Primary ovarian synovial sarcoma

Synovial sarcoma (SS) has a rare occurrence in the female genital tract. Only three prior reports of primary ovarian sarcoma could be retrieved after a thorough literature review. We are reporting a case of primary ovarian SS in a young woman. The tumour showed monophasic spindle cell morphology, and there was a wide list of differential diagnosis to consider. We confirmed the diagnosis by cytogenetics Flourescent Insitu Hybridisation (FISH) technique to identify the classical translocation. The diagnosis of this disease can be challenging especially if the tumour is of monophasic type. Morphology and immunohistochemistry are not enough to confirm the diagnosis in many cases. A confirmatory molecular pathology test is paramount. We have discussed the differential diagnosis of spindle cell tumours in ovary. We suggest that SS should be in the differential diagnoses when facing any atypical spindle cell tumour in the ovary. Molecular pathology techniques can help to confirm the diagnosis.

Pediatric extramammary myofibroblastoma in the head and neck region: a case report

<p>A rare form of mesenchymal neoplasm that typically presents in older men and women is mammary myofibroblastoma. Even so rarely, these benign tumours may occur outside of the breasts in soft tissues; which then are called mammary-type myofibroblastoma. There can be marked variability in the histological composition of these benign spindle cell tumours. Along the milk line is the commonest presentation of these extramammary myofibroblastoma. Here we have an 8 years old female patient presented to the department of otorhinolaryngology with a painless, fusiform swelling over the right lateral aspect of tongue in the past 6 months. Intra oral examination revealed a non-tender, non-ulcerated fusiform shaped mass approximately 3×2 cm firm in consistency arising from the right lateral border of the tongue. FNAC was done which showed spindle cell tumour tongue. The lesion was diagnosed as mammary type myofibroblastoma on immunohistochemistry.</p>

MED12, TERT and RARA in fibroepithelial tumours of the breast

Fibroepithelial tumours are biphasic neoplasms of the breast comprising the common benign fibroadenomas and the less common phyllodes tumours (PTs), which have recurrent potential. PTs are classified into benign, borderline or malignant, based on five histopathological criteria, with malignant PTs having the highest metastatic capability. Accurate diagnosis can be challenging due to the subjective assessment of histopathological parameters. Fibroadenomas bear morphological similarities to benign PTs, while borderline and malignant PTs can sometimes be difficult to distinguish from other spindle cell tumours of the breast. From clonality studies to whole-genome sequencing, much research has been conducted to elucidate the molecular pathogenesis of fibroepithelial tumours, which, in turn, have allowed leveraging the findings for diagnostic applications, including grading of PTs. The most noteworthy discovery was of recurrent MED12 mutations in both fibroadenomas and PTs. Subsequent studies also uncovered relatively frequent genetic mutations in TERT promoter and RARA. A customised panel of 16 most frequently mutated genes in fibroepithelial tissues has been compiled previously and has contributed to resolving a few diagnostic dilemmas. This review will introduce the 16 genes and focus on the top three that are most frequently mutated in fibroepithelial tumours: MED12, TERT, and RARA.

Histopathological spectrum of spindle cell tumours of gastro-intestinal tract

Background: Spindle cell lesions of gastro-intestinal tract (GIT) are relatively uncommon tumours compared to epithelial tumours. The anatomic location of spindle cell tumour is important, whether the tumour is located in mucosa, submucosa or muscularis propria.Methods: Authors endeavoured to study the histopathological spectrum of spindle cell lesions for a period of one year from January 2018 to December 2018 in our hospital.Results: This was a prospective study of 1 year starting from January 2018 to December 2018. A total of 30 cases of spindle cell lesions of gastrointestinal tract were seen. Out of 30 cases 23 were gastrointestinal stromal tumours (GIST), 2 cases were schwannomas, 2 cases were of leiomyomas, 1 case was fibromatosis, 1 case was inflammatory fibroid polyp, and one case was inflammatory myofibroblast tumour.Conclusion: GISTs are the commonest spindle cell tumours of GIT. Besides GIST, there are other spindle cell tumours which range from benign to malignant, and need to be differentiated from GIST for proper management.

SOLITARY FIBROUS TUMOR OF BREAST

Solitary fibrous tumours (SFTs) are fibroblastic mesenchymal tumour primarily identified in the pleura but are now being reported in other anatomic sites as well. SFT is generally characterised as a radiologically confined neoplasm composed of a proliferated spindle cells arranged in patternless manner. Intervening tissue shows prominent haemangiopericytoma-like vessels. Stroma is usually fibrous. Tumour is positive for CD34. SFT has a specific translocation representing fusion NAB2 with STAT6 genes. This translocation can be highlighted with very good specificity and sensitivity using STAT6 immunohistochemical stain. Some cases of SFTs have also been described in the breast. Rarely, SFT can show aggressive behaviour. SFT enters the differential diagnoses of benign and malignant spindle cell tumours of breast and it is, therefore, important that its clinical, radiological and pathological features are known to clinicians and diagnosticians. Key words: CD34, myofibroblastoma, NAB2-STAT6, solitary fibrous tumour

Mycobacterial spindle cell pseudotumour: epidemiology and clinical outcomes

IntroductionMycobacterial spindle cell pseudotumour (MSP) is a rare disease characterised by tumour-like local proliferation of spindle-shaped histiocytes containing acid-fast positive mycobacteria. The aim of this literature review is to describe the clinical parameters and treatment outcomes of patients with MSP.MethodsA literature search was conducted using the search terms related to mycobacteria and spindle cell tumours. A previously unreported stem cell transplant recipient from our institution diagnosed with MSP was also included. Demographics, comorbidities, site of infection, treatment and clinical outcomes were analysed.ResultsFifty-one patients were analysed. Twenty-six (51%) had HIV infection.Mycobacterium aviumcomplex was the most frequent organism isolated in 24 (47.1%) followed byMycobacterium tuberculosiscomplex in eight (16%) cases. Lymph nodes were the most common site of infection (45.1%). Twenty (39.2%) patients received antimycobacterial agents, 12 (23.5%) underwent surgical resection and six (11.8%) received antimycobacterial agents plus surgery. Treatment was successful in 24 (47.1%) patients and failed in 15 (29.4%); 13 of these 15 patients died. Antimycobacterial therapy was significantly associated with successful outcome compared with surgical resection or no treatment (P<0.001).ConclusionMSP is a rare condition associated primarily with immunodeficiencies. Antimycobacterial therapy is significantly associated withsuccessfuloutcome.