Radiological–pathological correlation in lipoblastoma and lipoblastomatosis

Background Lipoblastoma and lipoblastomatosis are uncommon benign mesenchymal lesions that predominantly occur in infancy and early childhood.Objective To evaluate the imaging and histological features of lipoblastoma and lipoblastomatosis.Materials and methods Retrospective review of the radiological and pathological findings in children with lipoblastoma and lipoblastomatosis treated at a single centre between 1997 and 2004.Results Eight children (median age 18 months) had undergone imaging and surgery at our institution. An infiltrative growth pattern was identified at imaging in two children with lipoblastomatosis, and a well-defined mass in six children with lipoblastoma. In all patients, imaging showed a lesion composed mostly, but not entirely, of fat. There were no recurrences at follow-up of between 1 and 91 months.Conclusion In infancy and early childhood, the identification of a tumour composed mostly of fat should suggest the diagnosis of lipoblastoma or lipoblastomatosis.     

A rare case of inguinolabial lipoblastoma in a 13-month-old female

Lipoblastoma is a rare, rapidly growing, benign mesenchymal tumor composed of various stages of maturing adipocytes that most often occurs in children under the age of 3. The common locations are the extremities and the trunk. Presentation in the genitoinguinal area is rare. We report a case of a 13-month-old female infant with a 4-month history of a progressively enlarging left labial mass that encompassed her left labium majora and inguinal region. Pelvic MRI confirmed growth from previous ultrasound size of 3 × 2 × 1 cm to 7 × 2 × 2 cm. Composition was suggestive of adipose tissue. The mass was excised through a left inguinal incision. The final pathology results described a lipoblastoma. Six year follow-up has not revealed any signs or symptoms of recurrence.Circumscribed lipoblastomas should be distinguished from their infiltrative counterpart, diffuse lipoblastoma or lipoblastomatosis, which can be more difficult to excise and thus, more likely to recur. Lipoblastoma should also be distinguished from myxoid liposarcoma, which has malignant features, carries a high risk of recurrence, and requires a more aggressive management protocol. Although rare, lipoblastoma should be considered as part of the differential diagnosis of a rapidly growing vulvar mass in prepubertal children.     

Pleomorphic myxoid liposarcoma in an adolescent with Li–Fraumeni syndrome

We present the case of a 15-year-old female with a right perineal mass that was found to be pleomorphic myxoid liposarcoma, a recently recognized, rare subtype of liposarcoma. The patient had a strong family history of malignancy and genetic screening revealed a pathogenic TP53 mutation consistent with Li–Fraumeni syndrome.     

Myxoid liposarcoma of the porta hepatis in childhood

Liposarcoma in childhood is rare. A case of a myxoid liposarcoma arising at the porta hepatis is reported in a 3-year-old boy with initial favourable response to surgery combined with radio- and chemotherapy. Fatal recurrence occurred at age 15 years. The radiological and sonographic findings of liposarcomas are reviewed.     

Lipoblastoma of the neck

Lipoblastoma and lipoblastomatosis are benign tumours arising from embryonal fat cells. These rare tumours essentially occur in infancy and early childhood. The males are affected more than females often in the ratio of 3∶1. These tumours usually arise in extremities. The involvement of neck is rare with only 10 cases reported so far in English literature. We herein report lipoblastoma of the neck in a 3 year old girl.     

Liposarcoma of hepatic hilum in childhood: report of a case and review of the literature

Liposarcoma in childhood has seldom been documented. The rare occurrence of this tumor has resulted in a lack of information about its natural history, prognosis, and management. The differential diagnosis with lipoblastomatosis is obligatory. A 2 year 4 month-old white male child presented at the Hospital das Clinicas of Medical School of Ribeir?o Preto, University of S?o Paulo, with fever, jaundice, and coluria secondary to a tumoral mass of the hepatic hilum causing obstruction of the biliary tree. Histologic and immunohistochemical study at autopsy disclosed a liposarcoma. A literature review found 64 other reported cases. Special attention was given to age, sex, anatomic localization, and histologic aspects of the literature cases. Liposarcoma involving the hepatic hilum and causing obstruction of the biliary tree in childhood was not previously reported in the literature.     

Tumour-like inflammatory abdominal conditions in children.

The presence of a tumour, poor general condition, features of anaemia, increased erythrocyte sedimentation rates and imaging suggesting malignancy were the common features in 4 different tumour-like abdominal conditions that are extremely rare in childhood. These conditions included: extensive retroperitoneal tumour with rib involvement that turned out to be an inflammatory lesion caused by Actinomyces in a 12-year-old girl; multi-loculated tumour of the mesentery/ovary caused by mesenteric lymphadenopathy in the course of a Salmonella enteritidis infection in a 2.5-year-old girl; tumour of the VII - VIII hepatic segments that turned out to be the focus of granuloma in the course of lambliasis in a 5.5-year-old boy with a history of purulent neck lymphadenopathy and a final suspicion of immunocompromise; and a multi-loculated tumour of the small pelvis and inguinal area that turned out to be an abscess of the iliopsoas muscle in a 16-year-old boy. Apart from the imaging, the lesions required cytological examination of the material harvested by fine-needle biopsies (liver tumour) or histopathological investigations (retroperitoneal tumour, mesenteric/ovarian tumour, liver tumour and--on second surgery--the pelvic tumour) and/or bacteriological examination (all cases), serological examination (liver tumour and mesenteric/ovarian tumour), protozoal investigation (liver tumour), and measurement of AFP levels (mesenteric/ovarian tumour). Surgical treatment (retroperitoneal tumour, mesenteric/ovarian tumour and tumour of the small pelvis) and guided antibiotic therapy (all cases including 15 weeks of antibiotics in the first case) allowed complete recovery in 3 patients (actinomycosis, mesenteric lymphadenopathy, abscess of the iliopsoas muscle). Antibiotic and antiprotozoal therapy cured the granulomatous hepatitis; however this patient tended to develop severe right-sided pleural/pulmonary changes (the child was referred for further diagnosis with suspicion of immunocompromise).     

Chest wall lipoblastomatosis in a 2-year-old girl: a case report and literature review

Lipoblastoma is an uncommon tumor of adipose tissue that usually occurs in infancy and early childhood. They predominantly locate in the extremities, but are less frequently found in the head and neck region, trunk and various other locations. The most common sign is a rapidly growing mass. In spite of their potential for local invasion and rapid growth, they are benign tumors and have no distant metastasis. Although more than 180 cases of lipoblastoma distributed over various parts of the body have been reported, only nine cases were located in the thoracic wall. We present the case of a two-year-old girl with lipoblastomatosis of the chest wall that was identified by histologic examination. In this article, the English literature on this disorder is briefly reviewed.     

Benign breast lesions in adolescent girls: an overview with a case report

A wide spectrum of breast disorders occurs in the paediatric and adolescent age groups, but malignant disease is very rare. The relative frequencies of these conditions and their natural history differ substantially from those of adult patients. The gross findings may be very deceptive and mislead the clinician until a histopathological diagnosis is made. We report a case in an adolescent girl that was initially diagnosed and treated as fibroadenoma until a histological assessment proved it to be a phyllodes tumour with malignant potential.     

Thoracic malignant peripheral nerve sheath tumour mimicking a pleural tumour: a rare pedunculated appearance

A malignant peripheral nerve sheath tumour (MPNST) generally occurs in adults and often in patients with neurofibromatosis-1 (NF-1). We present a rare case of a huge thoracic MPNST arising from the intercostal nerve in a 12-year-old girl without NF-1. In addition to the unusual occurrence in a child without NF-1, MRI demonstrated a unique pedunculated appearance mimicking a pleural tumour. In this report, we present the CT and MRI findings of our case, together with the histopathological findings, and review previous reports.     

Pediatric diffuse lipoblastomatosis of the foot -- a case report and review of the literature.

Diffuse lipoblastomatosis is a rare lipomatous tumor of infancy that derives from fetal-embryonal fat. It usually affects infants and children and presents as a superficial mass that extends from the subcutis to the underlying muscle in the upper or lower extremities. In spite of its benign nature, the tumor may behave in a locally aggressive manner and invade the surrounding tissues. A case of isolated diffuse lipoblastomatosis of a 5-year-old boy in the plantar aspect of his right foot that has not been documented in that area before is described. The clinical and radiological presentation and histologic evaluation of diffuse lipoblastomatosis are discussed, in order to make a differential diagnosis between this rare tumor and other soft tissue tumors. In addition, the treatment principles of the tumor are described. This case demonstrates that diffuse lipoblastomatosis can be difficult to diagnose without histologic evaluation and, once diagnosed, should be treated by adequate surgical excision in order to prevent recurrence.     

Primary pleomorphic liposarcoma of bone in an adolescent: imaging features of a rare entity

We report a rare case of a primary osseous pleomorphic liposarcoma of the distal femur in a 13-year-old boy. Primary liposarcoma of bone is a very rare malignant tumour originating from primitive mesenchymal cells rather than mature adipose tissue. Pleomorphic liposarcoma is the least common of the eight known histological subtypes in the WHO classification. The entity is not previously reported in children. This is the third reported case of pleomorphic liposarcoma of the bone, and the first reported case presenting in adolescence. We describe the computed tomography and magnetic resonance imaging features of this rare bony tumour.     

Female pseudo-hermaphroditism due to an adrenal tumour in the mother

This is a report of a case of almost complete external virilisation of a girl due to an adrenocortical adenoma of the mother. The tumour, though present for many years, caused only mild symptoms in the mother; therefore detection followed only after birth of the virilised girl.     

Aggressive Angiomyxoma of the Vulva in an 11-Year-old Girl

A rare case of aggressive angiomyxoma involving the vulva of an 11-year-old girl is reported. The pathologic features that distinguish this lesion from other myxoid tumors or tumorlike conditions of the perineum and vulva in children are discussed.     

Ruptured middle cerebral artery aneurysm with intramural myxoid degeneration in a child

A 9-year-old girl presented with a subarachnoid hemorrhage. Cerebral angiography showed a saccular aneurysm arising from the horizontal portion of the right middle cerebral artery. The aneurysm was successfully clipped, and the dome of the aneurysm was excised for pathological study. Histological examination of the aneurysm wall showed that the entire thickness of the wall showed an increased myxoid degeneration. No dissection was present. Most intracranial aneurysms in childhood are believed to be of the saccular type similar to that in adults, but the pathogenesis of the aneurysm formation remains controversial. Myxoid degeneration may cause intracranial saccular aneurysm with eventual rupture, even in the absence of dissection. This is the first case reported of a ruptured saccular aneurysm caused by myxoid degeneration in a child. The possible pathophysiology is discussed.     

Germline mutation in the <Emphasis Type="Italic">STK11</Emphasis> gene in a girl with an ovarian Sertoli cell tumour

Introduction An ovarian Sertoli cell tumour was detected in a 4-year-old girl with gonadotrophin-independent precocious puberty. Such gonadal tumours can be associated with Peutz-Jeghers syndrome, caused by mutations in the STK11 gene. We have therefore sequenced the STK11 gene. Results Mutation analysis revealed a nonsense mutation in exon 1 (c.130A>T;p.Lys44X) of the SKT11 gene, which resulted in a truncated, inactive protein. The mutation was heterozygous in patient’s lymphocytes and almost homozygous in the tumour, indicating loss of heterozygosity. Conclusion This is the first report of a STK11 germline mutation in a girl with an ovarian Sertoli cell tumour. It remains to be shown whether this particular mutation predisposes the patient to the development of ovarian tumours.     

Lipoblastoma and lipoblastomatosis in children.

Lipoblastoma and lipoblastomatosis are rare mesenchymal benign tumors of embryonal white fat. They are found primarily in children less than 5 years of age. This tumor presents in two forms: a localized well-circumscribed lesion (lipoblastoma), or a multicentric type (lipoblastomatosis). The authors presents three cases, two of them with a buttock lesion, the last with a paravertebral one. It is recommended a complete but conservative excision of the tumor because there is a natural tendency to involution, although in the first year of life a local reexcision for recurrence is sometimes described.     

Magnetic resonance appearance in a case of lipoblastomatosis

Lipoblastoma-lipoblastomatosis represents a rare, benign tumorous proliferation of adipocytes and their mesenchymal precursor cells. Seen almost exclusively in early childhood, it should be considered in the differential diagnosis of any rapidly expanding soft-tissue mass. We present a case of lipoblastomatosis and its magnetic resonance appearance, which has not been previously described.     

Mesenchymal hamartomas of the liver may be associated with increased serum alpha foetoprotein concentrations and mimic hepatoblastomas.

A mesenchymal hamartoma (MH) of the liver in a seven-month-old girl was associated with slightly elevated alpha fetoprotein (AFP) concentrations (320 microg/L, normal < 25 after six months of age). Hepatocytes were abundant at the periphery of the tumour at histopathological examination. These were slightly atypical and expressed AFP immunohistochemically. In two other girls, aged 14 months and two months respectively, with MH and increased serum AFP concentrations (320 microg/L and 7500 microg/L, respectively), hepatoblastomas were misdiagnosed preoperatively. MH of the liver with increased serum AFP concentrations may thus mimic hepatoblastoma radiologically if cysts are lacking, and foetal hepatoblastoma pathologically if a biopsy samples only the peripheral hepatocellular component of the MH.