Ultrasound performance in pediatric deep soft-tissue tumor characterization.

This study investigated the performance of ultrasonography in diagnosing deep soft-tissue tumors and tumor-like lesions in children with histological results. Demographic information and ultrasound characteristics of benign and malignant masses were statistically analyzed. Three radiologists (Radiologists 1, 2, and 3) independently reviewed the ultrasonography studies while being blinded to the medical history and other imaging findings. The 82 lesions included in the study were histopathologically classified as malignant (n = 25) or benign (n = 57). No statistically significant differences were observed between the benign and malignant subgroups regarding age (p = 0.059), sex (p = 1.0), disease course (p = 0.812), presence or absence of symptoms (p = 0.534), maximum diameter (p = 0.359), margin (p = 1.0), calcification (p = 0.057), or blood Adler type (p = 0.563). However, statistically significant differences were observed between the benign and malignant subgroups in terms of isolated or Multiple occurrences (p < 0.001), history of malignancy (p < 0.001), shape (p < 0.001), and echogenicity (p < 0.001). Parameters such as tumor shape (p = 0.042, OR = 6.222), single or multiple occurrences (p = 0.008, OR = 17.000), and history of malignancy (p = 0.038, OR = 13.962) were identified as independent predictors of benign and malignant tumors. The diagnostic sensitivities evaluated by the three radiologists were 68.0%, 72.0%, 96.0%, respectively, while the specificities were 77.2%, 82.5%, 77.2%, respectively. Ultrasound demonstrates good performance in the diagnosis of benign deep lesions such as hemangiomas/venous malformation and adipocytic tumors. Multiple irregular morphologies and a history of malignancy were identified as independent risk factors for malignant masses. The experience of radiologists in recognizing specific tumors is important. Careful attention should be paid to masses with ambiguous ultrasound features, as well as small lesions.

What's new in adipocytic neoplasia?

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.

Image-Guided Core Needle Biopsy of Adipocytic Tumors: Diagnostic Accuracy and Concordance With Final Surgical Pathology.

OBJECTIVE. Diagnostic accuracy of core needle biopsy (CNB) for adipocytic tumors can be low because of sampling error from these often large, heterogeneous lesions. The purpose of this study was to evaluate the diagnostic accuracy of image-guided CNB for various adipocytic tumors in comparison with excisional pathology. MATERIALS AND METHODS. Adipocytic tumors (n = 77) of all adult patients undergoing image-guided CNB and subsequent surgical excision of an adipocytic tumor at a tertiary referral center between 2005 and 2019 were studied. To determine concordance, we compared pathologic diagnoses based on CNB to the reference standard of pathologic diagnoses after surgical excision. Tumors were divided into three categories (benign lipomatous tumors [lipoma, lipoma variants, hibernomas], atypical lipomatous tumors [ALTs] or well-differentiated liposarcomas [WDLs], and higher grade liposarcomas [myxoid, dedifferentiated, pleomorphic]), and diagnostic accuracy was calculated for each category. RESULTS. In 73 of 77 adipocytic tumors (95%), diagnosis at CNB and diagnosis after excision were concordant. Accuracy of diagnosis was poorer for ALTs and WDLs than for the other two categories, and the difference was statistically significant (p < .002). For the 29 benign lipomatous tumors and the 27 higher-grade liposarcomas, diagnoses at CNB and after excision were concordant in all cases (100%). Seventeen of the 21 tumors (81%) diagnosed as ALTs or WDLs at CNB had a concordant diagnosis after excision; four of the 21 were upgraded (dedifferentiated liposarcoma, n = 3; myxoid liposarcoma, n = 1). CONCLUSION. CNB provides high diagnostic accuracy for adipocytic tumors, particularly for benign lipomatous tumors and higher grade liposarcomas. However, though still high at 81%, diagnostic accuracy of CNB is not as high for tumors diagnosed as ALTs or WDLs. Awareness of this limitation is important when determining management, particularly of cases of ALT or WDL for which surgery is not planned.

Lipomatous hypertrophy of the interventricular septum.

BACKGROUND AND AIMS: Lipomatous hypertrophy of the interatrial septum is an uncommon type of cardiac adipose tumor. It is extremely rare for these lesions to be located in the interventricular septum. METHODS: We report this case of incidentally diagnosed lipomatous hypertrophy of the interventricular septum with right ventricular outflow obstruction which caused minimal symptoms and Wolff-Parkinson-White pattern on EKG. CONCLUSION: We also discuss the diagnosis and management of this condition.

A Diagnostic Dilemma of a Subcutaneous Hibernoma: Case Report.

BACKGROUND Subcutaneous lipomatous lesions are commonly encountered in clinical practice. Hibernoma is a rare subtype of the benign lipomatous tumor, representing 1% of all types. It poses a challenge due to the difficulty of differentiating it from atypical lipomatous lesions and liposarcomas, which may lead to possible inappropriate diagnosis and management. CASE REPORT We report a case of a 33-year-old male who presented with a right upper thigh swelling noticed some time prior to presentation that had started increasing in size prior to his presentation. The magnetic resonance imaging (MRI) was unable to rule out atypical lipomatous tumor and liposarcoma. An ultrasound-guided biopsy gave a diagnosis of hibernoma. The patient underwent a wide local excision, which confirmed the diagnosis of hibernoma. At the 3-year follow-up, there was no evidence of local recurrence. CONCLUSIONS Hibernoma has been reported in the literature to be discovered incidentally by radiological imaging done for other causes. However, hibernomas raise a diagnostic challenge because in most imaging modalities they are indistinguishable from other malignant tumors. A wide local excision with negative margins is key to resolving the diagnostic dilemma that a hibernoma presents, as it will provide a definitive diagnosis differentiating it from other lipomatous lesions and prevent any future recurrence. Caution is advised when dealing with lipomatous lesions, as they often overlap with malignancy. Furthermore, an MRI should be done for any subcutaneous lesion that is larger than 5 cm or shows recent growth. A biopsy can resolve the diagnostic dilemma with caution to the hypervascularity of such tumors.

From head and neck lipoma to liposarcoma: a wide spectrum of differential diagnoses and their therapeutic implications.

PURPOSE OF REVIEW: To overview the array of differential diagnoses among lipomatous tumours of the head and neck with special focus on their evaluation, three-dimensional assessment, and their available treatments. RECENT FINDINGS: The head and neck is an infrequent localization for lipomatous tumours, even though they represent the most common mesenchymal lesions. Lipoma, spindle cell/pleomorphic lipoma (SC/PL), atypical lipomatous tumour/well differentiated liposarcoma (ALT/WDLPS), de-differentiated liposarcoma (DDLPS), myxoid liposarcoma (MLPS), and pleomorphic liposarcoma (PLPS) are the most distinctive histotypes. Lipoma and SC/PL present alterations of chromosomes 12 and 13, ALT/WDLPS and DDLPS both show the Mouse Double Minute 2 amplification, whereas MLPS presents a CHOP gene fusion. Diagnosis of PLPS is purely morphological as there is no pathognomonic genetic alteration identified to date. Radiological assessment can be challenging for the presence of nonadipose components within the lesion. Surgery is the mainstay of treatment, even though achieving true radicality in terms of a large cuff of healthy tissue surrounding the tumour is not always realistic in the head and neck. Adjuvant radiation, eventually in combination with systemic chemotherapy, has been shown to improve overall survival in patients with positive margins, high-grade, deep, and more than 5 cm lesions. Further studies should be aimed at the evaluation of the role of hadron therapy, as well as targeted drugs against overexpressed proteins. SUMMARY: Adequate differential diagnosis of the histotypes collected under the umbrella term of head and neck lipomatous tumours plays a fundamental role in treatment and follow-up of these lesions and requires specific expertise with referral to high-volume centres.

[Tumors with predominantly adipocytic morphology]. / Tumoren mit prädominant adipozytärer Morphologie.

More than 20% of soft-tissue tumors belong to the group of adipocytic neoplasms. Difficulties may occur in the differential diagnosis of lipomas versus atypical lipomatous tumors/well-differentiated liposarcomas, in the distinction of dedifferentiated liposarcomas from other soft-tissue sarcoma entities and in the detailed subtyping of liposarcomas. Especially in biopsies, the correct diagnosis and grading may be hampered due to limited tissue. Because of the ever-increasing molecular-pathological knowledge of soft-tissue tumors and the rising distribution of molecular diagnostic assays in institutes of pathology, differential diagnosis has been facilitated, as more than 90% of adipocytic tumors carry more or less specific genomic alterations. In the following, the most important subtypes of adipocytic tumors are described morphologically and genomically.

A contemporary review of myxoid adipocytic tumors.

Myxoid adipocytic tumors encompass a broad heterogeneous group of benign and malignant adipocytic tumors, which are typically myxoid (e.g. myxoid liposarcoma, lipoblastoma and lipoblastoma-like tumor of the vulva) or may occasionally appear predominantly myxoid (e.g. pleomorphic liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, chondroid lipoma, spindle cell/pleomorphic lipoma, atypical spindle cell lipomatous tumor and atypical pleomorphic lipomatous tumor). There have been significant advances in recent years in classification and understanding the pathogenesis of adipocytic tumors, based on the correlation of histologic, immunohistochemical, and cytogenetic/molecular findings. Despite these advances, the morphologic diagnosis and accurate classification of a myxoid adipocytic tumor can be challenging due to major morphologic overlap between myxoid adipocytic and non-adipocytic tumors. This article will provide a review on the currently known morphological, immunohistochemical and molecular features of myxoid adipocytic tumors and their differential diagnosis.

Adipocytic tumors in Children: A contemporary review.

Adipocytic neoplasms in the pediatric population demonstrate a different histologic spectrum and frequency than in adults. The vast majority of these tumors are benign, with lipoma being the most common entity. The identification of signature cytogenetic and molecular alterations for certain lesions, such as PLAG1 gene rearrangement in lipoblastoma and FUS-DDIT3 fusion in myxoid liposarcoma, has been helpful in approaching these neoplasms and aiding in confirming the diagnosis. Furthermore, it is important for pathologists to recognize that adipocytic neoplasms may be associated with different syndromes with potential impact in managing such patients. This review provides a summary of the clinical pictures, histologic characteristics, molecular alterations, differential diagnoses, and syndromic associations of the commonly encountered fatty tumors in children.

Extranodal extension of lymph node metastasis influences recurrence in prostate cancer: a systematic review and meta-analysis.

The extranodal extension (ENE) of nodal metastasis involves the extension of neoplastic cells through the lymph node capsule into the perinodal adipose tissue. This morphological feature has recently been indicated as an important prognostic factor in various cancer types, but its role in prostate cancer is still unclear. We aimed to clarify it, performing the first meta-analysis on this issue, comparing prognostic parameters in surgically treated, node-positive prostate cancer patients with (ENE+) vs. without (ENE-) ENE. Data were summarized using risk ratios (RRs) for number of deaths/recurrences and hazard ratios (HRs), with 95% confidence intervals (CI), for the time-dependent risk related to ENE positivity. Six studies followed-up 1,113 patients with N1 prostate cancer (658 ENE+ vs. 455 ENE-) for a median of 83 months. The presence of ENE was associated with a significantly higher risk of biochemical recurrence (RR = 1.15; 95%CI: 1.03-1.28; I2 = 0%; HR = 1.40, 95%CI: 1.12-1.74; I2 = 0%) and "global" (biochemical recurrence and distant metastasis) recurrence (RR = 1.15; 95%CI: 1.04-1.28; I2 = 0%; HR = 1.41, 95%CI: 1.14-1.74; I2 = 0%). ENE emerged as a potential prognostic moderator, earmarking a subgroup of patients at higher risk of recurrence. It may be considered for the prognostic stratification of metastatic patients. New possible therapeutic approaches may explore more in depth this prognostic parameter.

Gran lipoma vulvar. Presentación de caso / Large vulvar lipoma. A case Presentation

Los lipomas son los tumores mesenquimatosos benignos más comunes. Están compuestos de células adiposas maduras, generalmente asintomáticos y de crecimiento lento. Se identifican con mayor frecuencia en individuos obesos y del sexo femenino. La localización en la vulva es rara. Presentamos un caso clínico atendido en el Centro de Diagnóstico Integral “Dr. Alan Delfín¨, Estado Trujillo, Venezuela. La paciente de 19 años acudió con un tumor de partes blandas lobulado, pediculado, no doloroso en región vulvar, de 23 cm de longitud. Se realizó tratamiento quirúrgico con exéresis y biopsia. El diagnóstico de lipoma fue confirmado por examen anatomopatológico.(AU)

Lipomas are the most common benign mesenchymal tumor. They are componed of mature fat cells, usually are asymptomatic and slow-growing. They are more frequently identified in obese and female individuals. Vulva localizations are rare. A clinical case treated at ¨Dr. Alan Delfín¨ Integral Diagnosis Center, Trujillo State, Venezuela. The patient came to consultation presenting a pedunculated, lobulated, painless soft tissue tumor, in vulvar region, 23 cm long. The patient underwent surgical treatment; exeresis and biopsy of lesion were performed. The anatomopathological exam confirmed the diagnosis of lipoma.

Tumor adiposo con síntomas de alarma / Adipose tumor with alarm signs

La presencia de una tumoración en tejidos blandos es un motivo de consulta frecuente en Atención Primaria. Una historia clínica completa y una adecuada exploración física son fundamentales para detectar posibles lesiones malignas. Aunque los sarcomas de tejidos blandos pueden aparecer en cualquier lugar del cuerpo, la mayoría se presenta en extremidades o el abdomen. Son un grupo heterogéneo, poco frecuente, de tumores mesenquimales malignos, siendo los liposarcomas los sarcomas más frecuentes del adulto. La cirugía habitualmente es curativa, sola o combinada con radioterapia, con o sin quimioterapia. Preservar la funcionalidad del miembro es el principal objetivo del tratamiento. La detección precoz puede evitar al paciente una cirugía mayor e importantes complicaciones, por lo que debemos estar atentos a los signos clínicos de alarma. Presentamos el caso de una mujer de 54 años con un liposarcoma bien diferenciado, en cara lateral externa del muslo izquierdo (AU)

The presence of a mass involving soft tissues is a frequent reason of consultation in primary health care. A complete clinical history and an appropriate physical examination are fundamental in order to detect possible malignant lesions. Although soft-tissue sarcomas can arise anywhere in the body, the majority appear in the limbs or within the abdomen. Soft-tissue sarcomas are a heterogeneous group of rare malignant mesenchymal tumors, and liposarcomas are the most common sarcoma in adult life. Surgery is often curative, alone or in combination with radiotherapy, with or without chemotherapy, and preserving limb functionality is the goal of treatment. The relevance of early detection could save patients major surgery and serious complications, that is why clinical awareness of the alarm signs should be kept in mind. We present the case of a 54-year-old female with a well-differentiated liposarcoma involving the lateral aspect of the left thigh (AU)

Subconjunctival Herniated Orbital Fat Mimicking Adipocytic Neoplasm.

PURPOSE: To describe and discuss rare and benign conditions of subconjunctival orbital fat herniation that may mimic adipocytic neoplasm. METHODS: Sixteen eyes of 13 patients with subconjunctival orbital fat herniation were included. They all underwent transconjunctival excision owing to cosmesis, discomfort, or suspicion of malignancy. Histopathologic examination, postoperative complications, and recurrent conditions were analyzed. RESULTS: Eleven male and two female patients were included. The lesion was unilateral in 10 and bilateral in 3 cases. Excision was performed via conjunctival wound and removing the prolapsed orbital fat. The conjunctiva was then closed with two to three interrupted sutures. All the histopathologic specimens revealed Lochkern cells, floret cells, and mature adipocytes separated by fibrovascular septae without hyperchromatic cells, consistent with subconjunctival herniated orbital fat. All the patients were treated successfully with transconjunctival excision without recurrence at an average follow-up of 10.6 months (range, 6 to 16 months). CONCLUSIONS: Prolapse of subconjunctival orbital fat is an uncommon entity of intraorbital masses and may mimic adipocytic neoplasm. It is usually associated with a dehiscence in the Tenon capsule. Surgical excision is indicated and pathologic evaluation is necessary if any malignancy is suspected.

Lipomatous variant of angiomyofibroblastoma involving the vulva: report of 3 cases of an extremely rare neoplasm with discussion of the differential diagnosis.

We report 3 cases of the extremely rare lipomatous variant of angiomyofibroblastoma (AMF) involving the vulva of women aged 35, 45, and 47. The lesions ranged in size from 2.5 to 12 cm in maximum dimension and the largest had a gross "fatty" appearance. The percentage of adipose tissue was approximately 50% in 1 case and over 90% in the other 2. In all the cases, there was a background of typical AMF with bland spindled and epithelioid cells arranged around blood vessels, although in the cases with >90% adipose tissue, this was subtle and diffusely interspersed with the adipose tissue. In all the cases, the spindled and epithelioid cells were positive with estrogen receptor. Given the morphologic features, misdiagnosis as a lipomatous neoplasm is likely, especially in cases with a minor component of typical AMF. We review the literature on lipomatous AMF and discuss the differential diagnosis.

[Adipocytic tumors]. / Tumeurs adipeuses.

Adipocytic tumors are the most common mesenchymal neoplasms, liposarcoma accounting for approximately 20% of soft tissue sarcomas. The differential diagnosis between benign and malignant tumors is often problematic and represents a significant proportion of consultation cases. The goal of this article is to review liposarcoma subtypes, the main benign adipocytic neoplasms: lipoblastoma, hibernoma, spindle/pleomorphic cell lipoma, chondroid lipoma, as well as non adipocytic neoplasms with a lipomatous component such as lipomatous solitary fibrous tumor, emphasizing on practical differential diagnosis issues, and immunohistochemical and molecular tools allowing their resolution.

Real-time polymerase chain reaction analysis of MDM2 and CDK4 expression using total RNA from core-needle biopsies is useful for diagnosing adipocytic tumors.

BACKGROUND: Diagnosing adipocytic tumors can be challenging because it is often difficult to morphologically distinguish between benign, intermediate and malignant adipocytic tumors, and other sarcomas that are histologically similar. Recently, a number of tumor-specific chromosome translocations and associated fusion genes have been identified in adipocytic tumors and atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDL), which have a supernumerary ring and/or giant chromosome marker with amplified sequences of the MDM2 and CDK4 genes. The purpose of this study was to investigate whether quantitative real-time polymerase chain reaction (PCR) could be used to amplify MDM2 and CDK4 from total RNA samples obtained from core-needle biopsy sections for the diagnosis of ALT/WDL. METHODS: A series of lipoma (n = 124) and ALT/WDL (n = 44) cases were analyzed for cytogenetic analysis and lipoma fusion genes, as well as for MDM2 and CDK4 expression by real-time PCR. Moreover, the expression of MDM2 and CDK4 in whole tissue sections was compared with that in core-needle biopsy sections of the same tumor in order to determine whether real-time PCR could be used to distinguish ALT/WDL from lipoma at the preoperative stage. RESULTS: In whole tissue sections, the medians for MDM2 and CDK4 expression in ALT/WDL were higher than those in the lipomas (P < 0.05). Moreover, karyotype subdivisions with rings and/or giant chromosomes had higher MDM2 and CDK4 expression levels compared to karyotypes with 12q13-15 rearrangements, other abnormal karyotypes, and normal karyotypes (P < 0.05). On the other hand, MDM2 and CDK4 expression levels in core-needle biopsy sections were similar to those in whole-tissue sections (MDM2: P = 0.6, CDK4: P = 0.8, Wilcoxon signed-rank test). CONCLUSION: Quantitative real-time PCR of total RNA can be used to evaluate the MDM2 and CDK4 expression levels in core-needle biopsies and may be useful for distinguishing ALT/WDL from adipocytic tumors. Thus, total RNA from core-needle biopsy sections may have potential as a routine diagnostic tool for other tumors where gene overexpression is a feature of the tumor.

Absence of chromosomal abnormalities in herniated orbital fat.

AIMS: Lipomatous tumours of the orbit are rare, and can sometimes be difficult to characterize. Herniated orbital fat is thought to be a reactive process, but its presentation can mimic a lipomatous tumour such as an atypical lipomatous tumour or spindle cell/pleomorphic lipoma. Genetic studies to determine if it is indeed a reactive process rather than an adipocytic neoplasm have not been performed. METHODS AND RESULTS: Four samples of herniated orbital fat were reviewed clinically, histopathologically and immunohistochemically. Array comparative genomic hybridization (aCGH) was used to search for genome-wide copy number alterations within the tumours. Histological evaluation revealed that all four tumours contained collections of adipocytes surrounded by fibrous septae. Lochkern cells and floret-like multinucleated giant cells were present, consistent with herniated orbital fat. CD34 was positive in all tumours. Staining for MDM2 and CDK4 was negative. ACGH analysis demonstrated no copy number alterations. CONCLUSIONS: Herniated orbital fat may share some histopathological features with lipoma and atypical lipomatous tumour, but the absence of copy number gains or losses is consistent with the impression that herniated orbital fat is a reactive process. Genetic analysis may be another method to help differentiate herniated orbital fat from a lipomatous orbital tumour when the diagnosis is in question.