Atypical spindle cell lipomatous tumor/atypical pleomorphic lipomatous tumor and atypical mammary-type myofibroblastoma: clinicopathological, immunohistochemical, and multiplex fluorescence in situ hybridization analyses.
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SUBMITTER: Zhang Z
PROVIDER: S-EPMC8509905 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:AimsWell-differentiated lipomatous neoplasms encompass a broad spectrum of benign and malignant tumours, many of which are characterised by recurrent genetic abnormalities. Although a key regulator of p53 signalling, MDM2, is characteristically amplified in well-differentiated liposarcoma, recurrent abnormalities of p53 itself have not been reported in well-differentiated adipocytic neoplasms. Here, we present a series of well-differentiated lipomatous tumours characterised by p53 alterations and histological features in keeping with atypical pleomorphic lipomatous tumour (APLT).Methods and resultsWe reviewed the morphological, immunohistochemical and molecular genetic features of eight lipomatous tumours with p53 alterations. Four tumours arose in the thigh, and one case each arose in the shoulder, calf, upper back, and subclavicular regions; six tumours were deep/subfascial and two were subcutaneous. Relevant clinical history included two patients with Li-Fraumeni syndrome. Morphologically, all cases showed well-differentiated adipocytes with prominent nuclear pleomorphism, limited mitotic activity, and no tumour cell necrosis. All cases were negative for MDM2 overexpression and amplification as determined with immunohistochemistry and fluorescence in-situ hybridisation, respectively. Immunohistochemically, p16 was diffusely overexpressed in all cases; seven tumours (88%) showed abnormal loss of Rb and p53. TP53 mutation or deletion was identified in four of six tumours evaluated with exon-targeted hybrid capture-based massively parallel sequencing; RB1 mutation or deletion was present in five of six cases.ConclusionsWe present a series of eight well-differentiated lipomatous neoplasms characterised by p53 alterations in addition to Rb loss and histological features of APLT. These findings suggest that impaired p53 signalling may contribute to the pathogenesis of APLT in a subset of cases.
| S-EPMC8860877 | biostudies-literature
Project description:IntroductionAtypical spindle cell lipomatous tumor (ASPLT), a separate entity for the group of benign/low grade adipocytic neoplasm that is characterized by adipocyte adequacy and the presence of lipoblast-like cells and spindle cells at varying degrees.Case presentationHere, we report a rare case of 60 years old male with atypical spindle cell lipomatous tumor in the anterior abdominal wall.DiscussionHistopathology is the gold standard for establishing the diagnosis and grade of soft tissue tumor and consistent radiology-pathology correlation is essential to avoid any diagnostic pitfalls [1]. Ultrasound is preferred as an initial investigation for superficially located lesions.ConclusionASPLT show a wide variety of microscopic features, and differential diagnosis is important and difficult. Recognition of morphologic clues and immunohistochemistry/molecular tests to confirm the diagnosis.
| S-EPMC9422173 | biostudies-literature
Project description:IntroductionPleomorphic adenoma is the most common benign neoplasm of the salivary glands. Extensive lipomatous involvement of the tumor is, however, a very rare finding.Case reportHerein, a rare case of lipomatous pleomorphic adenoma arising in the parotid gland of a 14-year-old Japanese woman is presented.ConclusionThis is the sixth case of lipomatous pleomorphic adenoma in the English literature. Recognition of this rare subtype of pleomorphic adenoma is important for clinical diagnosis and management. On CT scan, it may not be detected possibly due to the extensive fatty component.
| S-EPMC2710317 | biostudies-literature
Project description:Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are rare tumors developing in chronically sun-exposed skin. Clinicopathological features are similar, but they differ in prognosis, while PDS has a more aggressive course with a higher risk for local recurrence and metastases. In current clinical practice, they are diagnosed by exclusion using immunohistochemistry. Thus, stringent diagnostic criteria and correct differentiation are critical in management and treatment for optimal outcomes. This retrospective single-center study collected clinicopathological data and tumor samples of 10 AFX and 18 PDS. Extracted genomic DNA from tumor specimens was analyzed by a next-generation sequencing (NGS) platform (FoundationOne-CDx™). Among 65 identified mutations, TP53 inactivating mutations were observed in all tumor specimens. In both AFX and PDS, the known pathogenic gene alterations in CDKN2A, TERT promoter, and NOTCH1 were frequently present, along with high mutational burden and stable Micro-Satellite Instability status. The mutational profiles differed only in ASXL1, which was only present in AFX. Further differences were identified in likely pathogenic and unknown gene alterations. Similarities in their genomic signatures could help to distinguish them from other malignancies, but they are not distinguishable between each other using the FoundationOne-CDx™ NGS panel. Therefore, histological criteria to determine diagnosis remain valid. For further insight, performing deep tumor profiling may be necessary.
| S-EPMC8303615 | biostudies-literature
Project description:BackgroundLipomatous hypertrophy of the interatrial septum (LHIAS) is a common finding on transthoracic echocardiogram (TTE). Occasionally, the appearance of LHIAS is atypical and multimodality imaging is helpful to make the diagnosis. We present a case of atypical LHIAS to highlight the potential aetiologies for an interatrial septal mass and review features on multimodality imaging that help decrease uncertainty and establish a diagnosis.Case summaryA 64-year-old man with a history of hypertension, diabetes mellitus, and coronary artery disease with multiple percutaneous coronary interventions presented to the emergency room with chest pain. Transthoracic echocardiogram showed a homogenous echo-dense, intracardiac mass present within the interatrial septum. Computed tomography (CT) angiogram of the chest showed a homogenous mass similar in radiodensity to extracardiac and pericardial fat. Cardiac magnetic resonance (CMR) confirmed LHIAS by homogenous signal that was nulled on fat suppression images.DiscussionThis case highlights that while most LHIAS has the standard 'dumbbell' appearance on TTE, there are instances where it can appear more like an adherent mass prompting a wider differential. Unenhanced CT of the heart can be used to confirm LHIAS by the presence of low attenuation values for tissue. Alternatively, CMR can be used for tissue characterization and confirmation of LHIAS. Precontrast T2/T1-weighted CMR images with steady-state free precession show high signal intensity in the area of LHIAS and produce a black/hypointense boundary effect between fat and myocardium. A multimodality approach is crucial in arriving at the appropriate diagnosis using the tissue characterization capabilities of CT and CMR.
| S-EPMC7026587 | biostudies-literature
Project description:BackgroundDistinguishing between some benign lipomas (BLs), atypical lipomatous tumors (ALTs), and dedifferentiated liposarcomas (DDLs) can be challenging due to overlapping magnetic resonance imaging characteristics, and poorly understood molecular mechanisms underlying the malignant transformation of liposarcomas.PurposeTo identify metabolic biomarkers of the lipomatous tumor spectrum by examining human tissue specimens using high-resolution 1H magnetic resonance spectroscopy (MRS).Materials and methodsIn this prospective study, human tissue specimens were obtained from participants who underwent surgical resection for radiologically-indeterminate lipomatous tumors between November 2016 and May 2019. Tissue specimens were obtained from normal subcutaneous fat (n=9), BLs (n=10), ALTs (n=7) and DDLs (n=8). Extracts from specimens were examined with high-resolution MRS at 17.6T. Computational modeling of pattern recognition-based cluster analysis was utilized to identify significant differences in metabolic signatures between the lipomatous tumor types.ResultsSignificant differences between BLs and ALTs were observed for multiple metabolites, including leucine, valine, branched chain amino acids, alanine, acetate, glutamine, and formate. DDLs were distinguished from ALTs by increased glucose and lactate, and increased phosphatidylcholine. Multivariate principal component analysis showed clear clustering identifying distinct metabolic signatures of the tissue types.ConclusionMetabolic signatures identified in 1H MR spectra of lipomatous tumors provide new insights into malignant progression and metabolic targeting. The metabolic patterns identified provide the foundation of developing noninvasive MRS or PET imaging biomarkers to distinguish between BLs, ALTs, and DDLs.
| S-EPMC9500232 | biostudies-literature
Project description:BACKGROUND:Perianal Paget's disease (PPD) is rare and mostly described in clinical literature as case reports or small series. METHODS:We investigated the clinicopathologic and immunohistochemical features of PPD in a total of 13 cases retrieved from multiple academic institutions. RESULTS:The median age at diagnosis was 75 (range 50-86) years. Males were predominant with a male to female ratio of 2.25:1. Four (30.8%) cases were classified as primary PPD due to lack of synchronous or metachronous underlying malignancies, while nine (69.2%) were classified as secondary PPD with concurrent invasive adenocarcinoma (n?=?8) or tubular adenoma with high-grade dysplasia (n?=?1). Immunohistochemically, there is no differential expression of CK7 or CK20 in Paget's cells between primary and secondary PPD; however, GCDFP-15 was only positive in primary PPD (3/3 vs. 0/6, P?=?0.012), while CDX2 was only positive in secondary PPD (0/3 vs. 7/7, P?=?0.008), suggesting different cell origin. All patients received local surgical resection with or without adjuvant therapy. After a median follow-up of 47?months, one patient with secondary PPD (7.7%) died of disease progression from underlying adenocarcinoma. CONCLUSIONS:PPD occurs in elderly patients with male predominance and is frequently associated with underlying malignancies. Differential expression of CDX2 and GCDFP-15 may help distinguishing primary vs. secondary PPD, which is important for management as the presence of an underlying malignancy impacts clinical course and prognosis. Surgical excision remains the major treatment strategy for PPD. Long-term follow-up is required to monitor the disease recurrence and metastasis.
| S-EPMC7093992 | biostudies-literature
Project description:The mediastinum is a unique anatomic area containing various structures and pluripotent cells, which allow for the development of a range of tumors. We report two pediatric cases of a lipomatous tumor of the posterior mediastinum. Complete surgical excision of the mass in each was achieved through a lateral thoracotomy. Histopathologic findings showed a lipoma in one case and a lipoblastoma in the other. A lipomatous tumor in the posterior mediastinum is extremely rare and preoperative diagnosis is difficult. When an operative plan is being considered, the presence of a potentially malignant tumor should be kept in mind.
| S-EPMC4335954 | biostudies-other
Project description:Pituicytoma is a rare, poorly characterized tumor of the sellar region that is thought to be derived from neurohypophyseal pituicytes. Resection of pituicytomas is often associated with significant morbidity including diabetes insipidus and panhypopituitarism. Most of the literature on this tumor exists as small case series or case reports. Here we describe a cohort of fourteen pituicytoma resections from eleven patients. The average follow-up on these cases is 3.7?years with some patients having over 10?years of follow-up data available in the electronic medical record. Pituicytomas were frequently misdiagnosed on pre-operative imaging, and surgical resection was associated with persistent endocrine abnormalities. Histologically, the tumors showed a range of morphologies from epithelioid to spindled. All tumors were positive for TTF-1 with variable immunostaining for other markers including GFAP, EMA, S100, SSTR2A, and synaptophysin. Within this cohort are two patients with atypical pituicytomas which showed increased cellularity, pleomorphism, mitoses and elevated Ki-67 proliferation indexes when compared to non-atypical pituicytomas. Next generation sequencing performed on three tumors revealed alterations in genes involved in the MAPK pathway. Additionally, immunohistochemical staining for phosphorylated-ERK was positive in the majority of tumors. Increased awareness of the neoplastic entity and identification of targetable mutations have the potential to decrease the morbidity associated with resection of pituicytomas.
| S-EPMC6498683 | biostudies-literature
Project description:Breast acinic cell carcinoma (ACC) is a rare subtype of breast cancer. Accurate diagnosis of ACC using core needle biopsy (CNB) is pivotal for the use of effective treatments and patient prognosis. In the present study, a detailed analysis of the morphological, immunohistochemical and gene mutation features of 2 cases of ACC was performed. CNB was performed prior to surgical excision. The breast ACC in the present cases exhibited overt burrowing labyrinthine networks or 'hand-holding-hand' features. The tumor cells in both of the present cases expressed cytokeratin (CK)7, S100 and CK5/6, but were negative for p63, estrogen receptor and progesterone receptor. GATA binding protein 3 was positive in case 1 but negative in case 2. Fluorescence in situ hybridization indicated no ETS variant transcription factor 6 break-apart probe detection. Next-generation sequencing results revealed the same mutation and a similar abundance in exon 27 (NM_005120.2; c.3817G>T; p.A1273S) of the mediator of RNA polymerase II transcription, subunit 12 homolog (MED12) gene in both patients. To conclude, the findings of the present study suggested that recognition of this rare 'hand-holding-hand' structure could potentially be beneficial for avoiding patient misdiagnosis. In addition, it could be suggested that a mutation in the MED12 exon 27 was associated with the formation of a burrowing labyrinthine network or 'hand-holding-hand' feature.
| S-EPMC10831401 | biostudies-literature