Cases reported "Soft Tissue Neoplasms"

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1/202. Localized soft tissue angiomatosis with subsequent development of angiolymphoid hyperplasia with eosinophilia.

    We report an unusual case of arteriovenous (AV) malformation (localized form of soft tissue angiomatosis): a reaction of angiolymphoid hyperplasia with eosinophilia (ALHE) developed over the lesion of this pre-existing AV malformation. To the best of our knowledge, there is no other report of ALHE in association with a pre-existing bona fide AV malformation. A 71-year-old woman consulted our clinic because a reddish, dome-shaped tumor on her preauricular region, present as a slightly elevated, skin-colored tumor since her childhood, had rapidly enlarged and become more elevated with color change during the preceding two months. The histological features of most of the lesion corresponded to those of soft tissue angiomatosis (localized form). The proliferative vessels underlying the soft tissue angiomatosis streamed out and welled into the dermis with an accompanying prominent inflammatory infiltrate composed of lymphoid cells and eosinophils: these histological features were characteristic of ALHE. The recent abrupt clinical changes in the tumor were considered to represent a reaction to the angiomatosis with development of ALHE.
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2/202. Papillary endothelial hyperplasia presenting as a chest wall neoplasm.

    Soft tissue hematomas generally resolve but may persist and develop into slow-growing, organized masses. These chronic expanding hematomas are characterized by a pseudocapsule and a predominantly necrotic central cavity, with foci of newly formed capillaries. These have been called chronic expanding hematomas or Masson's papillary endothelial hyperplasia. These lesions can mimic vascular neoplasms and must be considered in the evaluation of expanding soft tissue vascular malformations.
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3/202. Molecular assessment of clonality leads to the identification of a new germ line TP53 mutation associated with malignant cystosarcoma phyllodes and soft tissue sarcoma.

    Cystosarcoma phyllodes (CSP) is a rare breast neoplasm composed of stromal and epithelial elements. It usually runs a benign course but it may metastasize. In a 31-year-old patient with recurring CSP, a mesenchymal tumor in the leg developed. The question arose whether the latter tumor could be a metastasis from the CSP, which would have major treatment consequences. The problem was addressed using molecular methods, i.e., comparison of the pattern of polymorphic repeat markers on chromosome 17p as well as single strand conformation polymorphism analysis and sequencing of exons 5 to 8 of the TP53 gene in both tumor and normal tissue. An identical pattern of loss of heterozygosity in both breast tumors was demonstrated, but a different pattern was shown in the tumor in the leg. This led to the conclusion that the latter tumor had to be a new primary tumor. A mutation in codon 162 of the TP53 gene was found in the tumor tissue as well as in the normal tissue of this patient. This germ line mutation leads to the replacement of isoleucine by asparagine and most likely has functional consequences. In all four examined tumors of this patient, the normal TP53 allele was lost. This is strong evidence that this germ line TP53 mutation causes the genesis of these two rare primary mesenchymal tumors in this young patient. The current study exemplifies the power of molecular diagnostic methods in investigating the specific clinical problem of clonal relation between two separate tumors. The germ line mutation found in codon 162 of the TP53 gene and the association with cystosarcoma phyllodes have not been described previously.
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4/202. Solitary cellular schwannoma (neurilemmoma) showing malignant changes: evaluation through magnetic resonance imaging (M.R.I.), surgical intervention, and histopathology.

    Schwannoma (neurilemmoma) are common benign tumors arising from the peripheral nerve sheath. Malignant transformation is uncommon. A unique case showing such a transformation is reported highlighting the roles of magnetic resonance imaging, surgical intervention, and histopathology. The case was thoroughly investigated by learning the details of the sequence of events leading to the current status. The evaluation was made through magnetic resonance imaging. In addition, computed tomography and conventional radiography were used to locate any foci of calcification. Subsequently, the tumor's gross and microscopic morphology was defined by surgical intervention and histopathology. Malignant schwannoma of the left leg occupying the entire calf is extremely uncommon. Only ten cases have been reported thus far, including the current one from the Indian subcontinent. Malignant transformation in a schwannoma differs significantly from malignant nerve sheath tumors (erroneously called malignant schwannomas). An endeavour has been made to differentiate malignant transformation in schwannoma from other malignant peripheral nerve sheath tumors. An innovation in this direction is magnetic resonance imaging. This investigate procedure is imperative in such situations, along with surgery and histopathology, which may also help in classifying the condition.
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5/202. Squamous cell carcinoma in chronic ulcerative lesions: a case report and literature review.

    A case report and literature review are presented involving a fatal case of squamous cell carcinoma of the lower extremity. The unique aspects of this patient include the young age at presentation (35 years old), and the association with both a burn scar (Marjolin's) ulcer and a draining osteomyelitis fistulus tract. Epidemiologic data for Marjolin's ulcers as well as squamous cell carcinoma associated with draining sinus tracts of osteomyelitis are reviewed, in addition to the recommended management of such patients. The case presented is a reminder of the need to maintain a high index of suspicion for malignant transformation within ulcerative lesions.
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6/202. Spontaneous chylothorax associated with primary lymphedema and a lymphangioma malformation.

    Spontaneous chylothorax associated with primary lymphedema is an exceedingly rare clinical entity. We report a case of chylothorax in a 38-year-old woman with a history of primary lymphedema of the right leg and an inguinal lymphangioma. Pathophysiology, diagnosis, treatment, as well as literature review are presented.
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7/202. Combined clear and granular cell leiomyoma of soft tissue: evidence of transformation to a histiocytic phenotype.

    AIMS: We present an unusual case of leiomyoma with a clear and granular cell pattern in which there was immunohistochemical evidence of transformation to a histiocytic phenotype. methods AND RESULTS: A 64-year-old man presented with mild scrotal swelling and pain. A local excision was performed after the clinical diagnosis of epidermal inclusion cyst. In the pathological specimen, another tumour nodule was identified which was composed predominantly of clear cells, with an occasional mixture of granular cells. Immunohistochemical analysis demonstrated positive staining for vimentin, lysozyme, CD68 and HAM56, but complete negativity for desmin, alpha-smooth muscle actin, HHF35, S100 protein, neurone-specific enolase and CD34. Ultrastructural study revealed dilated rough endoplasmic reticulum, glycogen granules, abundant vacuolar structures and also thin microfilaments with subplasmalemmal dense bodies. CONCLUSIONS: Based on these findings, we have interpreted it to be a rare case of leiomyoma with extensive clear cell and granular cell degeneration (combined clear and granular cell leiomyoma). This complete transformation of the immunohistochemical profile into the histiocytic phenotype has not been previously described in the literature.
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8/202. Fine needle aspiration of extramedullary myeloid cell tumor in myelodysplastic syndrome. A report of three cases.

    BACKGROUND: Soft tissue tumors are rare in myelodysplastic syndrome (MDS), and the role of fine needle aspiration (FNA) cytology in their diagnosis has not been explored. CASES: Two patients with refractory anemia with excess blasts in transformation (RAEB-t) developed soft tissue swellings during the course of the illness. In a third patient, soft tissue swelling was a presenting feature. The swellings in all three cases were diagnosed as extramedullary myeloid cell tumor (EMT) on FNA and showed increased blasts (10-14%), dyspoietic changes, Auer rods and monocytosis. CONCLUSION: Soft tissue tumors appearing in MDS are likely to be EMTs. FNA is therefore particularly valuable in their diagnosis as morphology, cytochemistry, immunophenotyping and flow cytometric analysis of hematopoietic cells are best studied on aspirated material. We suggest that FNA be preferred over excisional biopsy for the diagnosis of soft tissue swellings in MDS.
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9/202. Perineal hemangioma, anorectal malformation, and genital anomaly: a new association?

    Two patients presented as full-term baby girls with anorectal and genital malformations with extensive perineal hemangiomas. The first patient had a vestibular anus with a perineal hemangioma involving the bladder, rectal, and vaginal walls. skin ulcerations required a transverse loop colostomy for wound care. The vulva, urethral opening, and clitoris were deviated to the left, labia minora were absent, and the labia majora were abnormal. The second patient had an anus displaced anteriorly and deviated to the right. The external anal sphincter was hypertrophic on the left and atrophic on the right. Rectal examination showed agenesis of the right levator ani and a dentate line located at the skin level. She had a large perineal, sacral, vaginal, pararectal and retroperitoneal hemangioma and developed extensive skin ulcerations. She had only a hemiclitoris located to the left of the midline, near absence of labia minora, and hypertrophied labia majora. The urethra was displaced to the left and opened in the vestibule. Both patients had a spinal malformation (one with tethered cord and one with spina bifida) and a normal karyotype. steroids and interferon allowed near-complete resolution of hemangiomas in both patients. The authors were impressed by the similarity of these two cases and could not find any previous description of this association.
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10/202. myoepithelioma of soft tissue.

    A myoepithelioma occurred in the subcutaneous tissue of the right shoulder of a 28-year-old man. The well-demarcated nodular tumor (3. 0 x 2.8 cm) was located in the subcutaneous tissue with no adhesion to the deltoid muscle. The tumor was composed of a fascicular proliferation of spindle cells with variable amounts of stroma and showed areas of sheets of epithelioid cells. In most areas, the tumor cells had uniform nuclei, but pleomorphic epithelioid cells were focally present. Mitotic activity was three per 10 high-power fields. No ductular structure was found throughout the tumor. Immunohistochemical and ultrastructural studies confirmed the myoepithelial origin of the tumor cells. The occurrence of myoepithelioma in the subcutaneous tissue has been rarely reported. Even though the tumor showed no aggressive behavior on the 2-year follow-up, it is still too early to comment definitely on the behav- ior of myoepithelioma of the subcutaneous tissue. This case provides further information about soft tissue myoepithelioma.
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