Intrathoracic extension of a chest wall Lipoblastoma in an infant: A rare case report.

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.

A giant gluteal lipoblastoma in a 24-month-old girl: A case report.

INTRODUCTION AND IMPORTANCE: Lipoblastomas are rare benign tumors that arise from embryonic white fat and almost always occur in babies and children. CASE PRESENTATION: Here, we report a case of a giant gluteal lipoblastoma in a 24-month-old girl that was successfully treated via complete resection. CLINICAL DISCUSSION: The gluteal location as in this case is an exceptional location. These tumors generally are benign, and there have been no reports of metastasis. Local recurrence can occur, particularly with lipoblastomatosis, when excision is incomplete. Surgical resection is the treatment of choice. The goal is always complete resection with negative margins, but this can be difficult to obtain with lipoblastomatosis. No spontaneous resolution or reduction of lipoblastoma has ever been reported, and a recurrence rate of 14 % and 25 % is reported in cases of incomplete excision. CONCLUSION: Lipoblastoma is a benign neoplasm of immature fat tissue occurring in infants. The gluteal region location is relatively rare. Imaging, especially MRI, is helpful in diagnosis and preoperative evaluation. An adequate pathological examination could bring huge benefits. Total surgical resection is the treatment of choice. Subtotal resection and "wait and see policy" may be discussed for highly risky intervention.

Thoracic lipoblastoma in a 6-year-old African male: a case report.

Lipoblastoma is a very infrequent tumor, characteristic of early childhood. The thoracic location is infrequent, with isolated reports to date. We present the case of a 6-year-old male patient with a right thoracic tumor of months of evolution that was surgically removed by right anterolateral thoracotomy and in which the diagnosis of classic well-differentiated lipoblastoma was histologically confirmed. The patient evolved favorably and was discharged. He is currently under follow-up and without recurrence 1 year after surgery. This is, to our knowledge, the first thoracic lipoblastoma reported in an African pediatric patient. The importance of knowing the clinical, semiological, and intraoperative characteristics of this tumor becomes even more important, as in our case, in the context of international cooperation, where in many cases, there is no possibility of performing pre-operative imaging studies or subsequent genetic studies.

El lipoblastoma es un tumor muy infrecuente, característico de la primera infancia. La localización torácica es infrecuente, con reportes aislados hasta la fecha. Presentamos el caso de un paciente varón de 6 años con una tumoración torácica derecha de meses de evolución que fue extirpada quirúrgicamente mediante toracotomía anterolateral derecha y en la que se confirmó histológicamente el diagnóstico de lipoblastoma clásico bien diferenciado. El paciente evolucionó favorablemente y fue dado de alta. Actualmente se encuentra en seguimiento y sin recidiva un año después de la cirugía. Este es, hasta donde sabemos, el primer lipoblastoma torácico reportado en un paciente pediátrico africano. La importancia de conocer las características clínicas, semiológicas e intraoperatorias de este tumor cobra aún más importancia, como en nuestro caso, en el contexto de la cooperación internacional, donde en muchos casos no existe la posibilidad de realizar estudios de imagen preoperatorios ni estudios genéticos posteriores.

Giant intrathoracic lipoblastoma in a 3-year-old child.

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.

Fetal Lipoblastoma Presenting as a Retroperitoneal Tumor in Adults: A Case Report.

Lipoblastoma (LB) is a rare benign mesenchymal soft tissue neoplasm that most frequently occurs in childhood. In this case, we describe a 33-year-old female with intermittent abdominal pain due to the presence of a slowly growing abdominal tumor. We will explain the ideal diagnostic protocol and compare it with the diagnostic approach performed at a second level of care with limited resources. A simple abdominal tomography confirmed the presence of the retroperitoneal tumor, which led to the planning of surgical management for these tumor cases. A "complete resection" is considered the ideal approach, along with the follow-up to rule out any complications.

Localización atípica de un lipoblastoma en una niña de 5 años / Atypical location of lipoblastoma in a 5-year-old girl

Se informa de un lipoblastoma perineal en una niña de 5 años localizado en el labio mayor derecho. La lesión aumentó gradualmente en 6 meses. En la ecografía y la resonancia magnética (RM), se observó un tumor heterogéneo sólido limitado con componente graso. Tras su extirpación quirúrgica, el estudio anatomopatológico confirmó un lipoblastoma. El lipoblastoma es un tumor mesenquimatoso benigno poco frecuente de la lactancia y la primera infancia. Los síntomas varían en función de la localización; pueden observarse signos de compresión de los órganos adyacentes. Este tipo de tumores inusuales de los tejidos blandos son más frecuentes en menores de 3 años. Los lipoblastomas se localizan predominantemente en las extremidades, pero también pueden encontrarse en la cabeza y el cuello, el tronco, el mediastino, el riñón, el mesenterio, el retroperitoneo y el perineo. Se debe sospechar su presencia en función de los hallazgos de la ecografía y la RM.

We reported a perineal lipoblastoma in a 5-year-old girl located in the right labia mayor. The lesion gradually increased within 6 months. Ultrasound and magnetic resonance imaging (MRI) showed a limited solid heterogenous tumor with fatty component. After it had been surgically removed, the anatomopathological examination confirmed that it was a lipoblastoma. Lipoblastoma is a rare benign mesenchymal tumor of infancy and early childhood. Symptoms vary depending on localization; signs of compression of adjacent organs may be seen. This type of unusual soft tissue tumors occurred most often in under 3 years old. The localization of lipoblastomas is predominantly in the extremities but may be also found in other sites including the head and neck, trunk, mediastinum, kidney, mesentery, retropritoneum and perineum. The suspicion should be considered according to ultrasound and MRI findings.

Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement.

Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or structural rearrangements of chromosome 8, the majority of which involve the pleomorphic adenoma gene 1 (PLAG1) proto-oncogene on chromosome 8q12. Here, we report on a LPB case on which showed evidence of chromothripsis. This is the second reported case of chromothripsis in LPB.

Labial Lipoblastoma in an Infant: An Uncommon Tumor at an Uncommon Site.

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.

Head and neck lipoblastoma in children: A case report and systematic review.

BACKGROUND: Lipoblastoma is a rare and benign tumor arising from embryonal fat cells. It develops primarily in infancy and early childhood. We present a case study of a 10-month-old child treated for an extensive tumor of the infratemporal fossa and parapharyngeal space. The systematic review of 60 reports in 80 children with lipoblastoma of the head and neck is also reported. MATERIAL AND METHODS: Systematic review of all articles included lipoblastomas of the head and neck area in children published from 1964 to 2022 in the PubMed database was conducted. Clinical presentation of extensive lipoblastoma of the head and neck in a child. RESULTS: On the basis of all inclusion criteria 83 articles were identified concerning pediatric lipoblastoma. There were 36 F (45%) and 39 M (48%), in 6 patients, (7%) gender was not specified. Ages ranged from 0mth (6h) to 15 yo (180mth). The tumor was located in the head in 22 (27%) cases, while the neck area accounted for 53 (65%) cases. General description without precise location was shown in 6 (7%) cases. All patients underwent complete surgical excision. Post surgical recurrence was noted in 6% clinical cases in the analyzed articles. CONCLUSIONS: Lipoblastoma is characterized by a rapidly growing predominantly adipose mass. The treatment of choice is complete surgical excision. In selected cases when the pathology is hard to reach, as a consequence of the extensive penetration of the mass, we recommend performing the procedure with an interdisciplinary team. Endoscopy assistance and microdebrider significantly facilitated the removal of pathology in the described advanced case of lipoblastoma. This is the only case reported in the pediatric literature of a head and neck lipoblastoma, where due to extensive involvement and location of the disease the cranial nerves V2 and inferior alveolar branch of V3 could not be spared. Long-term follow-up even to 10 years is required because there is a reported tendency for these tumors to recur.

Paediatric Mediastinal Lipoblastoma.

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.

Lipoblastoma Arising in the Head and Neck: A Clinicopathologic Analysis of 20 Cases.

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.

Expanding the Clinicopathologic and Molecular Spectrum of Lipoblastoma-Like Tumor in a Series of 28 Cases.

Lipoblastoma-like tumor (LLT) is a rare adipocytic neoplasm with a predilection for the vulva. Since 2002, <30 cases have been reported, characterizing it as an indolent tumor that may sometimes recur locally. Diagnosis can be challenging due to its rarity and morphologic overlap with other adipocytic tumors. Thus far, there are no specific molecular or immunohistochemical features to aid in the diagnosis of LLT. Recent case reports have described LLT arising at other sites, including the spermatic cord and gluteal region, suggesting wider anatomical distribution. We present a large series of LLT to further characterize its clinicopathologic and molecular features. Twenty-eight cases of LLT were retrieved from departmental and consult archives (including 8 from a prior series). The cohort comprised 28 patients (8 males, 20 females) with a median age of 28 years (range: 1-80 years). There were 17 primary LLT of the vulva. Other anatomical sites included the scrotum (n = 3), spermatic cord (n = 2), inguinal region (n = 2), limbs (n = 2), pelvis (n = 1), and retroperitoneum (n = 1). Median tumor size was 6.0 cm (range: 1.8-30.0 cm). The tumors had a lobulated architecture and were typically composed of adipocytes, lipoblasts, and spindle cells in a myxoid stroma with prominent thin-walled vessels. Using immunohistochemistry, a subset showed loss of Rb expression (12/23 of samples). Follow-up in 15 patients (median: 56 months) revealed 8 patients with local recurrence and 1 patient with metastases to the lung/pleura and breasts. Targeted DNA sequencing revealed a simple genomic profile with limited copy number alterations and low mutational burden. No alterations in RB1 were identified. The metastatic LLT showed concurrent pathogenic PIK3CA and MTOR activating mutations, both in the primary and in the lung/pleural metastasis; the latter also harbored TERT promoter mutation. One tumor had a pathogenic TSC1 mutation, and one tumor showed 2-copy deletion of CDKN2A, CDKN2B, and MTAP. No biologically significant variants were identified in 8 tumors. No gene fusions were identified by RNA sequencing in 4 tumors successfully sequenced. This study expands the clinicopathologic spectrum of LLT, highlighting its wider anatomical distribution and potential for occasional metastasis. Molecularly, we identified activating mutations in the PI3K-MTOR signaling pathway in 2 tumors, which may contribute to exceptional aggressive behavior.

Lipoblastomatosis Extended into the Lumbar Spinal Canal in a Child: A Case Report.

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.

Lipoblastoma-Like Tumor and Fibrosarcoma-Like Lipomatous Neoplasm Represent the Same Entity: A Clinicopathologic and Molecular Genetic Study of 23 Cases Occurring in Both Men and Women at Diverse Locations.

Lipoblastoma-like tumor (LLT) is a benign soft tissue tumor demonstrating mixed morphologic features of lipoblastoma, myxoid liposarcoma, and spindle cell lipoma but lacking genetic alterations associated with those tumors. LLT was originally thought to be specific to the vulva but has since been reported in the paratesticular region. The morphologic features of LLT overlap with those of "fibrosarcoma-like lipomatous neoplasm" (FLLN), a rare, indolent adipocytic neoplasm considered by some to form part of the spectrum of atypical spindle cell and pleomorphic lipomatous tumor. We compared the morphologic, immunohistochemical, and genetic features of 23 tumors previously classified as LLT (n = 17) and FLLN (n = 6). The 23 tumors occurred in 13 women and 10 men (mean age, 42 years; range, 17 to 80 years). Eighteen (78%) cases arose in the inguinogenital region, whereas 5 tumors (22%) involved noninguinogenital soft tissue, including the flank (n = 1), shoulder (n = 1), foot (n = 1), forearm (n = 1), and chest wall (n = 1). Microscopically, the tumors were lobulated and septated, with variably collagenized fibromyxoid stroma, prominent thin-walled vessels, scattered univacuolated or bivacuolated lipoblasts, and a minor component of mature adipose tissue. Using immunohistochemistry, 5 tumors (42%) showed complete RB1 loss, with partial loss in 7 cases (58%). RNA sequencing, chromosomal microarray, and DNA next-generation sequencing study results were negative for significant alterations. There were no clinical, morphologic, immunohistochemical, or molecular genetic differences between cases previously classified as LLT or FLLN. Clinical follow-up (11 patients [48%]; range, 2-276 months; mean, 48.2 months) showed all patients were alive without disease, and only one patient had experienced a single local recurrence. We conclude that LLT and FLLN represent the same entity, for which "LLT" seems most appropriate. LLT may occur in either sex and any superficial soft tissue location. Careful morphologic study and appropriate ancillary testing should allow for the distinction of LLT from its potential mimics.

Pérdida ponderal como debut de lipoblastoma mesentérico en un lactante / Weight loss as clinical presentation of mesenteric lipoblastoma in an infant

Introducción: el estancamiento ponderal durante el segundo año de vida es un motivo frecuente de consulta que requiere seguimiento y, en ocasiones, pruebas complementarias con el fin de descartar las causas más frecuentes a esta edad, tales como infecciones o síndromes malabsortivos. Se presenta el caso de un lactante con estancamiento ponderal de etiología poco frecuente. Caso clínico: varón que a partir de los 15 meses de edad comienza con pérdida ponderal, con apetito y estado general conservados, sin otros síntomas. Se objetiva un descenso de peso desde el percentil 75 hasta el percentil 25 a lo largo de tres meses, sin repercusión en la talla ni el perímetro cefálico. A la exploración física tenía aspecto desnutrido, con distensión y timpanismo abdominal. Se solicitan pruebas complementarias, incluyendo anticuerpos de celiaquía por sospecha de síndrome malabsortivo, que fueron normales. En la ecografía abdominal se observa imagen compatible con tumoración de gran tamaño. Ante estos hallazgos, se amplían pruebas de imagen mediante tomografía computarizada (TC) y resonancia magnética (RM) abdominales, donde se encuentra una imagen compatible con lipoblastoma mesentérico. Se interviene quirúrgicamente a los 20 meses, confirmándose en el estudio histológico el diagnóstico de sospecha. Conclusión: los lipoblastomas son tumores benignos, infrecuentes, prácticamente exclusivos de la edad pediátrica. Generalmente se localizan en zonas superficiales, siendo estos asintomáticos. Los de localización profunda, como el del caso descrito, son excepcionales y pueden producir síntomas secundarios a compresión local. El diagnóstico definitivo se realiza mediante estudio histológico, siendo la exéresis el tratamiento de elección (AU)

Introduction: loss weight in the second year of life is a frequent reason for consultation that requires follow-up and sometimes work up complementary in order to rule out the most frequent causes at this age, such as infections or malabsorptive diseases. We present the case of an infant with weight stagnation secondary to an unfrequent cause.Clinical case: a male began with weight loss at 15 months of age, with appetite and general condition preserved without other symptoms. A decrease in weight percentile was observed from 75th to the 25th percentile over three months without repercussions on height or head circumference. On physical examination, he appeared thinned, with abdominal distension and tympanism. Complementary tests, including celiac disease antibodies to suspected malabsorptive syndrome were ordered, without patological findings. Abdominal ultrasound showed an image compatible with a big tumor. With these findings, an abdominal CT scan and MRI were performed, and an image compatible with mesenteric lipoblastoma was found. Surgery was performed at 20 months, supporting the suspected diagnosis in the histological study.Conclusion: lipoblastomas are infrequent benign tumors, mainly exclusive of the pediatric age. Frecuently, they are located in superficial areas, and are asymptomatic. Those of deep localization, as the described case, are usually exceptional, and may present symptoms secondary to local compression. The definitive diagnosis is made by histological study and the removal the treatment of choice. (AU)

Primary cardiac lipoblastoma of the right atrium.

Lipoblastoma is a rare neoplasm of the embryonal white fat. It occurs most commonly in children under the age of 3 years and usually inflicts the superficial soft tissues of trunk and extremities. We present the case of a 3-year-old male patient with a successfully resected primary cardiac right-atrial lipoblastoma with COL1A2::PLAG1 gene fusion.

A rare case of giant mesenteric lipoblastoma causing an abdominal mass in an 8-month-old child.

INTRODUCTION AND IMPORTANCE: Giant mesenteric lipoblastoma (LB) is a rare and benign tumor derived from adipocytes. It may imitate malignant tumors, and its diagnosis is challenging before surgery. The diagnosis can be guided by imaging studies but cannot be confirmed. Just a few cases of lipoblastoma originating from the mesentery are reported in the literature. CASE PRESENTATION: We present a case of a rare giant lipoblastoma arising from the mesentery of an 8-month-old boy who consulted our emergency department for an incidentally discovered abdominal mass. CLINICAL DISCUSSION: LB is most common in the first decade of life, with a high incidence in boys. LBs are generally found in the trunk and extremities. Intra-abdominal locations are rare; however, intraperitoneal tumors generally reach larger dimensions. CONCLUSIONS: Tumors that arise in the abdomen are usually larger and may be discovered by physical exam as an abdominal mass and may cause compression symptoms.

Recurrent 8q11-13 Aberrations Leading to PLAG1 Rearrangements, Including Novel Chimeras HNRNPA2B1::PLAG1 and SDCBP::PLAG1, in Lipomatous Tumors.

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 RT-PCR/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.

Atypical location of lipoblastoma in a 5-year-old girl. / Localización atípica de un lipoblastoma en una niña de 5 años.

We reported a perineal lipoblastoma in a 5-year-old girl located in the right labia mayor. The lesion gradually increased within 6 months. Ultrasound and magnetic resonance imaging (MRI) showed a limited solid heterogenous tumor with fatty component. After it had been surgically removed, the anatomopathological examination confirmed that it was a lipoblastoma. Lipoblastoma is a rare benign mesenchymal tumor of infancy and early childhood. Symptoms vary depending on localization; signs of compression of adjacent organs may be seen. This type of unusual soft tissue tumors occurred most often in under 3 years old. The localization of lipoblastomas is predominantly in the extremities but may be also found in other sites including the head and neck, trunk, mediastinum, kidney, mesentery, retropritoneum and perineum. The suspicion should be considered according to ultrasound and MRI findings.

Se informa de un lipoblastoma perineal en una niña de 5 años localizado en el labio mayor derecho. La lesión aumentó gradualmente en 6 meses. En la ecografía y la resonancia magnética (RM), se observó un tumor heterogéneo sólido limitado con componente graso. Tras su extirpación quirúrgica, el estudio anatomopatológico confirmó un lipoblastoma. El lipoblastoma es un tumor mesenquimatoso benigno poco frecuente de la lactancia y la primera infancia. Los síntomas varían en función de la localización; pueden observarse signos de compresión de los órganos adyacentes. Este tipo de tumores inusuales de los tejidos blandos son más frecuentes en menores de 3 años. Los lipoblastomas se localizan predominantemente en las extremidades, pero también pueden encontrarse en la cabeza y el cuello, el tronco, el mediastino, el riñón, el mesenterio, el retroperitoneo y el perineo. Se debe sospechar su presencia en función de los hallazgos de la ecografía y la RM.