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Truth About Lipoma

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Lipomatous Polyposis

Intestinal lipomas are benign tumors consisting of collections of adipose tissue in the submucosa. Solitary lipomas are common in the intestine, most often occurring in the vicinity, or involving the ileocecal valve. Diffuse lipomatous polyposis is an extremely rare condition (105,117). The polyps may occur in the small bowel, large bowel, or both. There is an association of diffuse intestinal lipomatous polyposis and lipo-matosis or hypertrophy of the appendices epiploicae of the colon (118). Diffuse lipomatous polyposis is usually asymptomatic, but patients may present with GI bleeding, diarrhea, intussusception, or obstruction (105,119).

Genotypephenotype associations

Furthermore, two of these mutations included one with a cytogeneti-cally detectable deletion of 10q23, encompassing PTEN, and another with a translocation involving 10q23. The mutational spectra of BRR and CS seemed to overlap, thus lending formal proof that CS and BRR, at least a subset, are allelic (Marsh et al., 1999). There was no difference in mutation frequencies between isolated BRR and familial BRR. Of interest, more than 90 of CS-BRR overlap families were found to have germline PTEN mutations. The presence of PTEN mutation in BRR was found to be associated with the development of any cancer as well as tumours of the breast and lipomas. Therefore, the presence of PTEN mutations in BRR may have implications for cancer surveillance in this syndrome previously not believed to be associated with malignancy. In view of the genetic and molecular epidemiological data to date, some clinical cancer geneticists have found it more useful to consider, and thus medically manage,...

Differential diagnosis

Proteus syndrome (MIM 176920) could be considered in the differential diagnosis of CS because of the common theme of overgrowth, e.g. hemihypertrophy, macrocephaly, connective tissue naevi and lipomatosis (Gorlin, 1984). Like CS, Proteus syndrome can have a broad spectrum of phenotypic expression, and so its diagnosis is also made by consensus operational criteria (Biesecker et al., 1999). Mandatory diagnostic criteria include mosaic distribution of lesions, progressive course and sporadic occurrence (Biesecker et al., 1999). Connective tissue naevi are pathognomonic for this syndrome. In a small pilot study to determine whether Proteus syndrome is part of PHTS, an apparently isolated case of a Proteus-like syndrome, comprising hemihypertrophy, macrocephaly, lipomas, connective tissue naevi and multiple arteriovenous malformations, was found to have a germline PTEN mutation R335X (Zhou et al., 2000b). Interestingly, a naevus, a lipomatous region and arteriovenous malformation tissue...

Clinical Description Presentation

Cowden syndrome shows partial clinical overlap with the overgrowth disorder BRR syndrome, with intestinal hamartomatous polyps, macrocephaly, and lipomas being seen in both conditions, as well as germline PTEN mutation. A number of families described as ''overlap'' families have been reported in which both CS and BRR segregate with the identical germline PTEN mutation. 9,10 Bannayan-Riley-Ruvalcaba and Cowden syndromes have therefore been considered to be phenotypic variants of the same condition and have been referred to as the ''PTEN hamartoma-tumor syndrome'' (PHTS). 10 The presence of other genetic and or epigenetic factors are highly likely to play a role in the determination of phenotype in these conditions.

Inflammatory Fibroid Polyps

IFPs are likely reactive lesions that develop in response to chronic mucosal and submucosal injury. H. pylori infection, nonsteroidal anti-inflammatory drugs gastropathy, and argon plasma coagulation therapy have been suggested as etiological factors (66,67). Although considered non-neoplastic, Mori et al. 68) noted in a series of 50 IFPs, 4 cases of adenoma or adenocarcinoma restricted to the mucosa in or adjacent to a polyp. Owing to the submucosal nature of these polyps, standard forceps biopsy is unlikely to provide adequate tissue for diagnosis (69). Endoscopic ultrasound can be used to distinguish these lesions from other submucosal abnormalities such as leiomyomas and lipomas (Fig. 4). They appear as isoechoic expansions

Multiple Endocrine Neoplasia Type 1 Men 1 Syndrome

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant endocrinopathy syndrome caused by mutations (mostly truncating) in the MEN1 gene (chromosomal locus 11q13). 16 MEN1 gene is a tumor suppressor gene that consists of 10 exons and its product is a 610-amino acid protein called menin. 16-18 MEN 1 syndrome is characterized by various combination of endocrine tumors involving the parathyroid glands (HPT is usually the first manifestation with near 100 penetrance by age 50), entero-pancreatic islet cell tumors (gastrinoma in 40 , insulinoma in 10 , nonfunctioning in 20 ), and anterior pituitary adenomas (prolactinoma is the most common and occurs in 20 of patients). 12,19 Less prevalent tumors include adrenal cortical tumors, foregut carcinoid tumors, and lipomas. Pheochromocyto-mas are rare in MEN 1. Neuroendocrine tumors of the pancreas are often multifocal and malignant, and are the leading cause of mortality in patients with MEN 1. Genetic testing for MEN 1 is...

Evaluation of Eyelid Lesions

Lesions Definition

The consistency of a lesion is stated as being soft, medium, firm, or fluctuant. Soft lesions are easily compressible (lipomas, neurofibromas), medium lesions are slightly compressible (most inflammatory lesions), and firm lesions cannot be compress at all (fibromas). The consistency of cysts is somewhat of an exception to this grading system. A cyst may be somewhat compressible as you first start to squeeze it, but the limits of elasticity of the wall are quickly reached and the lesion then begins to feel quite firm.

Tumors Involving The Heart And Pericardium

Primary Cancer Pericardium

Cardiac lipomas are benign tumors that have been described throughout the heart, typically in a subepi-cardial or subendocardial location. Rarely, they can arise within the myocardium or from the leaflets. They often appear more echodense and fixed than myxomas, and are often clinically silent (Fig. 16 Thrombus within ventricular aneurysm or pseudo-aneurysm Lipomatous hypertrophy of the interatrial septum Myxomac Lipoma please see companion DVD for corresponding video). It is important to distinguish this entity from lipoma-tous hypertrophy, which is an accumulation of excess fat in the interatrial septum, sparing the fossa ovalis, giving a characteristic dumbbell shape to this structure (Fig. 5 please see companion DVD for corresponding video). Lipomatous interatrial septal hypertrophy is considered a normal variant of no real clinical significance, although it can become very prominent in some individuals.

MR Imaging of Bone and Soft Tissue Tumors

There has been disagreement among musculo-skeletal radiologists on the necessity for contrast administration in MRI examinations of musculoskeletal tumors (Berger et al. 2000 van der Woude and EgMont-Petersen 2001). A case can be made that neither static nor dynamic contrast-enhanced imaging is critical to the diagnosis of these lesions (van der Woude and Egmont-Petersen 2001), because the use of contrast has not been shown to improve the discrimination between benign and malignant tumors, except in cartilaginous tumors. Therefore biopsy is required for any lesions suspicious for malignancy. However, contrast administration should be planned for examinations done for staging, for measuring response to therapy, and for follow-up. DCE-MRI is more discriminating than static contrast MRI for the staging of musculoskeletal lesions, and DCE-MRI may also be necessary to guide the biopsy for optimal tumor sampling. Unless malignancy can be ruled out definitively (as for some bone and soft...

Fig 1 Suprasellar lesions neoplastic

These are midline tumors, found most commonly in the posterior fossa and only rarely in the suprasellar region. Imaging reflects the high fat content of these lesions. Calcification is relatively common. CT shows a hypodense lesion. The signals on MRI reflect a higher fat content than that of the brain. These tumors with the lipomas are two uncommon causes of suprasellar bright spots Lipomas Most intracranial lipomas are considered as congenital abnormalities rather than neoplasms. The most common sites are the interhemispheric fissure (50 ), the quadrigeminal cistern and pineal region, the suprasellar cistern and cerebellopontine angle cistern. CT imaging shows attenuation values that are in the negative range, usually -30 to -100 HU, and are isodense to subcutaneous fat. MRI demonstrates lipomas high in intensity on Tl-weighted images and intermediate to low on T2-weighted images.

Familial Adenomatous Polyposis Syndrome

Attenuated flat adenoma polyposis syndrome (AFAP), Gardner syndrome, and Turcot (glioma-polyposis) syndrome are phenotypical variants of the FAP syndrome. They have the same molecular genetic basis as the FAP syndrome. Gardner syndrome is characterized by colonic polyposis along with sebaceous cysts, lipomas, desmoid tumors, fibromas, facial bone osteomas, and impacted or supernumerary teeth. 5 Turcot's syndrome is a genetically heterogeneous condition characterized by CNS tumor formation along with colonic polyposis. Turcot's syndrome usually occurs due to mutations in the APC gene or one of the genes associated with hereditary nonpolyposis colon cancer syndrome (HNPCC). Turcot's syndrome due to mutations in the APC gene is typically associated with occurrence of medulloblastoma, whereas glioblastoma is the CNS tumor type that is most frequently observed in Turcot's syndrome that occurs due to mutations in HNPCC-associated genes. 6 More recently, an attenuated form of FAP, now known...

Primary Soft Tissue Sarcomas

MRI is critical in staging soft tissue neoplasms (Verstraete and Lang 2000 Berger et al. 2000 Noria et al. 1996 Rao 1993), and should occur before any biopsy or resection is attempted. A case can be made that DCE-MRI is useful in targeting biopsies in some cases, e.g., identification of liposar-comatous degeneration within lipoma (Shapeero et al. 2002), and there is evidence that DCE-MRI can improve accuracy of diagnosis for leiomyosar-coma arising within uterine leiomyoma (see below). Improvements in the accuracy of biopsy planning and resection are needed, because incomplete resection, including contamination from intralesional procedures, is currently the most common cause of amputation for extremity soft tissue tumors (NoriA et al. 1996 Kaste et al. 2002 Mankin et al. 1996). The problem of detecting residual tumor after incomplete resection is therefore a major issue with these lesions, and has not received the attention it deserves (Kaste et al. 2002 Noria et al. 1996). However,...

Cowden Syndrome

Cowden syndrome is a genetic syndrome of multiple hamartomas. Current nosology includes Lhermitte-Duclos disease, a condition of cerebellar dysplastic gangliocytomas with other findings characteristic of Cowden syndrome. Lhermitte-Duclos disease can be thought of as the neurological variant of Cowden syndrome. Also included is a syndrome of macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Riley-Ruvalcaba syndrome). The phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene causing Cowden syndrome is located on chromosome 10q23.31. PTEN is a widely expressed, dual-specificity phosphatase, which has actions as a tumor suppressor. The exact mechanism of PTEN action is unclear, but it may act to arrest the cell cycle and be a mediator of apoptosis.


Lipoma Eyelid

DIFFERENTIAL DIAGNOSIS The differential diagnosis includes juvenile xanthogranuloma, low grade necrobiotic xanthogranuloma, Erdheim-Chester disease, xanthelasma, dermatofibroma, lipoid proteinosis, tuberous xanthoma, lipoma, fibrous histiocytoma, lymphoma, neurofibroma, and amyloidosis.

Nodular Fasciitis

DIFFERENTIAL DIAGNOSIS The differential diagnosis includes benign tumors such as fibrous histiocytoma, epidermal hyperplasia, neurofibroma, and spindle cell lipoma. They can also be mistaken for malignant lesions including leiomyosarcoma, fibrosarcoma, and malignant peripheral nerve sheath tumors.

Other Colonic Tumors

LIPOMAS AND OTHER BENIGN LESIONS Colonic lipomas are encapsulated masses of mature fat cells, predominately arising in the submucosa. Most lipomas (70 ) are found in the cecum and ascending colon. Multiple lipomas are found in 25 of patients (53). Radiographically, these tumors appear as smooth-surfaced pedunculated, semi-pedunculated, or sessile masses that change size and shape with compression and varying degrees of colonic distension (54,55) (Fig. 22). These tumors are not infrequently found incidentally at CT, appearing as smooth or lobulated masses of fat attenuation (56) (Fig. 23).

Benign Tumors

Single Contrast Esophagram

Benign gastric tumors can either be mucosal or submucosal in origin. Mucosa lesions consist primarily of hyperplastic and adenomatous polyps, whereas submucosal lesions include GI stromal tumors, lipomas, and ectopic pancreatic rests. Lipoma Gastric lipomas are rare benign tumors of the stomach. Most patients are asymptomatic, but GI bleeding can occur if the lesion is ulcerated. Lipomas typically appear on barium studies as smooth, round or ovoid submucosal masses. Unlike GISTs, these lesions may change dramatically in size and shape at fluoroscopy because of their soft consistency (51). Gastric lipomas can be definitively diagnosed on CT by their characteristic fat density (52).

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