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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
Synchronous glomus tumors in a distal digit: a case report

Noor MA, Masbah O, Lumpur K

J Hand Surg Am, 1997 May;22(3):508-10.
PMID: 9195463

Glomus tumors occurring synchronously in the subungual region and the pulp of a fingertip are extremely uncommon. Awareness of this will lead to early diagnosis and treatment.

Matched MeSH terms: Soft Tissue Neoplasms/pathology*; Soft Tissue Neoplasms/surgery
Successful treatment of very large congenital infantile fibrosarcoma

Hamidah A, Reena M, Halim ARA, Ibrahim S, Eguchi M, Zarina AL, et al.

Pediatr Int, 2011 Oct;53(5):768-770.
PMID: 21955012 DOI: 10.1111/j.1442-200X.2011.03358.x
Matched MeSH terms: Soft Tissue Neoplasms/congenital*; Soft Tissue Neoplasms/diagnosis; Soft Tissue Neoplasms/surgery
Fulltext Squamous cell carcinoma involving the tibia treated by reimplantation of autoclaved resected bone

Pan KL, Mourougayah V, Jayamalar T

Med J Malaysia, 2003 Dec;58(5):783-5.
PMID: 15190672

We present an elderly patient with a squamous cell carcinoma over the subcutaneous aspect of the leg involving the tibia. En bloc resection of the tumour together with a 10 centimetre segment of the tibia was done. The resected bone was autoclaved, replaced in its original position and stabilized with bone cement and a locked nail. This allowed early ambulation with minimal cost.

Matched MeSH terms: Soft Tissue Neoplasms/surgery*
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*
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 Small cell variant of anaplastic large cell lymphoma with positive immunoreactivity for CD99

Shiran MS, Tan GC, Sabariah AR, Chye PC, Pathmanathan R

Med J Malaysia, 2008 Jun;63(2):150-1.
PMID: 18942305 MyJurnal

A 13 year old boy presented with a huge mass on his right arm of 6 months duration. Histopathological examination revealed sheets of malignant small round blue cells with immunopositivity for LCA, CD43, CD45Ro, CD30, EMA, ALK-1 and CD99, and negativity for CD20, TdT, myogenin, myoD1, NSE, bcl-6, bcl-2 and CD10. Fluorescent In-Situ Hybridization (FISH) testing excluded the diagnosis of Ewing's sarcoma/PNET. Pathologists need to be aware of the diagnosis of a small cell variant of ALCL, as well as of the fact that CD99 expression commonly occurs in cases of ALK-positive ALCL, in order to distinguish this entity from Ewing's sarcoma/PNET.

Matched MeSH terms: Soft Tissue Neoplasms/immunology*; Soft Tissue Neoplasms/pathology
Recurrence of multiple myeloma with soft tissue plasmacytoma presenting as unilateral proptosis

Pan SW, Wan Hitam WH, Mohd Noor RA, Bhavaraju VM

Orbit, 2011 Mar;30(2):105-7.
PMID: 21322793 DOI: 10.3109/01676830.2010.546553

To describe a rare case of soft tissue plasmacytoma of the orbit presenting with proptosis.

Matched MeSH terms: Soft Tissue Neoplasms/diagnosis*; Soft Tissue Neoplasms/radiotherapy
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 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
Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma - a rare vascular neoplasm with deceptive morphology and distinctive immunophenotype

Cheo FF, Sittampalam K

Malays J Pathol, 2017 Dec;39(3):305-309.
PMID: 29279595

Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma is a rare, low grade vascular (endothelial) neoplasm typically presenting as multicentric, superficial to deep nodules in extremities with a slight tendency of affecting young adult males. We report a case of pseudomyogenic hemangioendothelioma in a 15-year-old boy presenting initially with a 1 cm right thigh painless cutaneous lump. The lump was excised with the clinical impression of a sebaceous cyst. On microscopy, a poorly circumscribed, mild to moderately atypical spindle cell lesion in fascicular and storiform patterns with strikingly myoid-like eosinophilic cytoplasm was identified. The spindle cells were highlighted by pancytokeratin AE1/AE3, CD31, and ERG with retained INI-1, while being negative for MNF116, S100, CD34, EMA, desmin, SMA, caldesmon, myogenin, MyoD1, HHV-8 and CD163. Following the first diagnostic report, a positron emission tomography-computed tomography (PET-CT) scan revealed another 4 cm ill-defined nodule accompanied by a smaller adjacent 0.7 cm ipsilateral satellite nodule within the right psoas muscle that displayed similar morphology and immunophenotype as the cutaneous lump, supporting the multicentric feature of this unique entity. It is an uncommon yet increasingly recognised neoplasm of endothelial origin possessing a misleading myoid morphology and distinctive immunophenotype worth notifying.

Matched MeSH terms: Soft Tissue Neoplasms/pathology*
Preoperative lymphocyte count in relation to sarcoma prognosis

Teck Seo S, Singh VA, Yasin NF

J Orthop Surg (Hong Kong), 2019 6 22;27(2):2309499019854957.
PMID: 31221016 DOI: 10.1177/2309499019854957

PURPOSE: Inflammation plays a major role in tumour development, progression and metastasis. Multiple inflammatory markers such as absolute lymphocyte count, neutrophil-lymphocyte ratio (NLR), lymphocyte-monocyte ratio (LMR) and platelet-lymphocyte ratio have been discovered as prognostic markers for various malignancies. We investigate preoperative lymphocyte count and other cell count ratios and their relation to survival and prognosis of sarcoma patients after surgery.
METHODS: A total of 142 patients from the Orthopaedics Oncology Database were included into this retrospective study. Kaplan-Meier curve and multivariate Cox proportional models were used to calculate the overall survival of patients with sarcoma who underwent radical excision surgery.
RESULTS: High preoperative LMR is significantly associated with better overall survival and prognosis in sarcoma patients, whereas high preoperative NLR is significantly associated with shorter overall survival and poorer prognosis. Multivariate analysis shows that LMR and NLR are good predictors for overall survival at 3 and 5 years after surgery, respectively. Patients with high preoperative lymphocytes count are associated with longer overall survival, but this association is not statistically significant. Our findings suggest that preoperative NLR and LMR are good predictive markers for survival of sarcoma patients.
CONCLUSION: LMR and NLR can be used to identify patients at risk for poor clinical outcome, so that a more aggressive course of treatment can be applied to improve outcome. These are cost-effective prognostic tools as they are calculated from routine preoperative peripheral blood counts. In conclusion, preoperative NLR and LMR are good prognostic markers for predicting the clinical outcome of patients with sarcoma.

Matched MeSH terms: Soft Tissue Neoplasms/pathology*; Soft Tissue Neoplasms/surgery
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 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 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
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*
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
Fulltext Monophasic spindle cell myxoid synovial sarcoma of the hand: promising results with marginal resection

Vijayan S, Mohammed AP, Kulkarni MS, Rao SK

BMJ Case Rep, 2021 Jan 28;14(1).
PMID: 33509874 DOI: 10.1136/bcr-2020-238366

Synovial sarcomas are deep-seated, genetically distinct, malignant neoplasms seen in young adults, with a male preponderance. They have unusual clinical and pathological presentation and mimic many other sarcomas and carcinomas, making the diagnosis quite challenging. Although four variants are identified, occurrence in the hand is extremely rare and leads to significant morbidity. There is a high incidence of local recurrence and distant metastasis within the first 2 years. We report the case of an elderly woman with monophasic spindle cell synovial sarcoma who presented with painless swelling in her palm and underwent local excision of the neoplasm. At 2-year follow-up, she remains totally asymptomatic with normal function of the hand. We also attempt to give an overview about monophasic spindle cell synovial sarcoma with the differentials, which would help surgeons in prompt diagnosis and appropriate management.

Matched MeSH terms: Soft Tissue Neoplasms/pathology; Soft Tissue Neoplasms/surgery*
Malignant peripheral nerve sheath tumour with perineurial differentiation and hyaline eosinophilic globules (thanatosomes): A rare tumour

Abdelzaher E, Elwany A, Amr SA

Malays J Pathol, 2018 Dec;40(3):355-358.
PMID: 30580369

Malignant peripheral nerve sheath tumour (MPNST) with perineurial differentiation is a rare variant of MPNST. The pathological features and clinical significance of this variant remain to be characterised. We reported the clinicoradiological and pathological features of a case of recurrent right arm mass related to the ulnar nerve in a 42-year-old female patient. On pathological examination, the tumour showed dual features of conventional and perineurial MPNST which was proven by positive immunostaining for S-100 and EMA. The pathological diagnosis was MPNST with perineurial differentiation. In addition, a peculiar and rare finding of intracytoplasmic eosinophilic hyaline globules (thanatosomes) within tumour cells is reported. We document a rare tumour with hybrid features between conventional and perineurial MPNSTs. Further studies are needed to establish its biological behaviour.

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

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