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1.
Virchows Arch ; 478(3): 527-534, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32815035

RESUMEN

Hibernoma is a rare benign adipocytic tumor composed of a proliferation of brown and white fat cells varying in their proportions. The tumor may also contain fat cells resembling lipoblasts, which makes it difficult to distinguish it from atypical lipomatous tumor/well differentiated liposarcoma (ALT/WDLS). Although nuclear expressions of murine double minute 2 (MDM2) and cyclin-dependent kinase 4 (CDK4) are widely used as immunohistochemical surrogate markers for ALT/WDLS, the utility of these proteins in distinguishing between hibernoma and ALT/WDLS still remains to be elucidated. We evaluated immunohistochemical expressions of MDM2 and CDK4 in 10 hibernomas expressing uncoupling protein-1 (UCP-1), a mitochondrial protein transporter consistently expressed in brown fat cells, and lacking MDM2 gene amplification, which was analyzed by fluorescence in situ hybridization (FISH). In contrast to the data previously obtained, nuclear expression of MDM2 was observed in 100% (10/10 cases) of the hibernomas irrespective of the proportion of brown fat cells, whereas no cases were positive for CDK4. The tumors also showed almost concurrent expression of p53 (in 9/10 cases) and ubiquitin-specific-processing protease 7 (USP7) (in 10/10 cases), which deubiquitinates and stabilizes MDM2, potentially resulting in its nuclear expression without MDM2 gene amplification. MDM2 expression may thus be a diagnostic pitfall for hibernoma particularly in differentiating it from ALT/WDLS.


Asunto(s)
Adipocitos/química , Biomarcadores de Tumor/análisis , Núcleo Celular/química , Lipoma/química , Proteínas Proto-Oncogénicas c-mdm2/análisis , Adipocitos/patología , Adulto , Anciano , Biomarcadores de Tumor/genética , Núcleo Celular/patología , Quinasa 4 Dependiente de la Ciclina/análisis , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Lipoma/genética , Lipoma/patología , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Proteínas Proto-Oncogénicas c-mdm2/genética , Proteína p53 Supresora de Tumor/análisis , Peptidasa Específica de Ubiquitina 7/análisis , Proteína Desacopladora 1/análisis , Adulto Joven
2.
J Clin Pathol ; 72(8): 562-565, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31097491

RESUMEN

AIMS: This case series intends to expand currently limited knowledge regarding the existence and diagnostic significance of intramucosal fat in colorectal polyps. METHODS: Clinicopathological features of nine such polyps were reported following histopathological review, including S100 and EMA immunohistochemistry. RESULTS AND CONCLUSIONS: Such review subdivided seven polyps into three groups: (1) mucosal perineurioma/serrated polyps with fat among the perineurial stroma (three cases); (2) submucosal lipomas with adipose tissue extending into the overlying mucosa (two cases) and (3) polyps with intramucosal adipose tissue only, that is, the newly described but less-recognised entity known as intramucosal lipoma (two cases). The two remaining polyps of this series did not include submucosa but, from assessing their muscularis mucosae, were favoured to represent intramucosal lipomas. The first two phenomena are formally described for the first time by this case series. The last of these three diagnoses should prompt investigations for Cowden syndrome, but intramucosal lipomas are more often sporadic/non-syndromic.


Asunto(s)
Tejido Adiposo/patología , Pólipos del Colon/patología , Neoplasias Colorrectales/patología , Mucosa Intestinal/patología , Pólipos Intestinales/patología , Lipoma/patología , Enfermedades del Recto/patología , Anciano , Pólipos del Colon/química , Neoplasias Colorrectales/química , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica , Mucosa Intestinal/química , Pólipos Intestinales/química , Lipoma/química , Masculino , Persona de Mediana Edad , Mucina-1/análisis , Valor Predictivo de las Pruebas , Enfermedades del Recto/metabolismo , Proteínas S100/análisis
3.
Zhonghua Bing Li Xue Za Zhi ; 48(3): 225-230, 2019 Mar 08.
Artículo en Chino | MEDLINE | ID: mdl-30831650

RESUMEN

Objective: To detect the expression of New York esophageal squamous cell carcinoma antigen 1 (NY-ESO-1) in common types of mesenchymal myxoid tumors, and to investigate its significance in the diagnosis and differential diagnosis of myxoid liposarcoma. Methods: A total of 43 formalin-fixed paraffin-embedded samples of mesenchymal myxoid tumors from the Affiliated Hospital of Qingdao University and Qingdao Municipal Hospital ranging between 2010 and 2017 were selected. NY-ESO-1 expression was detected by immunohistochemical staining. DDIT3 gene status was detected by fluorescence in situ hybridization (FISH). NY-ESO-1 mRNA was detected by reverse transcription-PCR (RT-PCR). Results: Histopathology and FISH results confirmed that there were 11 cases of myxoid liposarcoma and 32 other types (including 7 cases of well-differentiated liposarcoma, 1 dedifferentiated liposarcoma, 3 lipomas, 2 lipoblastomas and 19 non-adipocytic tumors). Immunohistochemical staining showed that the positive expression propotion of NY-ESO-1 in myxoid liposarcoma was 11/11, and the positive location was the cytoplasm and nucleus of lipoblast cells. The expression intensity is higher in regions with round cell differentiation. Among the 32 cases of other mesenchymal myxoid tumors, only one well-differentiated liposarcoma showed positive immunoreactivity for NY-ESO-1. RT-PCR confirmed that 7 cases of myxoid liposarcoma (7/11) and one well-differentiated liposarcoma (1/7) had NY-ESO-1 mRNA expression. Conclusions: NY-ESO-1 is positively expressed in myxoid liposarcoma. It can be served as a useful marker for the diagnosis and differential diagnosis of myxoid liposarcoma.


Asunto(s)
Antígenos de Neoplasias/análisis , Biomarcadores de Tumor/análisis , Liposarcoma Mixoide/química , Liposarcoma Mixoide/patología , Proteínas de la Membrana/análisis , Antígenos de Neoplasias/genética , Biomarcadores de Tumor/genética , Humanos , Hibridación Fluorescente in Situ , Lipoblastoma/química , Lipoblastoma/patología , Lipoma/química , Lipoma/patología , Liposarcoma/química , Liposarcoma/patología , Liposarcoma Mixoide/diagnóstico , Proteínas de la Membrana/genética , ARN Mensajero/análisis , Factor de Transcripción CHOP/análisis , Factor de Transcripción CHOP/genética
5.
Indian J Pathol Microbiol ; 61(4): 561-563, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30303149

RESUMEN

Spindle cell lipoma (SCL), also called as pleomorphic adenoma, is a rare variant of lipoma histopathologically characterized by an admixture of mature fat cells with spindle cells and occasionally mast cells with myxoid connective tissue stroma and thick bends of birefringent collagen. Although buccal mucosa is the most common location for oral lipomas, for SCL, it is an exceedingly rare location. We report a case of an asymptomatic swelling of buccal mucosa that simulated the features of neurofibroma on histopathological examination, and the final diagnosis of SCL was made on the basis of immunohistochemical features. This is the first documentation of oral SCL using SOX10 to achieve the final diagnosis.


Asunto(s)
Antígenos CD34/análisis , Lipoma/química , Neoplasias de la Boca/química , Neurofibroma/química , Factores de Transcripción SOXE/análisis , Adulto , Diagnóstico Diferencial , Humanos , Inmunohistoquímica , Masculino , Neoplasias de la Boca/diagnóstico , Neoplasias de la Boca/patología , Neurofibroma/diagnóstico , Neurofibroma/patología
6.
Hum Pathol ; 81: 55-64, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-29940288

RESUMEN

The boundaries of the benign spindle cell stromal tumors of the breast are still confusing. This is the reason why different names are interchangeably used for the same tumor and vice versa the same name for different tumors. Therefore, we studied the immunoexpression of easily available markers, such as CD34, α-smooth muscle actin, and desmin, with the addition of STAT6, as well as the chromosome 13q14 region by fluorescence in situ hybridization analysis in a series of 19 cases of benign spindle cell stromal tumors of the breast. Based on the morphologic and immunohistochemical findings, the following histotypes were identified: (i) tumors (10/19 cases) with the characteristic morphology of myofibroblastoma and stained with vimentin, CD34, desmin, and α-smooth muscle actin; (ii) fibroblastic benign spindle cell tumors (5/19 cases) composed of fibroblast-like cells stained only with vimentin and CD34; (iii) tumors (2/19 cases) with the typical morphologic features of solitary fibrous tumor and stained with vimentin, CD34, and STAT6; (iv) 1 case of spindle cell lipoma stained with vimentin and CD34; and (v) 1 case of fibroma composed of a paucicellular, diffusely hyalinized stroma with expression of vimentin and CD34. Notably most of the tumors, with the exception of solitary fibrous tumor, showed monoallelic deletion of FOXO1. This finding supports that myofibroblastoma, fibroblastic benign spindle cell tumor, spindle cell lipoma, and fibroma of the breast are histogenetically related lesions which belong to the same tumor entity.


Asunto(s)
Biomarcadores de Tumor , Neoplasias de la Mama/química , Neoplasias de la Mama/genética , Deleción Cromosómica , Cromosomas Humanos Par 13 , Neoplasias de los Tejidos Conjuntivo y Blando/química , Neoplasias de los Tejidos Conjuntivo y Blando/genética , Factor de Transcripción STAT6/análisis , Células del Estroma/química , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Neoplasias de la Mama/clasificación , Neoplasias de la Mama/patología , Neoplasias de la Mama Masculina/química , Neoplasias de la Mama Masculina/genética , Neoplasias de la Mama Masculina/patología , Femenino , Fibroma/química , Fibroma/genética , Fibroma/patología , Predisposición Genética a la Enfermedad , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Lipoma/química , Lipoma/genética , Lipoma/patología , Masculino , Persona de Mediana Edad , Neoplasias de los Tejidos Conjuntivo y Blando/clasificación , Neoplasias de los Tejidos Conjuntivo y Blando/patología , Neoplasias de Tejido Muscular/química , Neoplasias de Tejido Muscular/genética , Neoplasias de Tejido Muscular/patología , Fenotipo , Valor Predictivo de las Pruebas , Tumores Fibrosos Solitarios/química , Tumores Fibrosos Solitarios/genética , Tumores Fibrosos Solitarios/patología , Células del Estroma/patología
7.
Pol J Pathol ; 69(1): 82-86, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29895131

RESUMEN

A woman underwent surgical intervention for a carcinoma of the ovary. In the intervention, a submucosal nodule of the ileum was found. Pathological study revealed a spindle cell lipoma (SCL). This case revealed the presence of CD34-positive spindle and stellate cells with dendritic cytoplasmic prolongations, a feature shared with dendritic fibromyxolipoma. Fluorescence in in situ hybridisation analysis showed 13q14 heterozygous deletion. Spindle cell lipoma of the small intestine has not been previously reported. Spindle cell lipoma, although rare, should be included among the benign mesenchymal lesions of the small intestine. This report extends the range of locations in which this tumour is found to arise.


Asunto(s)
Neoplasias del Íleon/patología , Hallazgos Incidentales , Lipoma/patología , Anciano , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Biopsia , Deleción Cromosómica , Cromosomas Humanos Par 13 , Femenino , Humanos , Neoplasias del Íleon/química , Neoplasias del Íleon/genética , Neoplasias del Íleon/cirugía , Inmunohistoquímica , Hibridación Fluorescente in Situ , Lipoma/química , Lipoma/genética , Lipoma/cirugía
8.
Am J Surg Pathol ; 42(7): 951-957, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29629919

RESUMEN

Hibernoma is a benign adipocytic tumor with predilection for subcutaneous tissue of the thigh, upper trunk, and neck of middle-aged adults. 11q13 rearrangement resulting in MEN1/AIP codeletion is characteristic. Hibernomas are composed, in varying proportions, of brown fat cells, mature adipocytes, and microvacuolated lipoblast-like cells. Examples containing predominantly multivacuolated lipoblast-like cells are uncommon and distinction from atypical lipomatous tumor (ALT) is important for clinical management. We herein present the clinicopathologic features of 64 hibernomas histologically mimicking ALT. MDM2 and CDK4 immunohistochemistry as well as MDM2 fluorescence in situ hybridization were performed in a subset of cases. Clinical and follow-up information were obtained from referring pathologists. Thirty-four patients were male and 30 female, with a median age of 43 years (range, 24 to 78 y). The tumors were well circumscribed and mostly deeply located (53/64 cases, 83%) with a median tumor size of 12.9 cm (range, 3.5 to 23 cm) and predilection for the thigh (42/64 cases, 66%). Histologically, large cells with prominent lipoblast-like cytoplasmic fatty vacuoles and small central nuclei were present to a prominent degree in all cases, along with mature univacuolated adipocytes and smaller numbers of large, finely vacuolated cells with eosinophilic granular cytoplasm. Nuclear atypia and mitoses were absent. None of the 39 cases tested showed CDK4 and MDM2 overexpression or MDM2 amplification. Follow-up, available for 16/64 cases (median, 47 mo; range, 1 to 165 mo), revealed no recurrences or metastases. Hibernoma mimicking ALT shows predilection for deep soft tissue, especially in the thigh. These tumors behave in a benign manner and MDM2/CDK4 negativity may be useful in excluding ALT.


Asunto(s)
Lipoma/patología , Liposarcoma/patología , Adulto , Anciano , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Biopsia , Proliferación Celular , Quinasa 4 Dependiente de la Ciclina/análisis , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Lipoma/química , Lipoma/genética , Lipoma/cirugía , Liposarcoma/química , Liposarcoma/genética , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Proteínas Proto-Oncogénicas c-mdm2/análisis , Proteínas Proto-Oncogénicas c-mdm2/genética , Carga Tumoral , Adulto Joven
9.
Zhonghua Bing Li Xue Za Zhi ; 47(3): 186-191, 2018 Mar 08.
Artículo en Chino | MEDLINE | ID: mdl-29534358

RESUMEN

Objective: To investigate the clinicopathological characteristics and differential diagnosis of lipofibromatosis. Methods: The clinicopathological features and immunohistochemical profiles in 8 cases of lipofibromatosis diagnosed at Fudan University Shanghai Cancer Center from January 2008 to June 2017 were studied. Molecular analysis of ß-catenin mutation by Sanger sequencing, NTKR1 and ETV6 rearrangements by FISH were performed. The follow up information was evaluated and the literature was reviewed. Results: There were 4 males and 4 females with a median age of 1.5 years at presentation (range, 3 months-9 years). Tumor arose in the hand (4 cases), foot (2 cases) and trunk (2 cases), manifesting as a painless subcutaneous mass. Two cases were congenital, one with tumor noted at birth and the others shortly after birth. Grossly, the tumors were poorly defined and irregularly shaped, composed predominantly of fatty tissue which was mingled with fibrous element. They ranged from 1 to 5 cm in size (mean, 2.6 cm). Microscopically, they were characterized by variably sized lobules of adipose tissue traversed by fascicles, bundles or trabeculae of proliferative fibroblasts and myofibroblasts, resembling desmoid tumor. In 2 cases, the tumor infiltrated adjacent skeletal muscles. On high power, the spindled fibroblasts and myofibroblasts had a bland appearance with very low mitotic activity (<1/10 HPF). By immunohistochemistry, they showed variable staining of α-SMA, MSA, CD34 and CD99, with negativity for ß-catenin, desmin, h-CALD, EMA, ALK, and S-100 protein. Ki-67 index was low (<2%). Molecular analysis showed no mutation of ß-catenin gene (0/3), no NTRK1 gene rearrangement (0/3) and no ETV6 gene rearrangement (0/2). Follow up information was available in 6 patients, revealed local recurrence in two and persistent disease in one. Conclusions: Lipofibromatosis is a special variant of infantile fibromatosis, which has a predilection for the distal portion of the extremities of neonates and infants and characterized by lobules of adipose tissue traversed by demoid tumor-like fibroblasts and myofibroblasts. However, it differs from desmoid tumor by harboring no mutation of ß-catenin gene. Familarity with its clinicopathological characteristics helps the distinction from its morphological mimics.


Asunto(s)
Fibroma/química , Fibroma/patología , Lipoma/química , Lipoma/patología , beta Catenina/genética , Actinas/análisis , Antígenos de Neoplasias/análisis , Niño , Preescolar , China , Desmina/análisis , Extremidades , Femenino , Fibroblastos/patología , Fibromatosis Agresiva/patología , Mano , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Lactante , Masculino , Miofibroblastos/patología , Neoplasias de Tejido Fibroso/patología , Proteínas Proto-Oncogénicas c-ets/genética , Proteínas Tirosina Quinasas Receptoras , Proteínas Represoras/genética , Proteínas S100/análisis , Torso , Proteína ETS de Variante de Translocación 6
10.
Zhonghua Bing Li Xue Za Zhi ; 47(2): 99-104, 2018 Feb 08.
Artículo en Chino | MEDLINE | ID: mdl-29429160

RESUMEN

Objective: To investigate the clinicopathologic characteristics, immunophenotype, differential and diagnostic features of atypical spindle cell lipomatous tumor (ASLT). Methods: Three cases of ASLT were collected from January 2010 to March 2017 at Zhejiang Provincial People's Hospital. The clinical and imaging features, histomorphology, immunophenotype and prognosis were analyzed. Fluorescence in situ hybridization (FISH) was used to detect MDM2 gene amplification, and relevant literature was reviewed. Results: All three patients were adult males, aged 38, 43 and 54 years, respectively. One tumor originated in the subcutaneous soft tissue in the head and neck, one was located in the left primary bronchus and one in the latissimus dorsi muscle. Grossly, all three tumors were circumscribed and ranged from 4.0 to 5.8 cm in size. Microscopically, all showed a focally infiltrative front. These tumors were composed of variable proportions of spindle-shaped and adipocytic cells in a background of variable fibrous and edematous matrix. Scattered lipoblasts were easily seen. One tumor was composed predominately of spindle tumor cells, one of adipocytic cells, and one of equally mixed cell populations. The spindle tumor cells were generally bland-appearing with focal nuclear enlargement and hyperchromasia noted in one case. Mitosis was not seen in neither the spindle cells nor the adipocytic cells. By immunohistochemistry, diffuse and strong reactivity to CD34 of the spindle cells was noted in all cases, definite loss of Rb expression was noted in one of three cases, and S-100 protein was expressed only in the adipocytic cells. INI-1 was intact and Ki-67 index was 1% to 3%. All other markers including CDK4, MDM2, STAT6, SOX10, CD99, bcl-2, ß-catenin, CD117, GFAP, CK, EMA, SMA and desmin were negative. FISH of MDM2 was done in two cases, and both showed no amplification. The ASLT in the head and neck had two recurrences during 17 months of follow-up, whereas the tumor in the latissimus dorsi was free of disease during 33 months of follow-up. Conclusions: ASLT is a rare subtype of low-grade adipocytic neoplasm and is distinctive from atypical lipomatous tumor/well-differentiated liposarcoma. The histomorpholgy of ASLT has significant heterogeneity and forms a continuous spectrum. ASLT needs to be distinguished from a series of benign and malignant soft tissue tumors.


Asunto(s)
Neoplasias de los Bronquios/patología , Neoplasias de Cabeza y Cuello/patología , Lipoma/patología , Neoplasias de los Músculos/patología , Adulto , Neoplasias de los Bronquios/química , Neoplasias de Cabeza y Cuello/química , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Lipoma/química , Liposarcoma/química , Liposarcoma/patología , Masculino , Persona de Mediana Edad , Neoplasias de los Músculos/química , Recurrencia Local de Neoplasia , Proteínas S100/análisis , Factor de Transcripción STAT6/análisis , Músculos Superficiales de la Espalda , beta Catenina/análisis
11.
Am J Surg Pathol ; 41(11): 1443-1455, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28877053

RESUMEN

The classification of the until recently poorly explored group of atypical adipocytic neoplasms with spindle cell features, for which recently the term atypical spindle cell lipomatous tumor (ASLT) has been proposed, remains challenging. Recent studies have proposed ASLT as a unique entity with (in at least a significant subset of cases) a specific genetic background, namely deletions/losses of 13q14, including RB1 and its flanking genes RCBTB2, DLEU1, and ITM2B. Similar genetic aberrations have been reported in pleomorphic liposarcomas (PLSs). This prompted us to investigate a series of 21 low-grade adipocytic neoplasms with a pleomorphic lipoma-like appearance, but with atypical morphologic features (including atypical spindle cells, pleomorphic [multinucleated] cells, pleomorphic lipoblasts and poor circumscription), for which we propose the term "atypical" pleomorphic lipomatous tumor (APLT). Five cases of PLS were also included in this study. We used multiplex ligation-dependent probe amplification to evaluate genetic changes of 13q14. In addition, array-based comparative genomic hybridization was performed on 4 APLTs and all PLSs. Multiplex ligation-dependent probe amplification showed consistent loss of RB1 and its flanking gene RCBTB2 in all cases of APLT. This genetic alteration was also present in all PLSs, suggesting genetic overlap, in addition to morphologic overlap, with APLTs. However, array-based comparative genomic hybridization demonstrated more complex genetic alterations with more losses and gains in PLSs compared with APLTs. APLTs arose in the subcutis (67%) more frequently than in the deep (subfascial) soft tissues (33%). With a median follow-up of 42 months, recurrences were documented in 2 of 12 APLTs for which a long follow-up was available. Herein, we also demonstrate that APLTs share obvious overlapping morphologic, immunohistochemical, genetic and clinical characteristics with the recently defined ASLT, suggesting that they are related lesions that form a spectrum (atypical spindle cell/pleomorphic lipomatous tumor).


Asunto(s)
Adipocitos , Biomarcadores de Tumor , Inmunohistoquímica , Lipoma , Técnicas de Diagnóstico Molecular , Adipocitos/química , Adipocitos/patología , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Biopsia , Cromosomas Humanos Par 13 , Hibridación Genómica Comparativa , Europa (Continente) , Femenino , Humanos , Hibridación Fluorescente in Situ , Lipoma/química , Lipoma/genética , Lipoma/patología , Lipoma/terapia , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa Multiplex , Clasificación del Tumor , Proteínas de Neoplasias/genética , Recurrencia Local de Neoplasia , Valor Predictivo de las Pruebas , Proteínas de Unión a Retinoblastoma/genética , Terminología como Asunto , Factores de Tiempo , Resultado del Tratamiento , Ubiquitina-Proteína Ligasas/genética
12.
Hum Pathol ; 65: 140-146, 2017 07.
Artículo en Inglés | MEDLINE | ID: mdl-28546131

RESUMEN

The presence and frequency of lipoblasts (LPB) in spindle cell lipomas (SCL) and pleomorphic lipomas (PL) has never been studied in detail on a histologically, immunohistochemically and molecular genetically validated set of tumors. The authors investigated this feature by reviewing 91 cases of SCL and 38 PL. When more than 3 unequivocal LPB were found, the case was regarded as positive for the presence of LPB. All positive cases were then stained with CD34 and retinoblastoma (Rb) protein antibodies and tested by fluorescence in situ hybridization for MDM2 and CDK4 amplifications and the FUS gene rearrangements. The patients with SCL and PL containing LPB were 14 women and 47 men, the rest were of unknown gender. The cases usually presented as superficial, well-circumscribed soft tissue masses and most commonly occurred in the upper back and neck. CD34 was expressed in all cases, while Rb protein was consistently absent in all. Molecular genetic results, when available, were in concordance with the morphological diagnosis of SCL/PL. LPB were found in 37 (41%) cases of SCL and 25 cases of PL (66%). While in many cases they are inconspicuous, in some others they constitute a very prominent component of the tumor. It is important to be aware of this fact in order to avoid misinterpretation as liposarcoma.


Asunto(s)
Tejido Adiposo/patología , Lipoma/patología , Liposarcoma/patología , Tejido Adiposo/química , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Diagnóstico Diferencial , Femenino , Amplificación de Genes , Reordenamiento Génico , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Lipoma/química , Lipoma/genética , Liposarcoma/química , Liposarcoma/genética , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas
13.
Hum Pathol ; 59: 34-40, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-27597521

RESUMEN

The differential diagnosis between atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS) and dedifferentiated liposarcoma (DDLPS) from their morphologic counterparts is challenging. Currently, the diagnosis is guided by MDM2 and CDK4 immunohistochemistry (IHC) and is confirmed by the amplification of the corresponding genes. Recently, p16 IHC has been proposed as a useful diagnostic biomarker. The objective was to assess the utility of p16 IHC in the differential diagnosis of ALT/WDLPS and DDLPS. Our series included 101 tumors that were previously analyzed using fluorescence in situ hybridization for MDM2 and CDK4 amplification. We compared sensitivity and specificity of p16 IHC to MDM2 and CDK4 IHC in the differential diagnosis of ALT-WDLPS (n=19) versus benign adipocytic tumors (n=44) and DDLPS (n=18) versus mimicking sarcomas (n=20). In the differential diagnosis of ALT-WDLPS, p16 had a sensitivity of 89.5% but a specificity of 68.2%, which was impaired by false-positive lipomas with secondary changes, especially in biopsies. Likewise, in the differential diagnosis of DDLPS, p16 had a sensitivity of 94.4% and a specificity of 70%, which hampered its use as a single marker. However, adding p16 to MDM2 and/or CDK4 increased diagnostic specificity. Indeed, MDM2+/p16+ tumors were all ALT-WDLPS, and MDM2-/p16- tumors were all benign adipocytic tumors. Moreover, all MDM2+/CDK4+/p16+ tumors were DDLPS, and the MDM2-/CDK4-/p16- tumor was an undifferentiated sarcoma. Although the use of p16 as a single immunohistochemical marker is limited by its specificity, its combination with MDM2 and CDK4 IHC may help discriminate ALT-WDLPS/DDLPS.


Asunto(s)
Biomarcadores de Tumor/análisis , Desdiferenciación Celular , Quinasa 4 Dependiente de la Ciclina/análisis , Inhibidor p16 de la Quinasa Dependiente de Ciclina/análisis , Inmunohistoquímica , Lipoma/química , Liposarcoma/química , Proteínas Proto-Oncogénicas c-mdm2/análisis , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/genética , Biopsia , Quinasa 4 Dependiente de la Ciclina/genética , Diagnóstico Diferencial , Femenino , Humanos , Hibridación Fluorescente in Situ , Lipoma/genética , Lipoma/patología , Liposarcoma/genética , Liposarcoma/patología , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Proteínas Proto-Oncogénicas c-mdm2/genética , Reproducibilidad de los Resultados , Adulto Joven
14.
Hum Pathol ; 54: 92-9, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-27063472

RESUMEN

Pericytes are modified smooth muscle cells that closely enwrap small blood vessels, regulating and supporting the microvasculature through direct endothelial contact. Pericytes demonstrate a distinct immunohistochemical profile, including expression of smooth muscle actin, CD146, platelet-derived growth factor receptor ß, and regulator of G-protein signaling 5. Previously, pericyte-related antigens have been observed to be present among a group of soft tissue tumors with a perivascular growth pattern, including glomus tumor, myopericytoma, and angioleiomyoma. Similarly, malignant tumor cells have been shown to have a pericyte-like immunoprofile when present in a perivascular location, seen in malignant melanoma, glioblastoma, and adenocarcinoma. Here, we examine well-differentiated liposarcoma specimens, which showed some element of perivascular areas with the appearance of smooth muscle (n = 7 tumors). Immunohistochemical staining was performed for pericyte antigens, including smooth muscle actin, CD146, platelet-derived growth factor receptor ß, and regulator of G-protein signaling 5. Results showed consistent pericytic marker expression among liposarcoma tumor cells within a perivascular distribution. MDM2 immunohistochemistry and fluorescence in situ hybridization for MDM2 revealed that these perivascular cells were of tumor origin (7/7 tumors), whereas double immunohistochemical detection for CD31/CD146 ruled out an endothelial cell contribution. These findings further support the concept of pericytic mimicry, already established in diverse malignancies, and its presence in well-differentiated liposarcoma. The extent to which pericytic mimicry has prognostic significance in liposarcoma is as yet unknown.


Asunto(s)
Diferenciación Celular , Lipoma/patología , Liposarcoma/patología , Imitación Molecular , Pericitos/patología , Actinas/análisis , Adulto , Anciano , Biomarcadores de Tumor/análisis , Biopsia , Antígeno CD146/análisis , Femenino , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Lipoma/química , Lipoma/genética , Liposarcoma/química , Liposarcoma/genética , Masculino , Persona de Mediana Edad , Pericitos/química , Fenotipo , Proteínas Proto-Oncogénicas c-mdm2/análisis , Proteínas Proto-Oncogénicas c-mdm2/genética , Proteínas RGS/análisis , Receptor beta de Factor de Crecimiento Derivado de Plaquetas/análisis , Estudios Retrospectivos
15.
Am J Dermatopathol ; 38(8): e122-4, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26913848

RESUMEN

Spindle cell/pleomorphic lipoma is an uncommonly encountered benign neoplasm that is usually found in the subcutaneous tissues. Rare cases reported in the literature have an intradermal location. This lesion usually presents as a subcutaneous nodule on the neck, shoulders, or back of middle-aged to elderly males. Although spindle cell and pleomorphic lipoma are currently considered the same entity, they were historically categorized separately. The authors report a case of hyperpigmented papule with an associated subcutaneous nodule on the left cheek of a 56-year-old man, review the literature, and discuss several important diagnostic pitfalls of spindle cell/pleomorphic lipoma.


Asunto(s)
Hiperpigmentación/patología , Lipoma/patología , Neoplasias Cutáneas/patología , Pigmentación de la Piel , Biomarcadores de Tumor/análisis , Biopsia , Mejilla , Diagnóstico Diferencial , Humanos , Inmunohistoquímica , Lipoma/química , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Neoplasias Cutáneas/química
16.
Diagn Pathol ; 11: 22, 2016 Feb 09.
Artículo en Inglés | MEDLINE | ID: mdl-26857357

RESUMEN

BACKGROUND: Myolipoma of soft tissue is an extremely rare benign tumor composed of mature adipose tissue and smooth muscle cells. It is found predominantly in women. The cytogenetic and molecular genetic features of myolipomas remain largely unexplored. Here we present the first cytogenetically analyzed myolipoma. METHODS: Cytogenetic and molecular genetic analyses were done on a myolipoma. RESULTS: G-banding analysis of short-term cultured cells from the myolipoma yielded a karyotype with a single clonal chromosome abnormality: 46,XX,t(9;12)(p22;q14). Fluorescence in situ hybridization experiments demonstrated that HMGA2 (in 12q14) was rearranged. Molecular genetic analysis showed that the translocation resulted in fusion of HMGA2 with the C9orf92 gene (from 9p22). The HMGA2-C9orf92 fusion transcript would code for a putative protein containing amino acid residues 1-94 of HMGA2 and 6 amino acid residues from the out-of-frame fusion with exon 4 of C9orf92. CONCLUSION: The pattern of HMGA2 rearrangement in the present case of myolipoma is similar to what is found in other benign connective tissue tumor types, including lipomas, i.e., disruption of the HMGA2 locus leaves intact exons which encode the AT-hook domains but separates them from the 3´-terminal part of the gene. Whether any genetic features differentiate myolipomas from regular lipomas with HMGA2-involvement is a question that cannot be answered until more cases of the former tumor type are subjected to genetic analysis.


Asunto(s)
Biomarcadores de Tumor/genética , Cromosomas Humanos Par 12 , Cromosomas Humanos Par 9 , Fusión Génica , Proteína HMGA2/genética , Lipoma/genética , Proteínas/genética , Tumor de Músculo Liso/genética , Neoplasias de los Tejidos Blandos/genética , Translocación Genética , Anciano , Biomarcadores de Tumor/análisis , Biopsia , Bandeo Cromosómico , Femenino , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Péptidos y Proteínas de Señalización Intracelular , Cariotipificación , Lipoma/química , Lipoma/patología , Lipoma/cirugía , Tumor de Músculo Liso/química , Tumor de Músculo Liso/patología , Tumor de Músculo Liso/cirugía , Neoplasias de los Tejidos Blandos/química , Neoplasias de los Tejidos Blandos/patología , Neoplasias de los Tejidos Blandos/cirugía , Células Tumorales Cultivadas
17.
Int J Biol Sci ; 11(10): 1127-39, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26327807

RESUMEN

BACKGROUND: Lipomas are benign solid tumours that develop in soft tissues with origin in mesenchymal progenitors. Macroscopically, they appear as soft-elastic nodules, varying in volume from a few millimiters to several centimetres and can enlarge progressively. Although they are usually asymptomatic, they can cause symptoms due to nerve or vessel compression. Microscopically they appear as fibrous connective tissue stroma with embedded adipocytes, and absence of inflammation. Up to now no characterisation of stem cell population present in this tissue has been performed. METHODS: Cytofluorimetric, biological and molecular biology analyses have been performed in order to test superficial cell markers and gene expression profile related to stemness and apoptotic activity of cells present in lipoma tissues compared to those of adipose tissue's cells. RESULTS: Our results confirmed that CD34(+) cells in lipoma were present around small adipocytes, showing several altered biological activity such as proliferation, apoptotis and stemness. CONCLUSIONS: The data emerging from the comparison of the lipoma cells and normal adipose tissue, suggests the presence of cell precursors involved in the development of the lipoma. This hypothesis requires further investigation and may indicate new thresholds in the study of benign tumour pathogenesis.


Asunto(s)
Tejido Adiposo/citología , Antígenos CD34/análisis , Lipoma/patología , Células Madre Neoplásicas , Tejido Adiposo/química , Biomarcadores/análisis , Células Cultivadas , Femenino , Humanos , Lipoma/química , Masculino
18.
Int J Clin Exp Pathol ; 8(7): 8650-4, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26339452

RESUMEN

Dendritic fibromyxolipoma is an uncommon benign soft tissue tumor. Here, we report a case in a 53-year-old man presenting a painless mass located deep in the latissimus dorsi of the right back. Microscopically, the tumor was mainly consisted of small spindle and stellate cells, abundant myxoid stroma, collagen bundles and mature adipose tissue. Immunohistochemical study showed the spindle and stellate cells were positive for CD34, Bcl-2 and Vimentim, but not for Keratin, EMA, SMA and Desmin. To date, one year after operation, the patient is well without evidence of recurrence or metastasis. The implication of this report is to provide insights into further understanding of this rare tumor with review of the literature.


Asunto(s)
Fibroma/patología , Lipoma/patología , Neoplasias de los Músculos/patología , Tumores Fibrosos Solitarios/patología , Músculos Superficiales de la Espalda/patología , Biomarcadores de Tumor/análisis , Biopsia , Fibroma/química , Fibroma/cirugía , Humanos , Inmunohistoquímica , Lipoma/química , Lipoma/cirugía , Masculino , Persona de Mediana Edad , Neoplasias de los Músculos/química , Neoplasias de los Músculos/cirugía , Tumores Fibrosos Solitarios/química , Tumores Fibrosos Solitarios/cirugía , Resultado del Tratamiento
19.
Int J Clin Exp Pathol ; 8(3): 3299-303, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26045856

RESUMEN

Spindle cell lipoma (SCL) is a rare, benign adipocytic tumor commonly arising in the upper neck, back, and shoulder regions. To the best of our knowledge, only one case of SCL of the wrist has previously been reported. We herein report a rare case of SCL arising at the wrist. A 77-year-old man presented with a 4-year history of a mass in the right wrist. Radiography showed no significant findings, and magnetic resonance imaging demonstrated the presence of a mass on the radial dorsal side of the right wrist. Needle biopsy suggested the tumor was SCL, and total excision was performed. Macroscopically, the tumor was circumscribed by fibrous membrane with a yellowish to partly white surface. Histologically, the tumor was composed of mature adipocytes and proliferation of the less atypical spindle cells in a ropey-like collagen background. Immunohistochemically, the tumor cells showed diffuse and strong expression for CD34. The final diagnosis of SCL was made on the basis of these pathological and radiological findings. The patient was successfully treated and shows no evidence of disease at 3 months after surgery.


Asunto(s)
Lipoma/patología , Neoplasias de los Tejidos Blandos/patología , Anciano , Antígenos CD34/análisis , Biomarcadores de Tumor/análisis , Biopsia , Humanos , Inmunohistoquímica , Lipoma/química , Lipoma/cirugía , Imagen por Resonancia Magnética , Masculino , Neoplasias de los Tejidos Blandos/química , Neoplasias de los Tejidos Blandos/cirugía , Resultado del Tratamiento , Muñeca
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