Genomes and Genes
Affiliation: Royal Marsden Hospital
- Thway K, Noujaim J, Zaidi S, Miah A, Benson C, Messiou C, et al. Desmoplastic Small Round Cell Tumor: Pathology, Genetics, and Potential Therapeutic Strategies. Int J Surg Pathol. 2016;24:672-684 pubmed..We review DSRCT, discussing morphology and immunohistochemistry, molecular genetic findings, potential targeted treatments, and the differential diagnosis. ..
- Ben Salha I, Bhide S, Mourtzoukou D, Fisher C, Thway K. Solid Variant of Adenoid Cystic Carcinoma: Difficulties in Diagnostic Recognition. Int J Surg Pathol. 2016;24:419-24 pubmed publisher..This highlights the potential for diagnostic misinterpretation with a variety of other neoplasms, which is particularly important because of the significant difference in treatment for ACC and tumors in its differential diagnosis. ..
- Schneider N, Fisher C, Thway K. Ossifying fibromyxoid tumor: morphology, genetics, and differential diagnosis. Ann Diagn Pathol. 2016;20:52-8 pubmed publisher..We review OFMT, with emphasis on the morphologic spectrum, recent molecular genetic findings, and the differential diagnosis. ..
- Thway K, Abou Sherif S, Riddell A, Mudan S. Fibromatosis of the Sigmoid Colon With CTNNB1 (Î²-Catenin) Gene Mutation, Arising at the Site of Ileocolic Anastomosis for Resection of Gastrointestinal Stromal Tumor. Int J Surg Pathol. 2016;24:264-8 pubmed publisher..As imaging cannot reliably distinguish between these 2 entities, histological diagnosis is crucial for correct clinical management. ..
- Thway K, Nicholson A, Wallace W, Al Nafussi A, Pilling J, Fisher C. Endobronchial pulmonary angiomatoid fibrous histiocytoma: two cases with EWSR1-CREB1 and EWSR1-ATF1 fusions. Am J Surg Pathol. 2012;36:883-8 pubmed publisher..It is likely that cases of AFH in the lung may have been previously missed because of their morphologic and genetic overlap with other pulmonary lesions. ..
- Thway K, Strauss D, Wren D, Fisher C. 'Pure' spindle cell variant of angiomatoid fibrous histiocytoma, lacking classic histologic features. Pathol Res Pract. 2016;212:1081-1084 pubmed publisher..This is of clinical relevance, as AFH with this morphology could be potentially misdiagnosed as a high-grade sarcoma, with the patient subject to more radical therapeutic approaches. ..
- Thway K, Noujaim J, Jones R, Fisher C. Dermatofibrosarcoma protuberans: pathology, genetics, and potential therapeutic strategies. Ann Diagn Pathol. 2016;25:64-71 pubmed publisher..We review DFSP, discussing the morphologic spectrum and variants, immunohistochemistry, molecular genetic findings, potential targeted treatments, and the differential diagnosis. ..
- Thway K, Berney D, Hayes A, Fisher C. Giant intra-abdominal mature cystic teratoma (dermoid cyst) in an adult man, with male genitourinary tissue including prostatic and penile elements. Hum Pathol. 2016;54:1-7 pubmed publisher..The plasticity of the cells of differentiated teratoma, which enables it to undergo multidirectional differentiation, is well recognized, but the factors determining this distinct path of differentiation remain to be established. ..
- Wang J, Strauss D, Messiou C, Thway K. Endometriosis of Extra-Abdominal Soft Tissues: A Tertiary Center Experience. Int J Surg Pathol. 2016;24:497-503 pubmed publisher..Secondary changes, including carcinomas, can arise from endometriosis. The differential diagnosis of these lesions includes fibromatosis, which may be erroneously diagnosed on small, nonrepresentative core biopsy specimens. ..
- Vroobel K, Judson I, Dainton M, McCormick A, Fisher C, Thway K. ALK-positive inflammatory myofibroblastic tumor harboring ALK gene rearrangement, occurring after allogeneic stem cell transplant in an adult male. Pathol Res Pract. 2016;212:743-6 pubmed publisher..These neoplasms should be considered as a rare consequence of allogeneic stem cell transplantation and referral to a specialist sarcoma center for further management may be required. ..
- Hallin M, Schneider N, Thway K. Well-Differentiated Liposarcoma With Hibernoma-Like Morphology. Int J Surg Pathol. 2016;24:620-2 pubmed publisher..We highlight hibernoma-like morphology as part of the histologic spectrum of WDL, and recognition of this variant is important for correct treatment and prognostication. ..
- Thway K, Ng W, Noujaim J, Jones R, Fisher C. The Current Status of Solitary Fibrous Tumor: Diagnostic Features, Variants, and Genetics. Int J Surg Pathol. 2016;24:281-92 pubmed publisher..We review SFT, discussing the morphologic spectrum and variants, including malignant and dedifferentiated subtypes, clinicopathological aspects, recent molecular genetic findings, and the differential diagnosis. ..
- Mohamed M, Fisher C, Thway K. Low-grade fibromyxoid sarcoma: Clinical, morphologic and genetic features. Ann Diagn Pathol. 2017;28:60-67 pubmed publisher..We review LGFMS and SEF, discussing morphology and immunohistochemistry, genetics and molecular findings, and the differential diagnosis. ..
- Mohamed M, Gonzalez D, Fritchie K, Swansbury J, Wren D, Benson C, et al. Desmoplastic small round cell tumor: evaluation of reverse transcription-polymerase chain reaction and fluorescence in situ hybridization as ancillary molecular diagnostic techniques. Virchows Arch. 2017;471:631-640 pubmed publisher..However, in cases with appropriate morphology and a typical pattern of immunostaining, FISH is confirmatory of the diagnosis. ..
- Thway K, Gibson S, Ramsay A, Sebire N. Beta-catenin expression in pediatric fibroblastic and myofibroblastic lesions: a study of 100 cases. Pediatr Dev Pathol. 2009;12:292-6 pubmed publisher..beta-catenin is not expressed in other common pediatric fibroblastic and myofibroblastic lesions, and the Wnt pathway does not appear to play a role in their pathogenesis. ..
- Thway K, Mentzel T, Perrett C, Calonje E. Multicentric visceral epithelioid hemangioendothelioma, with extremity dermal deposits, unusual late recurrence on the nasal bridge, and TFE3 gene rearrangement. Hum Pathol. 2018;72:153-159 pubmed publisher..Characterization of the genetics of EHE is important because targeted therapies toward products of the specific WWTR1-CAMTA1 gene fusion may have an impact in the near future. ..
- Thway K, Rockcliffe S, Gonzalez D, Swansbury J, Min T, Thompson L, et al. Utility of sarcoma-specific fusion gene analysis in paraffin-embedded material for routine diagnosis at a specialist centre. J Clin Pathol. 2010;63:508-12 pubmed publisher..PCR is less sensitive than FISH, and the use of both techniques is optimal for maximising the detection rate of translocation-positive sarcomas. ..
- Thway K, Fisher C, Debiec Rychter M, Calonje E. Claudin-1 is expressed in perineurioma-like low-grade fibromyxoid sarcoma. Hum Pathol. 2009;40:1586-90 pubmed publisher..Although positivity for claudin-1 remains useful as an adjunct marker for perineurioma, it should be taken in context with clinical findings, morphology, and the additional immunoprofile. ..
- Thway K, Fisher C. Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: the current status. Am J Surg Pathol. 2012;36:e1-e11 pubmed publisher..We review the clinicopathologic and molecular features of this group of neoplasms unified by the presence of EWSR1-CREB1 and EWSR1-ATF1 genetic fusions. ..
- Thway K, Robertson D, Thway Y, Fisher C. Dedifferentiated liposarcoma with meningothelial-like whorls, metaplastic bone formation, and CDK4, MDM2, and p16 expression: a morphologic and immunohistochemical study. Am J Surg Pathol. 2011;35:356-63 pubmed publisher..The CDK4, MDM2, and p16 expression in the whorls suggests that they share a similar genetic background to well-differentiated and dedifferentiated liposarcoma, and that additional genetic events are causal to their distinct morphology...