoma in infant. The both large circumscribed masses are located in deep soft tissue. Unlike most Lipoblastoma, lobulated appearance was not obvious in one case and completely absent in another. The both cases presented prominent myxoid change with a plexiform vascular pattern. There were some spindle-shaped or stellate mesenchymal cells, while no any mature adipocytes. The initial suggestion of case 1 was myxoid liposarcoma, and case 2 was aggressive angiomyxoma. However, few S-100 positive lipoblasts suggested the origin of the tumor. FISH analysis using a PLAG1 break apart probe confirmed a PLAG1 rearrangment. The final diagnosis was undifferentiated myxoid Lipoblastoma. Conclusions The undifferentiated myxoid Lipoblastoma is a very rare tumor in infant. Histologically, prominent myxoid change, a plexiform vascular pattern and lacking of mature adipocytes make it indistinguishable from myxoid liposarcoma, PMMTI and aggressive angiomyxoma. The S-100 positive lipoblasts and genetic rearrangement of PLAG1 helps in confirming the diagnosis. Even if there were no mature adipocytes, myxoid Lipoblastoma was still a diagnosis that can not be ignored in myxoid tumors in children.
Shuich Ozono - One of the best experts on this subject based on the ideXlab platform.
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a large retroperitoneal Lipoblastoma a case report and literature review
Medicine, 2018Co-Authors: Saki Sakamoto, Naoki Hashizume, Suguru Fukahori, Shinji Ishii, Nobuyuki Saikusa, Motomu Yoshida, Daisuke Masui, Naruki Higashidate, Shiori Tsuruhisa, Shuich OzonoAbstract:AbstractIntroduction:Lipoblastoma is a rare benign soft tissue tumor that occurs most commonly in infants and children. However, retroperitoneal Lipoblastomas are rare, occurring in <5% of cases. We report a case of large retroperitoneal Lipoblastoma and the largest collection of known retroperitone
Lu Wang - One of the best experts on this subject based on the ideXlab platform.
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Lipoblastomas presenting in older children and adults: analysis of 22 cases with identification of novel PLAG1 fusion partners
Modern Pathology, 2020Co-Authors: Karen Fritchie, Lu Wang, Zhaohong Yin, Joy Nakitandwe, Dale Hedges, Andrew Horvai, Jorge Torres Mora, Andrew L. Folpe, Armita BahramiAbstract:Lipoblastomas are benign neoplasms of embryonal white fat that typically present in the first 3 years of life and show a lobular arrangement of maturing adipocytes with variable degrees of myxoid change. We systematically studied the clinicopathologic and genetic features of Lipoblastomas arising in older children and adults. Cases with a diagnosis of Lipoblastoma or maturing Lipoblastoma in patients >3 years of age were retrieved from our archives. Immunostaining for CD34 and desmin and molecular studies (FISH, RNA sequencing) were performed. Twenty-two cases (8F; 14M) were identified in patients ranging from 4 to 44 years of age (median 10 years). Sites included extremity ( n = 15), head and neck ( n = 4), and trunk ( n = 3) with tumor sizes varying from 1.6 to 17.5 cm (median 5). Only three tumors had histologic features of “conventional” Lipoblastoma. The majority of tumors ( n = 14) were composed of variably sized lobules of mature adipose tissue partitioned by thin fibrous septa (“maturing”). The remaining five cases consisted predominantly of bland spindled to plump ovoid cells embedded in a fibrous stroma, with a vaguely plexiform arrangement of small myxoid and adipocytic nodules (“fibroblastic”). CD34 was diffusely positive in all cases tested (21/21), while desmin immunoreactivity was identified in 12 of 21 cases (diffuse = 7, focal = 5). PLAG1 rearrangements were identified in 13 tumors in the entire cohort (59%), including all 5 fibroblastic tumors. RNA sequencing detected eight PLAG1 fusion partners, of which two were known ( CHCHD7 and COL3A1 ) and six were novel ( SRSF3, HNRNPC, PCMTD1, YWHAZ, CTDSP2 , and PPP2R2A ). Twelve cases had follow-up (1–107 months; median 21 months), and no recurrences were reported. Lipoblastomas may occur in older children and adults and may be difficult to recognize due to their predominantly adipocytic or fibrous appearance. Awareness that Lipoblastomas may occur in older patients, careful evaluation for foci showing more typical morphologic features, ancillary immunohistochemistry for CD34 and desmin, and molecular genetic studies to identify PLAG1 rearrangements are the keys to recognizing these tumors.
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Undifferentiated myxoid Lipoblastoma with PLAG1 gene rearrangement in infant
Pathology research and practice, 2019Co-Authors: Jing Zhou, Lu Wang, Ying Cai, Shudong YangAbstract:Abstract Objectives To analyze the clinicopathologic feature, diagnosis and differential diagnosis of undifferentiated myxoid Lipoblastoma in infant. Methods The study included 2 cases of undifferentiated myxoid Lipoblastoma in infant according to the molecular genetic diagnosis. The relevant clinicopathologic feature was investigated. Results We describe 2 cases of undifferentiated myxoid Lipoblastoma in infant. The both large circumscribed masses are located in deep soft tissue. Unlike most Lipoblastoma, lobulated appearance was not obvious in one case and completely absent in another. The both cases presented prominent myxoid change with a plexiform vascular pattern. There were some spindle-shaped or stellate mesenchymal cells, while no any mature adipocytes. The initial suggestion of case 1 was myxoid liposarcoma, and case 2 was aggressive angiomyxoma. However, few S-100 positive lipoblasts suggested the origin of the tumor. FISH analysis using a PLAG1 break apart probe confirmed a PLAG1 rearrangment. The final diagnosis was undifferentiated myxoid Lipoblastoma. Conclusions The undifferentiated myxoid Lipoblastoma is a very rare tumor in infant. Histologically, prominent myxoid change, a plexiform vascular pattern and lacking of mature adipocytes make it indistinguishable from myxoid liposarcoma, PMMTI and aggressive angiomyxoma. The S-100 positive lipoblasts and genetic rearrangement of PLAG1 helps in confirming the diagnosis. Even if there were no mature adipocytes, myxoid Lipoblastoma was still a diagnosis that can not be ignored in myxoid tumors in children.