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The Diagnostic Utility of Calretinin in Deep Fibromatosis When Dilemma

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The Diagnostic Utility of Calretinin in Deep Fibromatosis When Dilemma ISSN: 2469-5807 Saad El-Din SA et al. Int J Pathol Clin Res 2020, 6:112 DOI: 10.23937/2469-5807/1510112 Volume 6 | Issue 2 International Journal of Open Access Pathology and Clinical Research ORIGINAL ARTICLE The Diagnostic Utility of Calretinin in Deep Fibromatosis when Dilemma of Spindle Cell Mimic Lesions are Considered: An Im- munohistochemical Study Somaia Ahmed Saad El-Din, MD* and Marwa Mosaad Shakweer, MD Check for Pathology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt updates *Corresponding author: Dr. Somaia Ahmed Saad El-Din, MD, Associate Professor, Pathology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt, Tel: 002-01121246413 Abstract Conclusion: Calretinin can be used to raise the diagnostic accuracy of fibromatosis versus other spindle cell lesions Background: Fibromatosis is a cellular spindle cell lesion especially when MPNST, synovial sarcoma, SFT, and GIST that may mimic dilemma of other spindle cell lesions, thus are considered in the differential diagnosis. Calretinin is many tools should be available for differentiation including also a good diagnostic marker for schwannoma. immunohistochemical markers. Nuclear beta catenin is a well known diagnostic marker for fibromatosis but with lim- Keywords ited specificity and frequent background stain. Calretinin is an intracellular calcium binding protein that is found to be Desmoid tumour, Deep fibromatosis, Immunohistochemis- expressed in many cell types. try, Calretinin, Spindle cell lesions Aim: Evaluate the expression of calretinin in abdominal Abbreviations wall and intra-abdominal types fibromatosis as well as other MPNST: Malignant Peripheral Nerve Sheath Tumor; LMS: mimic spindle cell lesions in a trial to improve the diagnostic Leiomyosarcoma; GIST: Gastrointestinal Stromal Tumor; accuracy of deep fibromatosis when other spindle cell le- SFT: Solitary Fibrous Tumor sions are suspected. Material and Methods: The study included 20 desmoid Introduction cases (abdominal wall fibromatosis) along with 7 cases of intra-abdominal mesenteric fibromatosis and other spin- Deep fibromatosis represents clonal myofibroblas- dle cell lesions including 11 MPNST (malignant peripheral tic proliferations that are prone to aggressive local re- nerve sheath tumor) cases, 15 cases LMS (leiomyosarco- ma), 5 cases synovial sarcoma, 9 cases SFT (solitary fi- currences but do not metastasize. It can develop as in- brous tumor), 19 cases GIST (gastrointestinal stromal tu- tra-abdominal, abdominal wall or extra-abdominal with mor), 12 cases Schwannoma and 13 cases neurofibroma all share the most of clinical, morphologic, immuno- which were retracted from the pathology files at Ain Shams histochemical, and molecular genetic features [1]. The University Hospitals with revision of all their available clini- diagnosis of abdominal wall desmoid tumor is usually cal data and available stained sections and then subjected to calretinin immunostain. straightforward by use of clinical and histopathological examination of hematoxylin and eosin (H&E) stained Results: Calretinin immunohistochemical expression was positive in 85.1% of deep fibromatosis cases including cas- sections that are enough to reach a definite final diag- es of desmoid tumor (18/20) and mesenteric fibromatosis nosis. On the other hand, the intra-abdominal and the (5/7) (48.1% patchy and 37% diffuse), 33.3% of LMS were extra-abdominal lesions sometimes show dilemma of presented by diffuse staining, 83.3% of schwannoma were the differential diagnoses and mostly immunohisto- presented by patchy staining. While all cases (100%) of chemical markers are added to reach a definite final MPNST, synovial sarcoma, SFT and GIST were negative for calretinin. Sensitivity was 85.2% and specificity 80.9% diagnosis [2]. with positive predictive value 59% and negative predictive Intra-abdominal fibromatosis, that developed from value 94%. mesentery mainly, but also may develop from omen- Citation: Saad El-Din SA, Shakweer MM (2020) The Diagnostic Utility of Calretinin in Deep Fibromato- sis when Dilemma of Spindle Cell Mimic Lesions are Considered: An Immunohistochemical Study. Int J Pathol Clin Res 6:112. doi.org/10.23937/2469-5807/1510112 Accepted: July 27, 2020: Published: July 29, 2020 Copyright: © 2020 Saad El-Din SA, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Saad El-Din SA et al. Int J Pathol Clin Res 2020, 6:112 • Page 1 of 7 • DOI: 10.23937/2469-5807/1510112 ISSN: 2469-5807 tum and retroperitoneum, is the most common prima- In the present study, we aimed to evaluate the ex- ry mesenteric tumor with most of the cases occurred pression of calretinin in deep fibromatosis cases (20 sporadic but some cases are associated with Gardner desmoid/abdominal wall) and 7 intra-abdominal (mes- syndrome. It is challenging entity with many other in- enteric) that were diagnosed on clinical and patholog- tra-abdominal and retroperitoneal spindle cell lesions ical assessment of the lesions as a trial to improve the including sclerosing mesenteritis, inflammatory myofi- diagnostic accuracy of fibromatosis lesion when other broblastic tumor, solitary fibrous tumor, desmoplastic spindle cell lesions are suspected. peritoneal mesothelioma, retroperitoneal spindle cell lesions especially well differentiated leiomyosarcoma, Material and Methods neuronal tumors, and idiopathic retroperitoneal fibrosis The present study was conducted on 27 deep fi- (Ormond’s disease) and with the most confusing enti- bromatosis cases (20 desmoid/abdominal wall and 7 ty is mesenteric GIST (gastrointestinal stromal tumor) mesenteric/intra-abdominal) that were collected from especially if fibromatosis encroaching on the intesti- the pathology files of the Pathology Department at Ain nal wall [3]. Although, there are some criteria on H&E Shams University Hospitals during the period from Jan- stained sections can help in differentiation, definite di- uary 2017 to December 2018. All cases were females agnosis mostly need application of immunostains. Many with age ranging from 23 to 35 years and were pre- immunohistochemical markers were tried and become sented by anterior abdominal wall mass for abdominal employed to reach a definite final diagnosis for each le- wall desmoids and mostly by intestinal obstruction for sion as DOG1 marker for GIST [4]. intra-abdominal mesenteric lesions. Cases were diag- Extra-abdominal fibromatosis may also resemble low nosed clinically and histopathologically including posi- grade malignant spindle cell lesion on one extreme and tive stain to nuclear beta catenin. Out of the 27 stud- the reactive process on the other with the differential ied cases there were 5 cases presented as core biopsy diagnosis including dilemma of lesions including differ- with all the remaining cases (22) were excision biopsy. entiated fibrosarcoma, low grade fibromyxoid sarcoma, Other spindle cell lesions which were confirmed by low grade myofibroblastic sarcoma, well differentiat- histopathological +/- immunohistochemistry for S100, ed leiomyosarcoma, myofibroma/myofibromatosis on SOX10, CD56, CD57, Protein gene product 9.5, SMA, H one hand and include nodular fasciitis and scar on the caldesmon, CD34, C-kit, DOG 1, EMA, Bcl2, CD99, TLE 1 other hand [5]. Moreover, in breast lesions, pathologist and CK were included in study as follows (MPNST: 11 should exclude low grade metaplastic carcinoma and cases, Schwannoma: 12 cases, neurofibroma: 13cases, malignant phyllodes tumor before considering the diag- LMS: 15 cases, GIST: 19 cases, synovial sarcoma: 5 cases nosis of fibromatosis [6,7]. and SFT: 9 cases). Strong nuclear staining to beta catenin is commonly The stained sections were revised by the two au- used for further confirmation of such diagnosis, but with thors to verify the histopathological diagnosis and to poor specificity as one of the studies was found that select the best representative sections for immunohis- beta catenin was expressed in 30% low-grade myofi- tochemical study. broblastic sarcomas, in 22% of solitary fibrous tumours, 20% of in infantile fibrosarcoma, in 6% of desmoplastic The material used in this study included only paraffin fibroblastomas and in 5% of gastrointestinal stromal tu- blocks as it was a retrospective and the patients were mor [8]. Also, it is difficult for interpretation because of unknown to the authors, and patients identity were background/nonspecific staining [2,9]. anonymous in the study design. Hence, no consent from the patient was required. Most sporadic desmoid tumors are associated with mutations of the β-catenin gene (CTNNB1) that can be Calretinin Immunostaining used as a specific diagnostic tool for the diagnosis of One paraffin block that best represented the le- desmoid tumors, but molecular tests are still not widely sion was selected for all cases. 5 microns thick tissue used in the countries with limited resources as it is much sections were cut from the paraffin blocks on positive more expensive than immunohistochemical studies and charge slides. Deparaffinization and rehydration were very limited if any molecular laboratories are available performed by treating the tissue sections in a micro- in these countries [10]. wave oven for 5 min at 700 W and then in Diva Decloak- Calretinin is a 29 KD calcium-binding protein and a er antigen retrieval solution that was
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