MyMedR

Fulltext Avoiding diagnostic pitfalls in mimics of neoplasia: the importance of a comprehensive diagnostic approach

Samsudin EZ, Kamarul T, Mansor A

Singapore Med J, 2015 May;56(5):e92-5.

PMID: 26034328 DOI: 10.11622/smedj.2015082

Any medical diagnosis should take a multimodal approach, especially those involving tumour-like conditions, as entities that mimic neoplasms have overlapping features and may present detrimental outcomes if they are underdiagnosed. These case reports present diagnostic pitfalls resulting from overdependence on a single diagnostic parameter for three musculoskeletal neoplasm mimics: brown tumour (BT) that was mistaken for giant cell tumour (GCT), methicillin-resistant Staphylococcus aureus osteomyelitis mistaken for osteosarcoma and a pseudoaneurysm mistaken for a soft tissue sarcoma. Literature reviews revealed five reports of BT simulating GCT, four reports of osteomyelitis mimicking osteosarcoma and five reports of a pseudoaneurysm imitating a soft tissue sarcoma. Our findings highlight the therapeutic dilemmas that arise with musculoskeletal mimics, as well as the importance of thorough investigation to distinguish mimickers from true neoplasms.

Matched MeSH terms: Soft Tissue Neoplasms/diagnosis

Mycetoma or synovial sarcoma? A case report with review of the literature

Jimenez AL, Salvo NL

J Foot Ankle Surg, 2011 Sep-Oct;50(5):569-76.

PMID: 21616683 DOI: 10.1053/j.jfas.2011.04.014

Mycetoma, also commonly referred to as Madura foot, is statistically rare in the United States. However, it is endemic to other parts of the world. It is a pseudotumor characterized by a triad of tumefaction, draining sinuses, and grains. Two types exist, with each caused by different groups of organisms that require different treatment approaches. Therefore, the exact diagnosis and culture of the organism is vital to successful treatment outcomes. Synovial sarcoma, in contrast, is a malignancy much more commonly seen in the United States. It is characterized by a well-circumscribed, often palpable, mass that is usually well delineated on magnetic resonance imaging. It has characteristic histologic and genetic features that help distinguish it from other soft tissue masses. We present a case of a soft tissue mass diagnosed in the United States. The patient had several clinical and radiographic features of synovial sarcoma but the histologic outcome was mycetoma. The case is followed by a review of the published data.

Matched MeSH terms: Soft Tissue Neoplasms/diagnosis

Li-Fraumeni syndrome in a Malaysian kindred

Ariffin H, Martel-Planche G, Daud SS, Ibrahim K, Hainaut P

Cancer Genet. Cytogenet., 2008 Oct;186(1):49-53.

PMID: 18786442 DOI: 10.1016/j.cancergencyto.2008.06.004

We report on a Malaysian kindred with Li-Fraumeni syndrome. The proband was an 8-year-old girl who presented with embryonal rhabdomyosarcoma of the trunk at the age of 8 months and developed a brain recurrence at the age of 7 years, which was 5 years after remission. A younger sister later developed adrenocortical carcinoma at the age of 6 months. Their mother and maternal grandmother were diagnosed with breast cancer at the ages of 26 and 38 years, respectively. TP53 mutation detection in this family revealed a duplication of a GGCGTG motif starting at nucleotide 17579 in exon 10, resulting in an in-frame insertion of two amino acids between residues 334 and 336 in the tetramerization domain of the p53 protein. This mutation was found in the proband and her affected sister as well as her mother. In addition, the mutation was detected in two other siblings (a brother aged 3 years and a sister aged 18 months) who have not yet developed any malignancy. Sequencing of TP53 in the father and two other asymptomatic siblings revealed wild-type TP53. To our knowledge, this is a first report of a Li-Fraumeni syndrome family in Southeast Asia.

Matched MeSH terms: Soft Tissue Neoplasms/genetics

Fulltext Does lightning strike twice?

Qi Qi C, Ajit Singh V

BMJ Case Rep, 2012;2012.

PMID: 22892228 DOI: 10.1136/bcr.01.2012.5518

The authors present an interesting case under our follow-up who has had five different forms of tumours with different pathologies throughout his lifetime. He started off with hepatoma, followed by pleomorphic sarcoma of the thigh, adenocarcinoma of the prostate, meningioma and finally schwanoma. He is still alive to this date.

Matched MeSH terms: Soft Tissue Neoplasms/diagnosis; Soft Tissue Neoplasms/pathology*; Soft Tissue Neoplasms/therapy

Fulltext Cutaneous mycobacterial spindle cell pseudotumour

Tan GC, Yap YP, Shiran MS, Sabariah AR, Pathmanathan R

BMJ Case Rep, 2009;2009.

PMID: 21686408 DOI: 10.1136/bcr.11.2008.1221

Mycobacterial spindle cell pseudotumour (MSCP) has been reported in various sites, including skin, lymph nodes, bone marrow, lung and spleen. Cutaneous lesions are extremely rare and the differential diagnoses include various spindle cell lesions. Literature review shows that this lesion has preponderance for upper limb involvement and occurs largely in immunosuppressed individuals. We report a case of MSCP of the skin due to atypical mycobacterium and discuss the risk of misdiagnosis as a sarcoma.

Matched MeSH terms: Soft Tissue Neoplasms

Fulltext Rapidly Growing Huge Lower Back Malignant Peripheral Nerve Sheath Tumour

Abuzarifa N, Al-Chalabi MMM, Wan Sulaiman WA

Cureus, 2021 Mar 05;13(3):e13712.

PMID: 33842103 DOI: 10.7759/cureus.13712

Malignant peripheral nerve sheath tumours (also called neurofibrosarcomas) are a rare, highly aggressive soft tissue sarcomas that arise from the peripheral nerves or cells associated with the nerve sheath, such as Schwann cells, peri-neural cells and fibroblasts. It is representing 10% of all soft tissue sarcomas in which it is considered as an extremely rare malignancy, especially in patients with neurofibromatosis type I. In the general population, it affects approximately 1 in 100,000 people. This article is reporting a 56-year-old Malay female patient who is a known case of neurofibromatosis type I for 20 years, presented with a lower back, pruritic, gradually increasing swelling during the last five months. Last month before the presentation, the lesion rapidly grows, reaching a size of (15×15 cm), accompanied by foul-smelling discharge and pain exacerbated with movement. Although no history of preceding trauma or accident, the mass bleeds within contact. In conclusion, only a few cases of giant malignant peripheral nerve sheath tumours reported in the literature describing its location and growth progression. We present a massive, extremely rapid growth of cutaneous exophytic malignant peripheral nerve sheath tumours over the lower back.

Matched MeSH terms: Soft Tissue Neoplasms

Fulltext Central airway obstruction tumour debulking using rigid bronchoscopy and cryotherapy: a case report

Wai Heng Chew, Abdul Aziz Marwan, Ummi Nadira Daut, Rosmadi Ismail, Mona Zaria Nasaruddin, Jamalul Azizi Abdul Rahman

Malaysian Journal of Medicine and Health Sciences, 2020;16(108):75-77.

MyJurnal

Sarcomas usually frequented in the head and neck region of young adults. Trachea is a rare site, and due to scarce clinical data, its clinical outcome is unclear. We reported a case of 60-year old patient presented with progressive worsening shortness of breath, cough, and progressive worsening dysphagia. Computer tomography scan revealed extensive 2 lobulated soft tissue lesions within and surrounding the trachea at the T4 level. Rigid bronchoscopy with mass cryo-debulking was performed and ultimately synovial sarcoma was diagnosed. Shortness of breath was com- pletely relieved post-procedure.

Matched MeSH terms: Soft Tissue Neoplasms

Fulltext Paratesticular aggressive angiomyxoma: A rare case

Ismail MI, Wong YP, Tan GH, Fam XI

Urol Ann, 2017 5 10;9(2):197-199.

PMID: 28479778 DOI: 10.4103/UA.UA_168_16

Aggressive angiomyxoma (AAM) particularly testicular origin is a rare benign mesenchymal myxoid tumor which is locally aggressive, blatant for local recurrence, and may metastasize. It occurs mostly in females of childbearing age and extremely rare in males. AMM particular testicular origin is not reported in literature yet. This is a 65-year-old man who had a right scrotal swelling. Ultrasound scrotum showed a soft tissue tumor of the right testis. The patient underwent radical right orchidectomy of which histopathologically confirmed to be a paratesticular AAM with clear resection margins. There were no signs of local recurrence or metastasis 2 years postsurgical resection.

Matched MeSH terms: Soft Tissue Neoplasms

Fulltext Oncogenic osteomalacia, you say? better start looking then - a case report

Vijay, A.P., Tan, A.T.B., Suhaida, A.M., Chan, S.P.

JUMMEC, 2010;13(1):63-68.

MyJurnal

Tumour-induced or oncogenic osteomalacia (OOM) is a rare paraneoplastic syndrome characterized by bone pain and muscle weakness. A biochemical profile consisting of normocalcaemia, hypophosphataemia, phosphaturia, increased serum alkaline phosphatase and inappropriately low serum levels of 1, 25-dihydroxyvitamin-D is diagnostic. OOM is usually caused by an osseous or soft-tissue tumour of mesenchymal origin that secretes phosphaturic substances leading to increased urinary phosphate wasting. These tumours are small and slow growing. The diagnosis continues to be easily missed and when eventually made, localization of the tumour can be difficult. We describe the case of a young man who presented with severe generalized pain associated with muscle weakness. He was extensively investigated and eventually diagnosed to have OOM 3 years after initial presentation. Specialized investigations were necessary to localize the offending tumour.

Matched MeSH terms: Soft Tissue Neoplasms

Fulltext Solitary fibrous tumour of the submandibular region: a rare entity

Noor Liza Ishak, Primuharsa Putra Sabir Athar Husin, Suria Hayati Md Pauzi, Isa Mohd Rose, Mohd Razif Mohamad Yunus

Malaysian Journal of Medicine and Health Sciences, 2016;12(2):53-55.

MyJurnal

Solitary fibrous tumours of the head and neck region are
extremely rare. The clinical diagnosis is often difficult to
establish, and this lesion may be indistinguishable from other
soft tissue neoplasms. An 18-year old Chinese gentleman
presented with a painless right submandibular swelling which
was increasing in size for eight months. A computed
tomography scan showed a well-defined solid mass measuring
about 2.0 x 2.96 cm in the submandibular region. The tumour
was resected and was confined within its capsule.
Immunohistochemical staining was strongly positive for CD34,
CD 99, and vimentin and negative for desmin, smooth muscle
actin (SMA), cytokeratin, S100 and CD68. The microscopic and
immunohistochemical profile were compatible with solitary
fibrous tumour. Distinguishing solitary fibrous tumours from
various spindle neoplasms can be difficult. In view of the
resemblance, immunohistochemical staining can help
differentiate solitary fibrous tumour from spindle neoplasm.

Matched MeSH terms: Soft Tissue Neoplasms

Fulltext Radical resection of primary leiomyosarcoma of inferior vena cava

Ikhwan Sani Mohamad, Sivabalan Nadarajan, Azim Idris, Hairol Othman, Affirul Chairil, Razman Jarmin

Malaysian Journal of Medicine and Health Sciences, 2018;14(1):61-64.

MyJurnal

Leiomyosarcoma of the Inferior Vena Cava (IVC) is a rare soft tissue tumour which accounts for only 0.5% of all soft tissue sarcomas. The patients usually presented with non specific clinical signs and often diagnosed at advanced stage. We reported a case of a 58-year-old lady who presented with right sided abdominal pain for 6 months. CT scan showed large Level 2 IVC tumour which encased the right renal vein and had no clear plane of demarcation with the caudate lobe of the liver. She underwent radical resection of the IVC tumour with the right kidney removed en bloc. Vascular reconstruction was not performed as established collateral veins present. She was nursed in Intensive Care Unit for 2 days and discharged well at day 5 post operatively. Histopathological examination results revealed leiomyosarcoma of IVC.

Matched MeSH terms: Soft Tissue Neoplasms

Extraskeletal myxoid chondrosarcoma of the thigh in a child: a case report

Ibrahim ZA, Chan WH, Wong SL, Ong EJ, Narihan MZ

J Orthop Surg (Hong Kong), 2014 Dec;22(3):423-6.

PMID: 25550031

Extraskeletal myxoid chondrosarcoma (EMC) is aggressive in children. The condition in children differs to that in adults and to skeletal myxoid chondrosarcoma. We report on a 9-year-old girl with EMC in her left thigh. She underwent above-knee amputation. Five months later, a small mass was noted at the right lower lobe of the lung. The patient underwent one course of ifosfamide, carboplatin, and etoposide chemotherapy, followed by resection of the mass and 8 more courses of chemotherapy. At the 2-year follow-up, she was in remission radiologically.

Matched MeSH terms: Soft Tissue Neoplasms/pathology; Soft Tissue Neoplasms/surgery*

Fulltext Paraneoplastic Secretion of Multiple Phosphatonins From a Deep Fibrous Histiocytoma Causing Oncogenic Osteomalacia

Leow MKS, Dogra S, Ge X, Chuah KL, Liew H, Loke KSH, et al.

J Clin Endocrinol Metab, 2021 04 23;106(5):e2299-e2308.

PMID: 33462615 DOI: 10.1210/clinem/dgaa964

CONTEXT: Literature suggests that oncogenic osteomalacia is usually caused by a benign mesenchymal tumor secreting fibroblast growth factor subtype-23 (FGF-23), but the involvement of other phosphatonins has only been scarcely reported. We have previously published a seemingly typical case of oncogenic osteomalacia. Following curative neoplasm resection, we now report unique molecular characteristics and biology of this tumor.

CASE DESCRIPTION: A 25-year-old man had been diagnosed with severe oncogenic osteomalacia that gradually crippled him over 6 years. 68Ga-DOTA-TATE positron emission tomography/computed tomography scan localized the culprit tumor to his left sole, which on resection revealed a deep fibrous histiocytoma displaying a proliferation of spindle cells with storiform pattern associated with multinucleated giant cells resembling osteoclasts. Circulating FGF-23, which was elevated more than 2-fold, declined to undetectable levels 24 h after surgery. Microarray analysis revealed increased tumor gene expression of the phosphatonins FGF-23, matrix extracellular phosphoglycoprotein (MEPE) and secreted frizzled-related protein subtype 4, with elevated levels of all 3 proteins confirmed through immunoblot analysis. Differential expression of genes involved in bone formation and bone mineralization were further identified. The patient made an astonishing recovery from being wheelchair bound to fully self-ambulant 2 months postoperatively.

CONCLUSION: This report describes oncogenic osteomalacia due to a deep fibrous histiocytoma, which coincidentally has been found to induce profound muscle weakness via the overexpression of 3 phosphatonins, which resolved fully upon radical resection of the tumor. Additionally, genes involved in bone formation and bone remodeling contribute to the molecular signature of oncogenic osteomalacia.

Matched MeSH terms: Soft Tissue Neoplasms/diagnosis; Soft Tissue Neoplasms/etiology*; Soft Tissue Neoplasms/genetics; Soft Tissue Neoplasms/metabolism

Fulltext Sporotrichosis atypical presentation as a soft tissue tumour

Ramli R, Abd Rashid AH, Phang KS, Khaithir TM

Malays J Pathol, 2009 Dec;31(2):143-5.

PMID: 20514859 MyJurnal

Sporotrichosis is a mycosis caused by a saprophytic dimorphic fungus named Sporothrix schenckii. Infections occur following traumatic inoculation of fungus from plants and infected cat bites and scratches. We report a case of a farmer who presented with a solitary subcutaneous nodule initially diagnosed as a soft tissue tumour. A history of agricultural activity and feline contact should draw the clinician's attention to sporotrichosis, as the diagnosis can be easily missed in atypical cases. The diagnosis, microbiology and management of the case are discussed.

Matched MeSH terms: Soft Tissue Neoplasms/diagnosis*

Non-ulcerative soft tissue mycosis of long duration mimicking soft tissue sarcoma--a case report

Omar E, Murugesan A, Bakar NH, Wan Z

Southeast Asian J. Trop. Med. Public Health, 2005 Nov;36(6):1530-2.

PMID: 16610657

Soft tissue mycosis usually presents with a triad of tumefaction, suppuration and ulceration. We report an unusual case of soft tissue mycosis in a 42-year-old male teacher who presented with painless swelling over the anterolateral aspect of the right shin for 4 years duration.

Matched MeSH terms: Soft Tissue Neoplasms/diagnosis*

Extensive left ventricular, pulmonary artery, and pericardial metastasis from myxoid liposarcoma 16 years after the initial detection of the primary tumour: a case report and review of the literature

Motevalli D, Tavangar SM

Malays J Pathol, 2017 Aug;39(2):201-205.

PMID: 28866706

Liposarcoma is regarded as the second most common soft tissue malignant tumour. Metastasis of liposarcoma to the heart is very rare, and to date, less than 40 cases have been reported in the literature. We report a 46 year-old male with myxoid liposarcoma of the lower extremity who developed extensive metastasis to the left ventricle, pulmonary artery, and pericardium. The patient presented with acute symptoms of dyspnea 16 years after surgical resection of the primary tumour, and his dyspnea progressed to cardio-respiratory arrest within the first few days of hospital admission.

Matched MeSH terms: Soft Tissue Neoplasms/pathology*

Fulltext Blockade of c-Met-Mediated Signaling Pathways by E7050 Suppresses Growth and Promotes Apoptosis in Multidrug-Resistant Human Uterine Sarcoma Cells

Huang TT, Chen CM, Lan YW, Lin SS, Choo KB, Chong KY

Int J Mol Sci, 2022 Nov 28;23(23).

PMID: 36499211 DOI: 10.3390/ijms232314884

E7050 is a potent inhibitor of c-Met receptor tyrosine kinase and has potential for cancer therapy. However, the underlying molecular mechanism involved in the anti-cancer property of E7050 has not been fully elucidated. The main objective of this study was to investigate the anti-tumor activity of E7050 in multidrug-resistant human uterine sarcoma MES-SA/Dx5 cells in vitro and in vivo, and to define its mechanisms. Our results revealed that E7050 reduced cell viability of MES-SA/Dx5 cells, which was associated with the induction of apoptosis and S phase cell cycle arrest. Additionally, E7050 treatment significantly upregulated the expression of Bax, cleaved PARP, cleaved caspase-3, p21, p53 and cyclin D1, while it downregulated the expression of survivin and cyclin A. On the other hand, the mechanistic study demonstrated that E7050 inhibited the phosphorylation of c-Met, Src, Akt and p38 in HGF-stimulated MES-SA/Dx5 cells. Further in vivo experiments showed that treatment of athymic nude mice carrying MES-SA/Dx5 xenograft tumors with E7050 remarkably suppressed tumor growth. E7050 treatment also decreased the expression of Ki-67 and p-Met, and increased the expression of cleaved caspase-3 in MES-SA/Dx5 tumor sections. Therefore, E7050 is a promising drug that can be developed for the treatment of multidrug-resistant uterine sarcoma.

Matched MeSH terms: Soft Tissue Neoplasms*

Fulltext Giant epidermoid cyst of the thigh

Mohamed Haflah N, Mohd Kassim A, Hassan Shukur M

Malays Orthop J, 2011 Nov;5(3):17-9.

PMID: 25279030 MyJurnal DOI: 10.5704/MOJ.1111.001

Epidermoid cyst is a common benign cutaneous swelling frequently encountered in surgical practice. It usually presents as a painless lump frequently occurring in hairbearing areas of the body particularly the scalp, scrotum, neck, shoulder and back. Giant epidermoid cysts commonly occur in hairy areas such as the scalp. We present here the case of a rare occurrence of a giant epidermoid cyst in the less hairy area of the right upper thigh mimicking a soft tissue sarcoma. Steps are highlighted for the management of this unusual cyst.

Matched MeSH terms: Soft Tissue Neoplasms

Fulltext Aural polyp with facial asymmetry in an unfortunate infant

Zubir FS, Saniasiaya J, Abdul Gani H

Malays Fam Physician, 2021 Mar 25;16(1):133-135.

PMID: 33948154 DOI: 10.51866/cr1070

Temporal bone rhabdomyosarcoma is an aggressive entity that simulates chronic otitis ear infection. It is the most common soft tissue sarcoma amongst pediatric patients. Herein, we would like to report a case of temporal bone rhabdomyosarcoma involving a 2-year-old boy who presented with a one-month history of otorrhea with facial asymmetry. Early treatment led to remission of this severe neoplasm.

Matched MeSH terms: Soft Tissue Neoplasms

Fulltext Tissue Diagnosis for Musculoskeletal Tumours

Saw, A.

Malays Orthop J, 2007;1(2):1-2.

MyJurnal

Musculoskeletal tumour is much less common compared to tumours of epithelial origin. Most of these tumours are benign, with only about 1% malignant in nature. A general orthopaedic surgeon may only come across a malignant primary bone or soft tissue tumour a few times in his entire medical career. The current recommendation is for these conditions to be investigated and treated in centres with musculoskeletal oncology service. Careful clinical evaluation with appropriate plain radiography can provide adequate information for definitive diagnosis and treatment for most cases, especially the benign tumours. For some other cases, further investigations will be necessary. Magnetic resonance imaging (MRI) can provide excellent details on anatomical location of a tumour and delineate vital structures that may have been distorted by the lesion. For primary malignant tumours, computerized tomography scanning is still the gold standard for evaluation of pulmonary metastasis, and bone scan can allow early detection of distant metastasis to other bones. Whole body MRI has recently been recommended for tumour staging but the potential benefit for musculoskeletal tumour is not that convincing. PET may be very helpful for follow up detection of tumour recurrence but its role in diagnosis and staging of musculoskeletal tumours is still being evaluated...

Matched MeSH terms: Soft Tissue Neoplasms

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