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PubMed1991

Primitive polypoid granular-cell tumor and other cutaneous granular-cell neoplasms of apparent nonneural origin.

Most cutaneous and noncutaneous granular-cell tumors are currently thought to be of Schwann-cell derivation. We present seven unusual cutaneous granular-cell lesions in which Schwann-cell origin can be excluded or is inapparent. Four of these lesions are of a previously undescribed type, and, unlike conventional granular-cell tumors of the skin, show a polypoid configuration, numerous mitoses, cytologic atypia, and a primitive immunophenotype. We propose the term "primitive polypoid granular-cell tumor" for these lesions. One occurred in a child, and three in adults. There have been no metastases to date, with follow-up periods of 2, 4, 4, and 16 years, respectively, although one tumor recurred locally. Additional cases and longer follow-up may be required to rule out the possibility that primitive polypoid granular-cell tumor is a low-grade malignancy. Two other granular-cell lesions represent variants of leiomyosarcoma, one of which widely metastasized. The last case is a granular-cell form of nodular basal-cell carcinoma. Cutaneous granular-cell neoplasms can show varying differentiation and behavior. Pathologists should not equate the occurrence of cytoplasmic granularity in a cutaneous neoplasm with the diagnosis of granular-cell schwannoma.

Adult↗
PubMed1991

Granular cell tumor of the biliary tree. A report of two cases and a review of the literature.

Granular cell tumors are relatively uncommon soft tissue tumors usually presenting in the skin and subcutaneous tissues or tongue, although many sites have been described. Two cases arising in the extrahepatic biliary tree are described, and the previously reported cases of this rare presentation are reviewed. These tumors may mimic sclerosing cholangitis and cholangiocarcinoma clinically, and occasionally histologically, in this relatively young group of patients. The histogenesis appears to be related to Schwann cells as in granular cell tumors of other sites, evidenced by histologic, immunohistochemical, and electron microscopic findings. Granular cell tumors, albeit rare, should be considered in the differential diagnosis of biliary tract disease in young patients, particularly black women, and are curable by surgical excision.

Adult↗
PubMed2001

Recent progress in the classification of soft tissue tumors: role of genetics and clinical implications.

Soft tissue tumors comprise a vast and heterogeneous group of neoplasms. Because different tumors often have different biological behaviors and respond differently to various therapeutic modalities, precise classification is paramount. The majority of soft tissue tumors were first delineated on the basis of morphologic and clinical findings, which in many cases were adequate to accurately separate different tumors into homogeneous groups; however, it has increasingly been appreciated that many entities are actually heterogeneous groups of tumors that have similar histologic and pathologic characteristics but differ in their clinical behavior and underlying pathogenesis. Within the past several years, great strides have been made in the purification of different entities. This accomplishment has largely been because of advances in our understanding of the molecular genetics that underlie the pathogenesis of many sarcomas and the development of new and specific tumor markers. This review highlights some important recent work in two selected soft tissue tumors-gastrointestinal stromal tumor and inflammatory myofibroblastic tumor. These examples illustrate the type of progress that is being made in the classification of soft tissue tumors.

Biomarkers, Tumor↗
PubMed1991

Vulvar granular cell tumors with pseudocarcinomatous hyperplasia: a comparative analysis with well-differentiated squamous carcinoma.

The clinical and pathological findings in 10 cases of vulvar granular cell tumor are reviewed. Nine patients presented with solitary, grossly circumscribed, subcutaneous or submucosal nodules and one with synchronous bilateral labial nodules; two exhibited surface epithelial ulceration. Striking pseudocarcinomatous hyperplasia of the overlying squamous epithelium was noted in five of the 10 cases, leading to a misdiagnosis of invasive squamous carcinoma on superficial biopsy in one case. In contrast to previously published data, it was found that pseudocarcinomatous hyperplasia contained numerous mitotic figures, squamous pearls, mildly atypical nuclei, focally prominent nucleoli, and focal single cell infiltration; follicular infundibula were not preferentially involved. Excluding the presence of the underlying granular cell tumor, these features rendered the hyperplastic proliferation nearly indistinguishable from infiltrative squamous carcinoma. Marked squamous cell atypia, although not always present in biopsies of well-differentiated squamous carcinoma, was the only distinguishing histologic feature not found in pseudocarcinomatous hyperplasia. Although vulvar granular cell tumor is an unusual neoplasm, it should be considered in the differential diagnosis of an apparently infiltrative squamous lesion of the vulva when the base of the lesion is not present in the biopsy specimen. This is particularly true of tumors with a nodular, radially symmetric gross appearance.

Adult↗
PubMed2001

Pseudotumor of infancy and congenital muscular torticollis: 170 cases.

OBJECTIVES: To review pseudotumor of infancy (POI) and congenital muscular torticollis (CMT) and to suggest an algorithm for treatment. STUDY DESIGN: Retrospective review of cases from 1962 to 1998 at a tertiary care center. METHODS: Patients included in this study were 81 boys and 89 girls who had a diagnosis of POI (n = 38) or CMT (n = 132) before 24 months of age. RESULTS: For all patients, the mean age at diagnosis was 4 months; 54.1% had the left side of the neck affected, over 90% had a head tilt, and 2.4% had feeding difficulty as a result of the disorder. Plagiocephaly was present in 39.5% of patients with POI and 63.6% of patients with CMT; a neck mass, in 63.2% and 18.2%, respectively; and facial asymmetry, in 7.9% and 15.9%, respectively. All patients had a complete physical examination; 54.1% had plain cervical radiography, 4.1%, computed tomography, and 2.9%, ultrasonography. Passive range of motion was the initial treatment recommended for 65.3% of patients. Conservative treatment failed for 16 patients; subsequently, they had surgical treatment. Follow-up data were available for 159 patients; 85.5% experienced total resolution and 14.5% experienced subtotal resolution or long-term abnormality. CONCLUSIONS: Children diagnosed with POI or CMT should be treated and observed for at least 12 months or until symptoms resolve. If symptoms persist 1 year after diagnosis despite conservative therapy, surgical treatment should be considered. The majority of children with POI or CMT experience total resolution of symptoms.

Algorithms↗
PubMed2006

18F-FDG PET and PET/CT for detection of pulmonary metastases from musculoskeletal sarcomas.

OBJECTIVE: Sarcomas represent a significant therapeutic challenge and their potential for distant pulmonary metastases is well known. [(18)F]Fluorodeoxyglucose ((18)F-FDG) positron emission tomography (PET) has a role in differentiating sarcomas from benign tumours and assessing the response to therapy in advanced sarcomas. However, PET appears to be less accurate in detection of pulmonary metastases. We were therefore prompted to review our experience with PET and PET/computed tomography (CT) in osseous and soft tissue sarcomas (OSTSs). METHODS: This is a retrospective study (January 1995 to December 2004) of 106 patients with histological diagnosis of OSTS, who had PET and PET/CT at our institution. The group included 52 men and 54 women, aged 12-92 years (average, 45+/-20 years). RESULTS: For all the patients in the analysis, the sensitivity and specificity were 68.3% (95% CI: 53-80.4) and 98.4% (95% CI: 91.8-99.7) for PET, with 95.1% sensitivity (95% CI: 83.8-98.6) and 92.3% specificity (95% CI: 83.2-96.7) for CT. Pulmonary metastases were seen in 40 patients. CT identified 17 lesions larger than 1.0 cm, while PET identified 13 of them (76.5%). CONCLUSIONS: Chest CT is more sensitive than PET in detecting pulmonary metastases from OSTS. A significant portion of known pulmonary metastases greater than 1.0 cm on CT, are PET negative. Sub-centimetre CT lesions should not be considered false positive if inactive on PET. A negative PET scan in the presence of suspicious CT findings in the chest cannot reliably exclude pulmonary metastases from OSTS.

Adolescent↗
PubMed2002

Expression of ALK1 and p80 in inflammatory myofibroblastic tumor and its mesenchymal mimics: a study of 135 cases.

Abnormalities of chromosome 2p23 with expression of ALK1 and p80 occur in both inflammatory myofibroblastic tumor (IMT) and anaplastic large cell lymphoma. This immunohistochemical study investigates whether the ALK family of neoplasms includes fibroblastic-myofibroblastic, myogenic, and spindle cell tumors. Formalin-fixed paraffin-embedded archival tissues from 10 IMTs and 125 other soft tissue tumors were stained for ALK1 and p80 with standard immunohistochemistry. ALK1 and/or p80 reactivity was observed in a cytoplasmic pattern in IMT (4/10; 40%), malignant peripheral nerve sheath tumor (4/10; 40%), rhabdomyosarcoma (6/31; 19%), leiomyosarcoma (1/10; 10%), and malignant fibrous histiocytoma (1/11; 9%). No staining was observed in nodular fasciitis, desmoid, infantile myofibromatosis, infantile fibrosarcoma, synovial sarcoma, leiomyoma, or myofibrosarcoma. Alveolar rhabdomyosarcomas (4/16; 25%) displayed a distinctive dot-like cytoplasmic positivity. No cases displayed nuclear reactivity. Fluorescent in situ hybridization on 12 of the positive cases revealed a combination of abnormalities including ALK break-apart signals, nucleophosmin (NPM)/ALK fusions, or extra copies of 2p23. This study demonstrates that in addition to IMT, abnormalities of ALK1 and p80 expression with a variety of structural chromosomal changes are found in several sarcomas, especially rhabdomyosarcoma and malignant peripheral nerve sheath tumor. Although immunoreactivity in non-IMTs cannot distinguish between structural abnormalities involving 2p23 or additional copies of 2p23, it supports the concept of ALK involvement in a larger group of neoplasms, some of which have other documented clonal abnormalities. In IMT, immunohistochemistry for ALK1 and p80 is useful as an indicator of a 2p23 abnormality, but it must be interpreted in the context of histologic and other clinicopathologic data if used as an adjunct to differential diagnosis.

Activin Receptors, Type I↗
PubMed2005

How we do it: the anterior thoraco-cervical approach to tumours of the thoracic inlet.

KEYPOINTS: Tumours that arise in the thoracic inlet and superior mediastinum may be benign or malignant and present the surgeon with a difficult problem of access. The standard approach to the thoracic inlet from below offers limited exposure to the vascular and neural structures superior to the tumours. The anterior thoraco-cervical approach to the root of the neck and superior mediastinum combines the anterior cervical approach with a limited upper median sternotomy. If further access is required to achieve surgical clearance a full sternotomy split can be performed. The approach offers excellent exposure and helps to facilitate complete resection of benign and malignant tumours, which would otherwise be deemed inoperable or difficult to resect completely through other standard approaches. In contrast to previously described anterior transcervical thoracic approaches which required resection of part of the clavicle or manubrium as well as thoracotomy with increased morbidity, the anterior thoraco-cervical approach is associated with little morbidity and the postoperative stay is short.

Chylothorax↗
PubMed2002

Reconstructive techniques for the repair of oral and maxillofacial oncological procedures: what are they, how do they work and what do they look like?

BACKGROUND: There are many different ways to reconstruct the oral and maxillofacial region post tumour ablation. In the past, the resection of oral tumours had been associated with significant disfigurement and loss of function. Modern techniques aim to restore function and improve cosmetics. This paper aims to describe the techniques used in patients treated at the Austin and Repatriation Medical Centre and to answer the more common questions associated with reconstructive techniques. METHODS: A review of techniques of oral reconstruction used by our unit over the last nine years and a review of the literature. RESULTS: Various techniques of reconstruction gained from our experience in treating patients with oral cancer are documented. There are a variety of techniques including grafts, local flaps, regional flaps and free vascularized flaps. Metallic implants such as osseointegrated dental implants may also be used for dental rehabilitation. CONCLUSIONS: There are many different methods of reconstruction in patients who have had resection for oral tumours. It is important for general dental practitioners who may be involved with the care of such patients to have an understanding of the modern techniques of reconstruction that may be used.

Adipose Tissue↗
PubMed2003

Inflammatory myofibroblastic tumour of paranasal sinuses with fatal outcome: reactive lesion or tumour?

Inflammatory myofibroblastic tumours (IMTs) are clinicopathologically distinctive but biologically controversial entities, which have been described in the lungs, abdomen, retroperitoneum, and extremities, but rarely affect the head and neck region. IMT usually follows a benign clinical course after radical excision, but invasive, locally recurrent, and metastatic forms of abdominal and mediastinal IMT have also been described. This report describes a case of IMT of the paranasal sinuses with a fatal outcome. A 22 year old woman was admitted to hospital as a result of epistaxis. Computed tomography scan and magnetic resonance imaging showed an expansive process in the paranasal sinuses, extending into the nasal cavity, orbita, and endocranium. The tumour progressed despite several surgical procedures. Radiotherapy, corticosteroids, and chemotherapy were unsuccessful, and the patient died four years after diagnosis, as a result of extensive intracranial spread of the tumour. This is the first known case of an IMT of the head and neck region with a fatal outcome. It shows that the aggressive behaviour of IMTs is not limited to abdominal and mediastinal locations, and supports recent observations that at least a subset of IMTs represents true neoplasia rather than reactive myofibroblastic proliferation.

Adult↗