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Lipoblastoma is a benign tumour derived from embryonic white fat and is more commonly seen in children. Spinal involvement is rare, with only 14 cases reported to date. We report a case of a 7-year-old boy who was presented with an asymptomatic right neck swelling for 5 years. Clinical examination revealed a soft multilobulated mass causing tracheal deviation with normal neurological examination. Ultrasound, Computed tomography and Magnetic resonance imaging showed a lipomatous lesion with extension to spinal foramina at C3-C5 causing displacement of the spinal cord. Near total excision of the tumour was done with a small remnant left behind at C3-C4 as it was tightly adhered to the vertebral artery. Histopathological samples were consistent with lipoblastoma. The patient developed ipsilateral ptosis and pupillary myosis which improved on the second-month postoperative review; no other neurological deficit was noted, and a follow-up cervical MRI showed no recurrence. [ABSTRACT FROM AUTHOR]

Lipoblastoma is a benign soft tissue tumor that originates from embryonic white fat. Lipoblastoma presents as a slow-growing mass that commonly occurs in the extremities of young children. Histological examination remains the gold standard in confirming lipoblastoma; however, radiology examination can help identify and evaluate the extent and characterization of the mass prior to the excision. Here, we report a 7-year-old male patient who presented with a painless mass in the right popliteal extending to the proximal cruris areas, and the imaging modalities suggested the presence of fat within the mass. The patient then underwent complete excision, and histopathology examination revealed lipoblastoma. This study highlights the possibility of lipoblastoma in older children and the role of imaging examinations in the diagnosis.

We report the case of a 9-month-old female infant who presented with a history of enlarging chest wall mass secondary to a lipoblastoma with intrathoracic extension. The baby was successfully treated with a surgical resection. Chest wall lipoblastomas with intrathoracic extension are quite uncommon, with few reports available to date.

Atypical lipomatous tumors (ALTs) are locally aggressive adipocytic malignancies that frequently occur in middle-aged adults. We report the rare case of an ALT of the thigh that occurred in a 4-year-old girl. Since the tumor was initially diagnosed as a lipoblastoma by incisional biopsy, marginal resection was performed. Histopathological findings of the surgical specimen revealed the proliferation of mature and variously sized adipocytes, as well as ectopic ossification; these features differ from the typical findings of lipoblastoma. Immunohistochemical findings showed nuclear positivity for a murine double minute 2 (MDM2) and cyclin-dependent kinase 4 (CDK4) and negativity for pleomorphic adenoma gene 1 (PLAG1). Fluorescence in situ hybridization showed abnormal amplification of the MDM2 gene. The patient was thus finally diagnosed as having an ALT. No signs of local recurrence or metastasis were noted 1 year postoperatively. This case is instructive in the differential diagnosis of primary adipocytic tumors. Lipoblastomas are the most common adipocytic tumors in children, but if a tumor is located in the deep tissue or imaging findings are not typical, the possibility of ALT should be considered and immunohistochemistry for MDM2 and CDK4 should be added. [ABSTRACT FROM AUTHOR]

Introduction: Lipoblastoma is a benign tumor derived from embryonic adipose tissue, accounting for 5 to 30 percent of soft tissue tumors in children. This study presents a case of a rapidly growing thigh mass in a 16-month-old child, for whom diagnosis based solely on serial clinical examinations proved challenging. Case Presentation: A 16-month-old girl presented with a lump at the posterior aspect of her left knee. Due to the rare nature of the tumor, diagnosis was delayed. Although serial clinical examinations showed no change in size, subsequent imaging revealed rapid growth, leading to a definitive diagnosis. Conclusion: In cases of fast-growing masses in children, particularly those with prominent adipose tissue imaging findings, it is crucial to consider lipoblastoma in the differential diagnosis. Advanced imaging methods should be recommended for monitoring, as serial examinations lack sufficient sensitivity in lipoblastoma follow-up. Our study underscores the limitations of serial examinations in lipoblastoma cases. Accurate diagnosis requires a combination of imaging studies and clinical evaluation. Once a definitive diagnosis is confirmed, prompt surgical removal of the tumor is advisable. [ABSTRACT FROM AUTHOR]

Copyright of Revista Española de Cirugía Oral y Maxilofacial is the property of Sociedad Espanola de Cirugia Oral y Maxilofacial (SECOM) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Lipoblastoma is a rare benign tumour which originates from embryonic fat tissue mainly affecting children below 3 years of age and is exceptionally rare in the thoracic cavity. Preoperative imaging is used to assess the extent of disease and aid surgical planning but definitive diagnosis is usually by histopathological examination. Complete surgical excision is the treatment of choice. Because of the tendency for these lesions to recur, regular follow-up is mandatory even with presumed complete excision. In this study, we report the case of a 3-year-old boy who presented with a huge intrathoracic tumour occupying the whole of the left hemithorax. A complete resection of the tumour was undertaken, with histopathology report confirming the diagnosis of lipoblastoma. The relevant literature review was done. At 6 months of follow-up, there was no recurrent tumour on imaging and the child was thriving well. [ABSTRACT FROM AUTHOR]

Lipoblastoma in children is not an unheard entity. It is normally a benign mass seen in extremities and rarely involves deeper structures. Its complete excision is warranted to alleviate the symptoms and avoid future recurrence. We report an unusual case of huge lipoblastoma engulfing Hunter's canal in a 3 years' male child.

Introduction: The incidence of lipoblastoma is low, with fetal occurrences being even rarer. There are very few prenatal reports about lipoblastoma. We present a case report of fetal perineal lipoblastoma, which was confirmed by pathology after birth. Case presentation: In this case, the combination of three-dimensional(3D) ultrasound greatly improved the diagnostic accuracy by determining the location and shape of the mass. Combining 3D ultrasound imaging with specific ultrasound characteristics related to different masses significantly enhances diagnostic accuracy for lipoblastomas during prenatal examinations. Conclusion: This case report provides valuable insights for prenatal diagnosis and counseling of lipoblastoma.

Introduction: Lipoblastoma is a rare benign mesenchymal tumor of embryonic fat that occurs almost exclusively in infants and children. It accounts for less than 1% of childhood neoplasms and is found in slightly higher frequency in males compared to females. Lipoblastomas most commonly occur in the extremities and show variable rates of growth. Surgical excision is the treatment of choice and has an excellent prognosis although recurrences are possible. Case presentation: We report two cases of lower extremity lipoblastoma at 7 and 8 years of age. Both patients presented with a slow-growing painless mass over the thigh with no limitation in the range of motion of the joints of the affected limb. Plain films showed well-demarcated soft tissue masses. Cytological examination was suggestive of lipoblastoma which was later confirmed by histopathology examination. Complete surgical excision with meticulous dissection and preservation of vital neurovascular structures was done in both cases. No recurrence has been observed after 5 years of follow-up. Conclusion: Lipoblastomas should be considered as a possible diagnosis in older children presenting with a solid slow-growing soft tissue mass.

Introduction: Lipoblastoma is a rare benign tumor originating from embryonic fat cells that occurs mostly within the first 3 years of life. It predominantly involves the subcutaneous tissue of the trunk and the extremities. However, in rare cases it can occur in other sites and the presentation can be the result of mass effect exerted on adjacent structures. Case presentation: We present 2 cases of lipoblastoma, both occurring in uncommon locations (retroperitoneum, neck) and exerting life-threatening mass effect. Both patients underwent complete surgical excision of the mass with preservation of vital structures and the final diagnosis was made by histopathology. The two patients were alive and doing well on follow up after surgery. Conclusion: Variability in presentation, anatomic locations, and patient characteristics necessitate a comprehensive understanding of lipoblastoma along with other entities that can mimic its presentation. The 2 cases of lipoblastoma presented in this case series, highlight the complexities related to diagnosing and managing lipoblastoma especially when occurring at unusual places and exerting a critical mass effect on vital structures.

Background: Lipoblastomas (LPBs) are benign adipocytic neoplasms believed to recapitulate the development of embryonal fat. Methods: We investigated the clinicopathologic and immunohistochemical features of 20 lipoblastomas arising in the head and neck in 18 patients. Results: Patients included 6 males and 12 females (1:2 ratio) with age at diagnosis ranging from 4 months to 28 years. Tumors occurred more commonly in the neck (12, 66.7%) and less commonly in the forehead, scalp, and tongue (2, 11.1%). Tumor size ranged from 1.4 to 6.0 cm (median 5.0 cm). Two patients, a 4-month-old female and 3-year-old male, had local recurrence of neck tumors at 4 months and 3 years after excision, respectively. Microscopically, tumors had a lobulated growth pattern and consisted of adipocytes at varying stages of differentiation. In addition to the classical histologic features, lipoma-like and myxoid variants constituted 45% of cases. Metaplastic elements, including brown fat and cartilage, were identified in two cases. Conclusions: LPBs arising in the head and neck region are not uncommon and occurred at a rate of 9% in our cohort. They should be kept in the differential diagnosis when a fatty tumor is encountered in an older child or occurring at an unusual location. [ABSTRACT FROM AUTHOR]

Copyright of Revista Pediatría de Atención Primaria is the property of LUA Ediciones 3.0 S.L. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Lipoblastoma and lipoblastomatosis are rare benign mesenchymal adipose tumors that originate from embryonic white adipocytes and occur most commonly in infancy and early childhood. Lipoblastomas occur in the extremities and trunk, including the retroperitoneum and peritoneal cavity. Therefore, infiltration into the spinal canal has rarely been reported. Case Presentation: A 4-year-old girl presented to our clinic because of difficulty sitting on the floor with her legs straight. She also complained of enuresis and constipation for the past 6 months with persistent headaches and back pain evoked by body anteflexion. A magnetic resonance imaging revealed a massive lesion of the psoas major muscle, retroperitoneal, and subcutaneous spaces, extending into the spinal epidural space between L2 and S1. The patient underwent surgery which resulted in gross total removal of the tumor from the spinal canal. The mass was yellowish, soft, lobulated, fatty, and easily removed from the surrounding structures. Pathology confirmed the diagnosis of lipoblastoma. The postoperative course was uneventful, and the patient was discharged without any signs of neurological deficit. Conclusion: We herein discuss a rare case of lipoblastoma extending into the spinal canal, resulting in neurological symptoms. Although this tumor is benign with no potential for metastasis, it is prone to local recurrence. Therefore, close postoperative observation should be performed. [ABSTRACT FROM AUTHOR]

Introduction: Lipoblastoma is a rare soft tissue tumour that occurs predominantly in infants and children. They are slow growing and occur intra-abdominally only ∼10% of the time. Due to their benign nature and slow progression, intra-abdominal lipoblastomas have been described to produce few symptoms. Case Presentation: A three-year-old male was referred with a large asymptomatic abdominal mass, incidentally noted by their GP. His abdomen was obviously distended but soft. Laboratory investigations were within reference ranges for his age. CT imaging found a large abdominal mass thought to arise from the retroperitoneum. The mass was excised via exploratory laparotomy, weighing 1.736kg. Histopathological assessment supported the diagnosis of lipoblastoma. Conclusion: Surgical removal allows for a definitive diagnosis of lipoblastoma to be made. It is important to differentiate lipoblastomas from simple lipomas or myxoid liposarcomas due to the varying clinical management and surveillance requirements. Considering this child and earlier cases described in the limited literature, we propose that knowledge of, and clinical assessment for lipoblastoma is important to allow for timely investigation and appropriate management.

Background/Aim: Structural abnormalities of chromosome bands 8q11-13, resulting in rearrangement of the pleomorphic adenoma gene 1 (PLAG1), are known to characterize lipoblastoma, a benign fat cell tumor, found mainly in children. Here, we describe 8q11-13 rearrangements and their molecular consequences on PLAG1 in 7 lipomatous tumors in adults. Materials and Methods: The patients were 5 males and 2 females between 23 and 62 years old. The tumors, namely five lipomas, one fibrolipoma and one spindle cell lipoma, were examined using G-banding with karyotyping, fluorescence in situ hybridization (FISH; three tumors), RNA sequencing, reverse transcription (RT) PCR, and Sanger sequencing analyses (two tumors). Results: All 7 tumors had karyotypic aberrations which included rearrangements of chromosome bands 8q11-13 (the criterion for selection into this study). FISH analyses with a PLAG1 break apart probe showed abnormal hybridization signals in both interphase nuclei and on metaphase spreads indicating PLAG1 rearrangement. RNA sequencing detected fusion between exon 1 of heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1) and exon 2 or 3 of PLAG1 in a lipoma and fusion between exon 2 of syndecan binding protein (SDCBP) and exon 2 or 3 of PLAG1 in a spindle cell lipoma. The HNRNPA2B1::PLAG1 and SDCBP::PLAG1 fusion transcripts were confirmed using RTPCR/Sanger sequencing analyses. Conclusion: As 8q11-13 aberrations/PLAG1-rearrangements/PLAG1-chimeras may evidently be a defining pathogenetic feature of lipogenic neoplasms of several histological types and not just lipoblastomas, we suggest that the term “8q11-13/PLAG1- rearranged lipomatous tumors” be generally adopted for this tumor subset. [ABSTRACT FROM AUTHOR]

Objetivo: El lipoblastoma es una neoplasia benigna poco común que puede presentarse como un tumor localizado o difuso (lipoblastomatosis). Debido a su rareza, se han publicado, en su mayoría, solo reportes de casos. El objetivo de este estudio fue determinar la tasa de recurrencia local y las complicaciones después de la resección marginal de lipoblastomas ubicados en extremidades y tronco. Materiales y Métodos: Se realizó una revisión retrospectiva multicéntrica de los registros de pacientes pediátricos sometidos a extirpación quirúrgica de lipoblastomas en cuatro instituciones, entre 2008 y 2018. Se registraron las siguientes variables: datos demográficos, método diagnóstico, volumen de la lesión, tipo de biopsia, complicaciones, recurrencia y necesidad de procedimientos adicionales. Resultados: Durante el período de estudio, 17 pacientes cumplieron los criterios de inclusión para la evaluación. La media de la edad fue de 3.9 años y el 65% eran varones. Las ubicaciones más frecuentes fueron: muslos (n = 9), columna lumbar (n = 2) y glúteos (n = 2). El volumen de masa preoperatorio medio fue de 305,5 cm3 (rango: 10,2-1745,8). La duración media del seguimiento fue de 2.8 años (rango: de 8 meses a 5.6 años). Hubo una recurrencia (5,9%) y una cicatriz retraída en el área glútea como complicación. Ninguno requirió una nueva intervención. Conclusión: La resección quirúrgica marginal de lipoblastomas localizados en el dorso o las extremidades genera una baja tasa de recurrencia a los 2.8 años de seguimiento y mínimas complicaciones.

Purpose: To describe demographic, clinical, diagnostic and therapeutic aspects of pediatric patients with benign adipocytic tumors admitted to a high complexity teaching hospital from 2007 to 2021. Methods: Retrospective observational descriptive study. Patient information was retrieved from clinical records. A descriptive analysis was carried out for qualitative data and frequencies were calculated for quantitative data. Results: 76 patients were included with a mean age of 7.5 years old where 60.5% were boys. The main symptom was a mass (73.7%) mostly found in the lower limbs (23.6%). Congenital birth defects were identified in 48.6% of the cases. Preoperative imaging was available in 78.9% of the patients allowing characterization of lesions or differential diagnosis. The therapeutic goal was resection with negative margins, which was feasible in all cases except for one case. The histopathological diagnosis was lipoma in 68.4% of the cases followed by lipoblastoma in 13.1%. The mean follow-up period was 17.9 months. 79.7% of the patients were asymptomatic at their last out-patient visit. Conclusion: Benign adipocytic tumors constitute a wide spectrum of lesions, which involve diverse anatomic segments from the neural axis to the inguinoscrotal region. The present work contributes to the general understanding of the clinical presentation and differential diagnosis for these infrequent neoplasms. [ABSTRACT FROM AUTHOR]

Lipoblastoma is a rare benign tumor of infancy and childhood, with similar radiographic imaging findings as malignant liposarcoma. Therefore, it is crucial to distinguish through other diagnostics and clinical features. We present our experience with the diagnosis and clinical management of this entity. A retrospective chart review was performed to identify children treated for lipoblastoma at our institution over a 30-year period. Charts were evaluated for diagnostic methods, treatment, and recurrence risk. A total of 9 males and 3 females were identified. The age at diagnosis ranged from 8 months to 44 years. Imaging modalities employed included ultrasound (N = 5), MRI (N = 12), X-ray (N = 8), and CT (N = 3). The tumor location was reported in the lower extremity (N = 8) and upper extremity (N = 4). The tumor size ranged from 1.7 to 18 cm (mean=7.08 cm). All patients underwent complete resection. Available pathology reports noted masses featuring mature adipocytes (N = 1), fibrous septa (N = 2), focal myxoid changes (N = 1), and spindle cells (N = 2). Nine patients underwent chromosomal analysis, which demonstrated five chromosome 8 abnormalities. No recurrences were reported. Three patients had follow-up imaging, and 11 had follow-up visits between 2 weeks to 15 years. Lipoblastoma is an uncommon childhood neoplasm of embryonic white fat that can also be present in adolescence and adulthood. Imaging, especially MRI, is helpful in limiting the differential diagnosis, but definitive diagnosis requires tissue biopsy, which should be obtained with core biopsy rather than fine needle aspiration. Surgical resection is curative with few complications. We do not recommend routine monitoring as recurrence is unlikely. [ABSTRACT FROM AUTHOR]

Introduction and Importance: Lipoblastoma is a rare, benign tumor that primarily affects infants and young children, representing a small percentage of soft tissue tumors in this population. Its early diagnosis and surgical management are crucial for favorable outcomes, as lipoblastoma can lead to significant complications if left untreated., Case Presentation: We report the case of an 18-month-old female toddler who presented with a progressively growing, painless mass in the left medial thigh, which had developed over six months. Imaging studies, including CT and MRI, revealed a well-defined, hypodense lobulated mass consistent with lipoblastoma. Surgical excision was performed, and the mass measured approximately 7 by 6 cm. Histopathological examination confirmed the diagnosis of lipoblastoma. The patient experienced a successful recovery without recurrence during a one-year follow-up period., Discussion: Lipoblastoma typically presents as a painless subcutaneous soft tissue mass that progressively grows. Symptoms often relate to the tumor's location and size or the mass effect on surrounding structures. Imaging studies, particularly CT and MRI, play a crucial role in making a presumptive diagnosis by revealing the tumor's characteristics and components. Total excision remains the treatment of choice for lipoblastoma., Conclusion: Lipoblastoma should be included in the differential diagnosis of rapidly growing, painless masses in children under three years of age. The treatment of choice is complete surgical resection of the tumor, which is crucial for achieving favorable outcomes and reducing recurrence risk., Competing Interests: Conflict of interest statement The authors declare that they have no competing interests., (Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Abstract Background Lipoblastoma is a rare benign mesenchymal tumor of embryonal fat affecting mainly children below 3 years of age. It presents usually as a painless rapidly growing soft lobular mass in the extremities, trunk, and less frequently in the head-neck region. Preoperative imaging is used to assess the extent of disease and aid surgical planning. Complete surgical excision without injury to surrounding vital structures is the treatment of choice. Case presentation We report three interesting lipoblastoma cases: mediastinal lipoblastoma with airway compression and ipsilateral diaphragmatic eventration, neck lipoblastoma with intrathoracic extension, and huge thoracic inlet lipoblastoma with compression of common carotid and Lt subclavian arteries, brachial plexus, and ipsilateral diaphragmatic eventration. Complete excision of lipoblastoma mass was done via neck incision in two cases, and the third case required thoracoscopic excision of intrathoracic remnant 6 months later. All three patients had an excellent outcome. Conclusions Management of cervicothoracic lipoblastoma is a surgical challenge due to the potential for rapid growth and extension to different fascial planes; however, successful excision can be achieved via a neck approach. Complete surgical excision is essential to prevent local recurrence and improve the outcome.

Lipoblastoma-like tumour of the vulva (LLTV) is a rare soft tissue neoplasm with only nineteen reported cases to date. The clinical behaviour in all cases has been benign, with a small number of local recurrences and no incidences of metastasis described. We present an unusual case of LLTV that arose in a 16-year-old female who subsequently developed histologically identical lesions in the breast, chest wall and retroperitoneum, over the course of three and a half years. Our comprehensive histopathological analysis and molecular genetic studies supported the diagnosis of LLTV, with absence of DDIT3 rearrangement and absence of other specific diagnostic genetic events for any other soft tissue neoplasm. Whole exome sequencing was performed on the vulva, vulva recurrence, breast, and lung lesions and revealed a complex genome with striking similarity between the tumours. Multiple somatic mutations of interest were identified, including in MTOR and the TERT promoter, which enabled patient treatment with a specific inhibitor. To our knowledge, this is the first reported case of metastasising LLTV, and the first comprehensive genetic analysis of such a tumour.

Lipoblastoma is rare tumour of embryonic white fat cells, mostly seen in children less than 3 years of age presenting as a painless enlarging mass in the extremities and trunk; rarely seen in head and neck region. Here is a report of rare case of neck swelling in a child.

Teaching Point: Lipoblastoma should be considered in the differential diagnosis of painful rapidly growing fatty mass within the mediastinum in infants or young children under three years old.

Translocations involving PLAG1 occur in several tumors, most commonly pleomorphic adenoma and lipoblastoma. Recently, a distinctive soft tissue tumor with a PLAG1 fusion has been reported in the pediatric age group. These are low grade tumors with a fibroblastic or mixed fibroblastic and myxoid morphology but no other lines of differentiation. They are typically immunopositive for desmin and CD34. The partner genes for these tumors have included YWHAZ, EEF1A1, ZFHX4l, CHCHD7, and PCMTD1. We report another case of this fibromyxoid tumor with a PLAG1 fusion, this time with COL3A1 as the partner gene. The fusion placed expression of a full‐length PLAG1 protein under the control of the constitutively active COL3A1 promoter. Overexpression of PLAG1 was confirmed by diffusely positive immunostaining for PLAG1. The most novel aspect of this tumor is the intracranial location. Opinion has been divided over whether these tumors are a specific entity, or related to lipoblastoma, since that tumor also typically occurs in soft tissue in the pediatric age group and shows many of the same gene fusions. However, lipoblastoma has never been reported in an intracranial location and, thus, our case provides compelling evidence that this fibromyxoid tumor is indeed a distinct entity. [ABSTRACT FROM AUTHOR]

Lipoblastomas are rare benign mesenchymal tumors comprised primarily mature adipocytes, which are most commonly found in infants and children younger than 3 years. They are usually found in the extremities, trunk, head, neck, and retroperitoneum, although cases occurring in the scrotum have been reported. Due to its rarity, there is a relative paucity of literature describing its imaging and management. We present a rare case of a scrotal lipoblastoma, and discuss the current imaging strategies to differentiate this adipocytic tumor from other more common paratesticular masses, including aggressive neoplasms such as rhabdomyosarcomas. Knowledge of the radiological appearance of lipoblastoma can provide the correct diagnosis and prevent unnecessary orchiectomy.

Lipoblastoma is a relatively rare tumor that occurs in infancy and early childhood which arises from embryonic fat. It occurs mostly in trunk and extremities, but abdomen and pelvic lipoblastomas are rare. It presents as a mass with or without mass effect. Computed tomography/magnetic resonance imaging of the abdomen with pelvis is the investigation of choice. We present two cases of pelvic lipoblastoma with extension in ischiorectal fossa and the intra-abdominal lipoblastoma which were excised completely by laparoscopy. We are reporting these cases because of rarity of the disease and feasibility of complete laparoscopic excision.

Lipoblastoma and lipoblastomatosis are benign fatty tumors of soft tissues that are unique to childhood. Occurrence of lipoblastoma in the labial region is infrequent and can cause diagnostic dilemma. Awareness about this entity is important to avoid hazardous treatment in young children. Here, we present a case of labial lipoblastoma in a 2-year-old child along with its differential diagnosis.

Abstract Background Lipoblastoma is a rare benign mesenchymal neoplasm of infancy that most commonly occurs on the extremities and trunk but can arise at variable sites of the body. Retroperitoneal lipoblastomas are particularly rare but can grow to enormous size, and preoperative diagnosis is difficult with diverse, mostly malignant differential diagnoses that would lead to aggressive therapy. Since lipoblastoma is a benign tumor that has an excellent prognosis after resection, correct diagnosis is crucial. Case presentation A case of a large retroperitoneal tumor of a 24-month old infant that was clinically suspicious of a malignant tumor is presented. Due to proximity to the right kidney, clinically most probably a nephroblastoma or clear cell sarcoma of the kidney was suspected. Radiological findings were ambiguous. Therefore, the mass was biopsied, and histology revealed an adipocytic lesion. Although mostly composed of mature adipocytes, in view of the age of the patient, the differential diagnosis of a (maturing) lipoblastoma was raised, which was supported by molecular analysis demonstrating a HAS2-PLAG1 fusion. The tumor was completely resected, and further histopathological workup led to the final diagnosis of a 13 cm large retroperitoneal maturing lipoblastoma. The child recovered promptly from surgery and showed no evidence of recurrence so far. Conclusion Although rare, lipoblastoma should be included in the differential diagnoses of retroperitoneal tumors in infants and children, and molecular diagnostic approaches could be a helpful diagnostic adjunct in challenging cases.

Lipoblastoma is a rare benign tumor originating from adipose tissue, usually seen in infancy and early childhood. Here, we present a case of scalp lipoblastoma in a 4-month-old that we treated surgically and review the literature. Although lipoblastomas may be seen in various locations during infancy and early childhood, rarely, they can also develop in the scalp. [ABSTRACT FROM AUTHOR]

Lipomatous neoplasms are a rare entity in the pediatric population, comprising less than 10% of soft tissue tumors in the first two decades of life. Some characteristics of pediatric adipocytic tumors are analogous to their adult counterparts, some pediatric lipomatous lesions however harbor unique features. In recent years, there have been significant advances in the understanding of the pathogenesis and hence in the classification and treatment of pediatric adipocytic tumors. This literature-based article will provide a review of the presently known clinicopathological, immunohistochemical and molecular features of pediatric lipomatous lesions. [ABSTRACT FROM AUTHOR]

Teaching Point: Lipoblastoma should be considered in the differential diagnosis of painful rapidly growing fatty mass within the mediastinum in infants or young children under three years old. [ABSTRACT FROM AUTHOR]

Background: The hallmark of lipoblastoma is a PLAG1 fusion. PLAG1 protein overexpression has been reported in sporadic PLAG1-rearranged lipoblastomas. Methods: We evaluated the utility of PLAG1 immunohistochemical staining (IHC) in 34 pediatric lipomatous tumors, correlating the results with histology and conventional cytogenetics, FISH and/or next generation sequencing (NGS) results. Results: The study included 24 lipoblastomas, divided into 2 groups designated as "Lipoblastoma 1" with both lipoblastoma histology and PLAG1 rearrangement (n = 16) and "Lipoblastoma 2" with lipoblastoma histology but without PLAG1 cytogenetic rearrangement (n = 8), and 10 lipomas with neither lipoblastoma histology nor a PLAG1 rearrangement. Using the presence of a fusion as the "gold standard" for diagnosing lipoblastoma (Lipoblastoma 1), the sensitivity of PLAG1 IHC was 94%. Using histologic features alone (Lipoblastoma 1 + 2), the sensitivity was 96%. Specificity, as defined by the ability to distinguish lipoma from lipoblastoma, was 100%, as there were no false positives in the lipoma group. Conclusions: Cytogenetics/molecular testing is expensive and may not be ideal for detecting PLAG1 fusions because PLAG1 fusions are often cytogenetically cryptic and NGS panels may not include all partner genes. PLAG1 IHC is an inexpensive surrogate marker of PLAG1 fusions and may be useful in distinguishing lipoblastomas from lipomas. [ABSTRACT FROM AUTHOR]

Adipocytic tumours are among the most common mesenchymal neoplasms, and constitute a clinically, biologically and pathologically diverse group. Their wide histological spectrum and frequent morphological overlap have made classification and diagnosis challenging, with accurate classification being critical because of the considerable differences in prognosis and management between morphologically overlapping neoplasms. Ongoing advances in molecular genetics have aided significantly to our understanding of these neoplasms, with continuing evolution in classification. This review summarises the new developments in benign and malignant adipocytic neoplasms, with discussion of new entities and genetic findings, updates on the clinical and morphological spectrum, and the use of diagnostic immunohistochemistry and molecular markers in the differential diagnosis. [ABSTRACT FROM AUTHOR]

Lipoblastoma is a rare, benign lesion of adipose tissue that usually occurs in upper and lower limbs. However, lipoblastoma of head and neck, trunk, mediastinum, mesenteric, retroperitoneum, kidneys, and perineal region has been reported to date. In this case report, we introduce lipoblastoma in a 16-month female infant who was referred to the clinic by her parents because of a rapid growing mass in labia major region from 2 months ago. In imaging, an ill-defined lobulated mass with heterogeneous enhancement was found adjacent to the pubis and left inferior ramus that was suggestive of soft tissue sarcoma. The patient underwent incomplete radical vulvectomy. Histopathological study reported "lipoblastoma" as a definite diagnosis. Five-year follow up revealed no recurrence. Although genital lipoblastoma is a rare, benign lesion, it should be differentiated from malignant tumors such as liposarcoma.

Abstract Background Lipomatous tumors are the most common type of soft-tissue tumors. Benign lipomatous tumors are lipomas and lipoblastoma. We herein report a case of benign mesenteric lipomatous tumor and the largest collection of known benign mesenteric lipomatous tumors in children in the literature. Case presentation A 3-year-old girl presented with repeated dull abdominal pain and left abdominal mass swelling. On a physical examination, the child had a soft, moderately distended left abdomen that was not tender when palpated. Computed tomography and magnetic resonance imaging demonstrated a large fatty mass within the mesentery, measuring approximately 8 × 6 cm. The mass extended from the right upper quadrant to the lower pole of the kidneys. Laparotomy with resection of the mesenteric tumor was performed under general anesthesia. A well-capsuled tumor was a soft, yellow mass and found loosely attached to the mesenterium of the ileum. A histopathological examination demonstrated the lobular proliferation of mature adipocytes. Atypical lipoblasts were not seen. These features are compatible with benign lipomatous tumor, such as lipoma or lipoblastoma with maturation. Conclusion In conclusion, benign mesenteric lipomatous tumors tend to be large in size over 10 cm in longitudinal length. However, resection is well tolerated in the vast majority of cases with benign post-operative courses.

Introduction: Adipocytic tumors and its variants are common neoplasms of adults; however, they are rarely seen in paediatric age group, too. Lipoblastoma typically occurs in children and are diagnosed by the presence of a multivacuolated lipoblast. However, things get complicated when one has to search for these lipoblasts in a background of classical lipoma. As a result, such cases are misdiagnosed and managed inappropriately. We report the first case of a congenital lipoma like lipoblastoma with an unusual presentation. Case Presentation: A 10-day-old male was admitted to the Paediatric Surgery Outpatient Department with a mass in his perianal region since birth. On examination, the mass was non-tender, pedunculated, and located at the margin of the anal opening. A provisional clinical diagnosis of anal tag was made, and swelling was excised. Grossly, we received a skin covered soft tissue mass measuring 1.2cm in diameter. The cut section was yellow and had a soft to firm consistency. Histopathological examination showed a well-delineated moderately cellular lesion comprising of lobules of adipocytes in varying stages of maturation; large number of mature adipocytes and few interspersed multivacuolated lipoblasts. A final diagnosis of lipoma-like lipoblastoma was made. Conclusion: Lipoma-like lipoblastoma can be seen as a congenital mass and at unusual sites like the perianal region. An accurate diagnosis of this entity is essential for appropriate management. Histopathology is the gold standard for diagnosis and calls for increased awareness.

Los tumores óseos y de partes blandas localizados en el pie son muy poco frecuentes. El lipoblastoma es una neoplasia benigna de partes blandas rara que se presenta exclusivamenteen la población pediátrica, con predilección por el sexo masculino. Su asiento preferente es en las extremidades pero raramente afecta el pie.Presentamos un caso de lipoblastomade pie de un niño de 13 meses de edad y realizamos una revisión de la literatura.

Objective: Although lipomatous tumors are the most common type of mesenchymal tumors in adults, they account for less than 10% of all soft tissue lesions in pediatric patients. In this descriptive study, we aim to present our series of pediatric lipomatous tumors consisting of lipoma, neural fibrolipoma, lipoblastoma, atypical lipomatous tumor, myxoid liposarcoma and pleomorphic liposarcoma, and to evaluate the clinicopathological characteristics of these tumors in reference to the literature. Material and Method: In this study, pediatric lipomatous tumor cases diagnosed between 2002 and 2018 were screened from pathological archives and retrospectively evaluated. Results: A total of 50 cases were diagnosed with lipomatous tumor within the mentioned period. Of the total cases, 24 were female (48%) and 26 were male (52%), with age distribution ranging from 1 to 204 months. Histopathological examination revealed lipoma in 26 cases (52%), lipoblastoma in 19 (38%), atypical lipomatous tumor in 2 (4%), myxoid liposarcoma in 2 (4%), and pleomorphic liposarcoma in 1 case (2%). Conclusion: Although lipomatous tumors are the most common type of mesenchymal tumors; they rarely occur in children. Since there is a limited number of studies on pediatric lipomatous tumors in the literature, there is insufficient data on the prevalence and incidence of these tumors. These tumors may slowly enlarge to greater sizes, especially those localized in deep tissues, and may cause various clinical symptoms by compressing surrounding tissues. Local recurrences may occur, even after total excision, and require close monitoring.

Lipoblastomas are benign neoplasms of white adipose which usually occupy the trunk and limbs in pediatric patients. They can seldomly involve the head and neck, usually as a lateral cervical mass. Magnetic resonance imaging is the most useful modality for identifying these lesions. Treatment involves complete excision, and patients are followed with serial exams and/or imaging as recurrence is more common in the head and neck. Here we present an exceedingly rare case of retropharyngeal lipoblastoma in a two-year-old male causing severe obstructive sleep apnea which was identified during adenotonsillectomy. As this mass can be mistaken for other more common masses of the retropharyngeal space, we review the differential diagnoses, imaging, and histopathologic features of this neoplasm, which was responsible for upper airway obstruction in this case.

The 5th edition of the WHO classification of Soft Tissue and Bone tumors recognizes lipoblastoma as a benign adipocytic tumor with excellent prognosis and a recurrence rate of 13–46%. The characteristic genomic alteration that helps separate lipoblastoma from morphologic mimics particularly myxoid liposarcoma is rearrangement of 8q11-13 involving PLAG1. PLAG1 (Pleomorphic adenoma gene 1) is located at 8q12.1 and have been reported to be involved in chromosome rearrangements in various tumors including lipoblastoma, epithelial, and mesenchymal tumors. At least 20 fusion partners of PLAG1 have been reported. This report presents EIF4A2 (Eukaryotic Translation Initiation Factor 4A2) as a novel fusion partner of PLAG1.

Lipoblastoma is a slowly growing benign tumor that arises from adipose tissue and diagnosed mostly below 3 years of life in the trunk (10%–60%), in the extremities (40%–45%) and rarely in the head and neck [1]We report a fifteen months old male patient who was presented to our institute with abdominal distension and short period of increasing dyspepsia. Abdominal exploration revealed a 15 × 15 cm freely mobile mesenteric lipoblastoma which was excised completely with the pathological examination confirming the diagnosis.

Atypical lipomatous tumors (ALTs) are locally aggressive adipocytic malignancies that frequently occur in middle-aged adults. We report the rare case of an ALT of the thigh that occurred in a 4-year-old girl. Since the tumor was initially diagnosed as a lipoblastoma by incisional biopsy, marginal resection was performed. Histopathological findings of the surgical specimen revealed the proliferation of mature and variously sized adipocytes, as well as ectopic ossification; these features differ from the typical findings of lipoblastoma. Immunohistochemical findings showed nuclear positivity for a murine double minute 2 (MDM2) and cyclin-dependent kinase 4 (CDK4) and negativity for pleomorphic adenoma gene 1 (PLAG1). Fluorescence in situ hybridization showed abnormal amplification of the MDM2 gene. The patient was thus finally diagnosed as having an ALT. No signs of local recurrence or metastasis were noted 1 year postoperatively. This case is instructive in the differential diagnosis of primary adipocytic tumors. Lipoblastomas are the most common adipocytic tumors in children, but if a tumor is located in the deep tissue or imaging findings are not typical, the possibility of ALT should be considered and immunohistochemistry for MDM2 and CDK4 should be added., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Ogawa, Hakozaki, Kaneuchi, Suzuki, Nikaido, Yamada, Utsumi, Hasegawa, Sano and Matsumoto.)

Abstract Background Lipoblastoma is a rare benign neoplasm of the adipose tissue occurring most commonly in infants and young children. This tumor can present as a localized, well-circumscribed lesion (lipoblastoma) or as a multi-centric lesion (lipoblastomatosis). Case presentation This is a case report of lipoblastoma in a 19-month-old male with 9 months history of rapidly progressing axillary mass. Examination revealed a well-circumscribed right axillary mass measuring 25 cm × 20 cm with normal overlying skin and prominent, visibly distended superficial veins. He had surgical excision of the mass. Histologic examination revealed lipoblastoma. There has been no recurrence in the last 21 months of follow-up. Conclusion The report is presented for its rarity and also for its potential to pose diagnostic difficulty to surgeons. Surgical excision offers the best chance of cure. Long-term follow-up is also important to detect recurrence.

Background: Lipoblastoma is a rare benign mesenchymal neoplasm of infancy that most commonly occurs on the extremities and trunk but can arise at variable sites of the body. Retroperitoneal lipoblastomas are particularly rare but can grow to enormous size, and preoperative diagnosis is difficult with diverse, mostly malignant differential diagnoses that would lead to aggressive therapy. Since lipoblastoma is a benign tumor that has an excellent prognosis after resection, correct diagnosis is crucial. Case presentation: A case of a large retroperitoneal tumor of a 24-month old infant that was clinically suspicious of a malignant tumor is presented. Due to proximity to the right kidney, clinically most probably a nephroblastoma or clear cell sarcoma of the kidney was suspected. Radiological findings were ambiguous. Therefore, the mass was biopsied, and histology revealed an adipocytic lesion. Although mostly composed of mature adipocytes, in view of the age of the patient, the differential diagnosis of a (maturing) lipoblastoma was raised, which was supported by molecular analysis demonstrating a HAS2-PLAG1 fusion. The tumor was completely resected, and further histopathological workup led to the final diagnosis of a 13 cm large retroperitoneal maturing lipoblastoma. The child recovered promptly from surgery and showed no evidence of recurrence so far. Conclusion: Although rare, lipoblastoma should be included in the differential diagnoses of retroperitoneal tumors in infants and children, and molecular diagnostic approaches could be a helpful diagnostic adjunct in challenging cases. [ABSTRACT FROM AUTHOR]

Background: Lipoblastoma is a rare benign mesenchymal tumor of embryonal fat affecting mainly children below 3 years of age. It presents usually as a painless rapidly growing soft lobular mass in the extremities, trunk, and less frequently in the head-neck region. Preoperative imaging is used to assess the extent of disease and aid surgical planning. Complete surgical excision without injury to surrounding vital structures is the treatment of choice. Case presentation: We report three interesting lipoblastoma cases: mediastinal lipoblastoma with airway compression and ipsilateral diaphragmatic eventration, neck lipoblastoma with intrathoracic extension, and huge thoracic inlet lipoblastoma with compression of common carotid and Lt subclavian arteries, brachial plexus, and ipsilateral diaphragmatic eventration. Complete excision of lipoblastoma mass was done via neck incision in two cases, and the third case required thoracoscopic excision of intrathoracic remnant 6 months later. All three patients had an excellent outcome. Conclusions: Management of cervicothoracic lipoblastoma is a surgical challenge due to the potential for rapid growth and extension to different fascial planes; however, successful excision can be achieved via a neck approach. Complete surgical excision is essential to prevent local recurrence and improve the outcome. [ABSTRACT FROM AUTHOR]

Lipoblastoma is a rare benign tumor of primitive white fat in children, which usually involves the trunk and extremities. It rarely involves retroperitoneum, head, neck, and mediastinum. Herein, the authors introduce a rare presentation of lipoblastoma as a large intrathoracic mass. [ABSTRACT FROM AUTHOR]