Soft tissue tumours are a group of remarkably diverse neoplasms that frequently pose significant diagnostic challenges to general pathologists. This study aimed to compare the agreement of histopathological diagnoses between general pathologists from various referral institutes and the referred soft tissue pathologist in a tertiary centre. The common discrepancies and their causes are also presented here. A retrospective study was conducted on 243 cases of potential soft tissue tumours referred to Hospital Kuala Lumpur, Malaysia over a period of 5 years. Reports by the referring pathologists and the soft tissue pathologist were compared based on tumour classification and tumour behaviour. Overall, there was moderate agreement in soft tissue tumour diagnoses in both tumour classification (weighted κ = 0.423) and tumour behavior (weighted κ = 0.548). The highest agreement of tumour classification was seen in the adipocytic tumours (21/28 cases), Ewing sarcoma (5/7 cases) and smooth-muscle tumours (3/5 cases). The highest rates of discrepancies were the so-called fibrohistiocytic tumours (7/11 cases), vascular tumours (9/15 cases) and undifferentiated/ unclassified sarcomas (19/32 cases). Full agreement for tumour behaviour was seen in 178 cases and there were 21 cases of zero agreement. Liposarcoma, alveolar soft part sarcoma and benign fibrous histiocytoma were the most frequent benign/malignant diagnostic discrepancies. The most common causes of discrepancy were wrong morphological interpretation followed by insufficient immunohistochemical stains performed. In conclusion, review of diagnosis by a pathologist specialized in soft tissue improves the quality of diagnosis in these heterogenous and rare tumours. A good panel of immunohistochemical stains with additional molecular study is crucial in the general hospital laboratories practice.
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.
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.
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.
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.
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.
Epithelioid sarcoma is a very infrequent soft tissue sarcoma involving predominantly distal extremities of adolescent and young adult. We hereby report a case of epithelioid sarcoma in a 34-year-old young adult who presented with 1-year history of a painful left upper limb associated subsequently with warm left forearm swelling and a Volkman contracture. He was treated as an inflamed soft tissue condition of the left upper limb. A computed tomography study showed presence of multiple hypodense lesions mainly in the flexor compartment of the left arm as well at the subcutaneous tissue, which measured 1 to 1.7 cm in diameter. Histological examination of the left upper limb mass showed nodular proliferation of epithelioid tumour cells and some with rhabdoid features surrounding a central zone of necrosis and was diagnosed as epithelioid sarcoma. Concurrent presence of epithelioid sarcoma and Volkman ischaemic contracture are rarely seen in clinical practice. The present case highlights the importance of the histology which can be confused with other types of sarcoma or chronic granuloma and even missed at times thereby causing diagnostic problems.
Liposarcoma is the second most common soft tissue sarcoma in adults with a peak incidence between the 4th and 6th decade of life and slight preponderance to the male gender. It originates from multipotential primitive mesenchymal cells, rather than mature adipose tissue.
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.
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.
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.
Giant cell tumors are commonly found over the flexor tendon sheath of the hand and wrist. However, giant cell tumors in the knee joint are rare, especially in children. We report an interesting case of an 11-year-old girl who presented with a painful lump on her right knee that enlarged over time. Clinically, she had fullness over the anterolateral part of her knee. Magnetic resonance imaging revealed an encapsulated mass inferior to the patella. The tumor measured 3 x 3.5 x 1.5 cm. Histopathological findings confirmed that it was a tenosynovial giant cell tumor. Because of initial mild symptoms, there was a delay of 2 years from the initial symptoms until tumor excision. Her follow-up period was 35 months, and her health to date is excellent with no recurrence. We believe that reporting this rare case will help clinicians update their knowledge on possible causes of lumps in the knee, and avoid diagnostic delay. It could also prove to be beneficial in arriving at a diagnosis in future cases.
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.
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.
BACKGROUND: Extraskeletal (soft tissue) chondromas are rare neoplasms. They are seen most frequently in the soft tissues of hands and feet. A chondroma occurring in the breast is exceedingly uncommon. We present a case of pure chondroma of the breast in a young woman in whom fine needle aspiration (FNA) cytologic features suggested a cartilaginous neoplasm.
CASE: A 28-year-old woman presented with a mobile lump in the left breast. Mammography showed a high-density nodule without microcalcifications. A clinical diagnosis of fibroadenoma was made. A differential diagnosis was obtained on FNA. Excisional biopsy of the lump showed the histopathologic features of chondroma. There was no recurrence or appearance of new lesion during 13 months of follow-up.
CONCLUSION: Chondroma of the breast shows FNA cytologic features of cartilaginous tumor, but specific tumor typing may not be possible. This case highlights the difficulties that may arise in FNA diagnosis of cartilaginous tumor especially when it occurs at an unusual site. Awareness of the cytologic features combined with clinical and radiologic findings should guide the cytopathologist to make correct diagnosis of this neoplasm.
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.
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.
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.