Latest Articles from Folia Medica Latest 16 Articles from Folia Medica https://foliamedica.bg/ Fri, 29 Mar 2024 12:16:53 +0200 Pensoft FeedCreator https://foliamedica.bg/i/logo.jpg Latest Articles from Folia Medica https://foliamedica.bg/ Expression of HIF-1α, Ki67, SMA and E-cadherin in endometriosis, endometrial and ovarian carcinoma https://foliamedica.bg/article/112757/ Folia Medica 66(1): 97-103

DOI: 10.3897/folmed.66.e112757

Authors: Daniel Markov, Elena Poryazova, Ralitsa Raycheva, Galabin Markov

Abstract: Introduction: Endometriosis is a benign gynecological condition that shares many characteristics with cancer cells, including immune evasion, survival, adhesion, invasion, and angiogenesis. The simultaneous investigation of tissue hypoxia, EMT, and proliferative index in endometriosis, endometrial, and ovarian carcinomas may provide new insight into the evolution and progression of gynecological neoplasms. Aim: The aim of our study was to follow the immunohistochemical expression in endometriosis, endometrial and ovarian carcinoma in relation to tissue hypoxia and necrosis, EMT, proliferative index, and fibrosis. Materials and methods: The present study used biopsy samples from 50 patients with endometriosis, endometrial carcinoma, and ovarian carcinoma in search for a correlation between HIF-1α, Ki67, SMA, and E-cadherin expression and various clinicopathological features. Results: We observed heterogeneity and different intensity of immunohistochemical expression in different groups of patients. Immunohistochemical expression was compared with the degree of tumor cell differentiation. Cells of poorly differentiated adenocarcinomas showed a higher proliferative index with Ki67, presence of epithelial-mesenchymal transition with reduced expression of E-cadherin with stronger expression of HIF-1α. Regarding SMA in pelvic and ovarian endometriosis foci, we reported strong diffuse expression in stromal cells with marked fibrosis. Conclusion: Understanding the mechanisms of carcinogenesis and progression of gynecological tumors and endometriosis is important for prognosis, response to therapy, and possibly better treatment of patients.

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Original Article Thu, 29 Feb 2024 22:00:13 +0200
Non-invasive stress estimation in simulative endoscopy setting: literature review https://foliamedica.bg/article/115645/ Folia Medica 66(1): 7-11

DOI: 10.3897/folmed.66.e115645

Authors: Nikola Boyanov, Vladimir Andonov

Abstract: One of the most common stressors is so-called “occupational stress.” It is defined as the sum of physical, mental and physiological responses to work in situations where the workload or stress associated with it intensifies for an extended period of time. It is a gradual process in which individual cognitive assessments of occupational stressors generate adverse health events and may lead to burnout. Since it has become a major problem in the medical field, studying, measuring and limiting it have been set as goals for the future. We present a literature review on the topic of measuring stress using non-invasive means, such as cardiac indices measured through different devices, electrodermal activity, skin temperature, and salivary biomarkers. A virtual reality simulation could be used in conducting such experiments in order to provide a standardized environment with set variables for researchers to discern the most precise indices to be used in a real-life setting.

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Review Thu, 29 Feb 2024 22:00:01 +0200
Uterine tumor resembling ovarian sex-cord tumor – a rare gynecological neoplasm https://foliamedica.bg/article/100064/ Folia Medica 65(6): 1020-1024

DOI: 10.3897/folmed.65.e100064

Authors: Georgi D. Prandzhev, Tihomir P. Totev, Svetlana A. Mateva, George Mathew, Grigor A. Gortchev

Abstract: Uterine tumor resembling ovarian sex-cord tumor is a rare group of uterine neoplasms with unknown histogenesis and differentiation towards ovarian sex-cord elements. They are benign in nature with low malignancy potential. Diagnosis is based on immunohistochemistry and morphological features, and the distinction from other more malignant differentials is paramount to correctly individualizing treatment. A 47-year-old patient was admitted to the hospital complaining of abdominal pain and abnormal uterine bleeding. Subsequent detection of multiple uterine fibroids by ultrasound study and CT scans lead to a robot-assisted total hysterectomy. Histological studies revealed that one of the fibroids in the myometrium had a morphology resembling an ovarian sex-cord tumor with low Ki-67 proliferative activity. After 12 months of follow-up, no additional treatment was required, and no signs of recurrence or progression were observed. Uterine tumor resembling ovarian sex-cord tumor is a rare gynecological entity with no established treatment protocol. Differentiation between benign and malignant behavior is based on structural features and immunohistochemical expression assessment. This highlights the importance of immunohistochemical staining and morphological analysis to determine the degree of surgical radicality. Minimally invasive approach is feasible and safe, but more experience is needed for further conclusions.

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Case Report Sun, 31 Dec 2023 19:00:23 +0200
Expression of Snail and Twist compared with clinical and pathological parameters in patients with gastric cancer https://foliamedica.bg/article/84132/ Folia Medica 65(3): 393-398

DOI: 10.3897/folmed.65.e84132

Authors: Elena Poryazova, Denitsa Serteva, Daniel Markov, Veselin Chonov, Galabin Markov

Abstract: Introduction: Epithelial-mesenchymal transition (EMT) is a process of change in the cellular phenotype from epithelial to mesenchymal morphology. The changes at the cellular level can explain the great heterogeneity and plasticity in the different histological subtypes of gastric carcinomas, which causes difficulties in therapy. In it, epithelial cells reduce intercellular adhesion, which is crucial in the process of invasion and metastasis of gastric carcinomas. Inhibition of cell adhesion molecules such as E-cadherin is known to be influenced by a number of transcription factors, such as Snail and Twist. Materials and methods: Our study aims to examine immunohistochemically the expression of the transcription factors Snail and Twist in 69 patients with gastric cancer and to look for a link between their expression and clinical and pathological characteristics. Results: Positive expression of Snail and Twist was observed in all cases studied by us. We observed heterogeneity and different intensity of immunohistochemical expression. There is a correlation between the immunohistochemical expression and the degree of differentiation of tumor cells and the tumor stage. The cells of poorly differentiated adenocarcinomas show diffuse and strong nuclear staining. No correlation was found between the expression of the two markers, age, and sex of the patients. Conclusions: Evaluating the expression of the two markers studied may help to assess tumor progression and prognosis. They can be used for more accurate and effective diagnosis in precancerous lesions and in early gastric cancer because they are not expressed in the normal gastric mucosa.

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Original Article Fri, 30 Jun 2023 20:00:06 +0300
Immunohistochemical phenotype of colorectal carcinoma in patients with KRAS mutation and mismatch repair status https://foliamedica.bg/article/81334/ Folia Medica 65(3): 378-383

DOI: 10.3897/folmed.65.e81334

Authors: Desislava Tashkova, Nevena Ilieva, Denitsa Serteva, Yana Feodorova, Nikolay Mehterov, Angelina Mollova, Svitlana Bachurska

Abstract: Introduction: Aberrant expression of CK7/CK20/CDX2 is reported in percentage of colorectal carcinomas (CRC). Aim: The objective of this study was to investigate specific morphological and immunohistochemical characteristics of colorectal carcinoma with KRAS mutation status and microsatellite instability. Materials and methods: Seventy-one patients with CRC and examined KRAS mutation status were included in the investigation. Immunohistochemistry was performed using antibodies to CK7, CK20, CDX2, PMS2, and MSH6. An automatic immunostainer (Ventana BenchMark GX) was used following the manufacturer’ instructions. Fisher’s exact test was used for statistical analysis (p value <0.05). Results: Immunohistochemical analysis was performed for CK7, CK20, CDX2, PMS2, and MSH6. Aberrant expression of the typical immunohistochemical profile CK7/CK20/CDX2 was observed in 50% of the cases. The highest sensitivity and specificity were established for CDX2, with 93% of the cases demonstrating positive nuclear expression in the tumor cells. As for the microsatellite status, 20% of the examined colorectal cancers showed loss in expression for one or both of the mismatch repair proteins - PMS2 and MSH6, which was associated with loss of expression for CK20 and CDX2 as well. Downhill correlation was found also between CK20 expression and the presence of mutation in the gene for KRAS. Conclusions: Our results may support the heterogeneity of colorectal carcinoma. Statistically significant correlation was found between the expression of CK20 and CDX2 and microsatellite deficient and KRAS mutant colorectal cancers. This may lead to application of immunohistochemical screening panel for selection of patients with CRC for genetic testing. Further studies on large cohorts correlating different immunohistochemical profiles to molecular subtypes of colorectal carcinoma are needed for better understanding of the pathogenesis and behavior of colorectal carcinoma.

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Original Article Fri, 30 Jun 2023 20:00:04 +0300
Paraganglioma in the spinal cord histologically mimicking ependymoma – a case report https://foliamedica.bg/article/71407/ Folia Medica 64(6): 1007-1011

DOI: 10.3897/folmed.64.e71407

Authors: Nadezhda Stefanova, Yavor Enchev, Deyan Dzhenkov, Antoniya Hachmeryan

Abstract: Paraganglioma is a tumour lesion of neuroectodermal origin that occurs at various places in the human body, but is rarely observed in the spinal cord. Usually, it presents in the lumbar region (cauda equine and filum terminal) as a slow-growing painless tumour mass that causes local compression. We present a 53-year-old man with chronic low back pain, difficulty in walking, and impotence. The magnetic resonance study showed a tumour lesion suspicious for ependymoma. Surgical excision was performed and the result from the intraoperative frozen section was also ependymoma due to the presence of pseudorosettes structures. After the surgery, a thorough histological examination of the specimen revealed an encapsulated formation composed of ovoid and spindle-shaped cells with eosinophilic to light cytoplasm, with rounded nuclei with finely dispersed chromatin. An arrangement of cells in the form of pseudorosettes – ependymoma-like features was found in a large area of the tumour. Immunohistochemically, it was proved that the tumour was paraganglioma, not ependymoma. Paraganglioma is a rare tumour in the spinal cord and it should be distinguished from other tumours normally observed in this area like ependymomas by using immunohistochemical stains.

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Case Report Sat, 31 Dec 2022 12:00:00 +0200
Endobronchial localization - arena of two tumors: a case report https://foliamedica.bg/article/71252/ Folia Medica 64(6): 1003-1006

DOI: 10.3897/folmed.64.e71252

Authors: Spasimir Shopov

Abstract: The lung is a common arena for metastases of tumors with different localization, but endobronchial localization of metastases is very rare. The most common tumors with endobronchial localization of metastasis are renal, breast, and colorectal cancer. We report a man presenting with cough and hemoptysis. Endobronchial biopsy showed renal cell carcinoma and micro-invasive bronchogenic squamous cell carcinoma. Endobronchial metastases from renal cell carcinoma are rare. The squamous cell lung cancer is one of the most common cancers in men, but the combination of renal cell carcinoma and micro-invasive squamous cell carcinoma with endobronchial localization is a casuistic case.

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Case Report Sat, 31 Dec 2022 12:00:00 +0200
Anterior pelvic exenteration and synchronous bilateral nephroureterectomy for BK polyoma virus induced urothelial carcinoma of the bladder: A case report https://foliamedica.bg/article/77713/ Folia Medica 64(3): 521-526

DOI: 10.3897/folmed.64.e77713

Authors: Oliver Oey, Pravin Viswambaram, Andrew Moe, Nicole Swarbick, Dickon Hayne

Abstract: BK polyoma virus (BKV) is a known risk factor for the development of urothelial carcinoma. There is currently limited data on the management of BKV-induced urothelial carcinoma (BUC) of the bladder, with available data limited to case reports. It remains debatable whether radical cystectomy (RC) with removal of the native urinary tract or RC alone is the most optimal management for BUC of the bladder. BKV-induced urothelial carcinoma is rare, and its management is challenging in immunocompromised patients such as that of post-transplant patients. This case report provides additional insight into a rare disease, the management of which still lacks established guidelines and remains debatable. We present a unique case of BKV-induced muscle-invasive urothelial carcinoma of the bladder in an immunosuppressed renal transplant patient who underwent open radical cystectomy, anterior pelvic exenteration, bilateral native nephroureterectomy and ileal conduit formation to transplant kidney. The patient remains recurrence-free with preserved graft function 2 years since surgery. An aggressive management approach which involves anterior pelvic exenteration with removal of the native urinary tract may be favoured in young patients with BUC of the bladder with minimal comorbidities. However, treatment should be individualised for each individual patient.

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Case Report Thu, 30 Jun 2022 20:00:20 +0300
Pitfalls in the reporting of neoplastic and pseudo neoplastic lesions in the colon and rectum https://foliamedica.bg/article/68357/ Folia Medica 64(3): 393-400

DOI: 10.3897/folmed.64.e68357

Authors: Mohammad Al Qudah, Najib Haboubi

Abstract: Introduction: Colonic biopsies comprise large portion of pathologists’ daily work. Within various pathological entities, there are histological ranges and variations. Unawareness of all of these variabilities might lead to misdiagnosis by an inexperienced pathologist and, accordingly, to mismanagement. Aim: The aim of this article was to alert the reporting pathologist to some of the most common and/or important pitfalls in considering a diagnosis of neoplastic conditions of the colon. Materials and methods: We highlighted main neoplastic pitfalls in colonic biopsies histopathological investigations. Results: The pitfalls described in this article are the most common problems we encountered according to our experience. Thus, double reporting for difficult cases is highly recommended to avoid problems in reporting such cases. Conclusions: Pathologist should be fully alert when reporting some of the most common pitfalls.

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Original Article Thu, 30 Jun 2022 20:00:04 +0300
Immunohistochemical expression of CK20, CK7, and CDX2 in colorectal carcinoma in correlation with pathomorphological characteristics https://foliamedica.bg/article/60950/ Folia Medica 64(2): 214-220

DOI: 10.3897/folmed.64.e60950

Authors: Nevena Ilieva, Desislava Tashkova, Dmitrii Staykov, Denitsa Serteva, Yana Feodorova, Nikolay Mehterov, Angelina Mollova, Svitlana Bachurska

Abstract: Introduction: Colorectal carcinoma is the third most common cancer worldwide. The usual immunophenotype of colorectal adenocarcinoma is CDX2 positive, CK20 positive, and CK7 negative. Aberrant expression is reported in a variety of colorectal carcinomas but its relation to morphological variables and survival data is still unclear. Aim: The aim of this study was to investigate the correlation between the aberrant immunostaining of colorectal carcinoma and different clinicopathological characteristics. Materials and methods: Immunohistochemical expression of CK20, CK7, and CDX2 was evaluated in 71 cases of colorectal carcinoma. Statistical analysis was performed to identify correlations between the morphological characteristics and the immunoprofile of colorectal carcinoma. Results: Positive cytoplasmic and/or membranous signal for CK20 was observed in 66.2% of colorectal carcinomas. CK7 positive immunostaining was seen in 7% of the cases. In terms of combined expression of CK20 and CK7, the proportion of immunoprofile CK20+/CK7− was the highest, accounting for 46 out of 71 colorectal carcinomas, followed by CK20−/CK7−, then CK20−/CK7+ and CK20+/CK7+. Concerning CDX2, the majority of colorectal carcinomas (87.3%) showed positive staining. Statistically significant correlation was established between CDX2 expression and histologic grade and depth of tumour invasion. Loss of CK20 positivity was associated with higher histologic grade. No association between CK7 expression and histopathologic features was established. Conclusions: The results support the heterogeneity of colorectal cancer. Over 35% of the cases in this study showed deviations from the expected immunoprofile. This should be taken into consideration when diagnosing colorectal carcinoma in metastatic regions.

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Original Article Sat, 30 Apr 2022 13:04:00 +0300
Quality of life of patients with cardiac pacemaker: levels, associated characteristics, and the impact of anxiety and depression https://foliamedica.bg/article/63234/ Folia Medica 64(1): 117-127

DOI: 10.3897/folmed.64.e63234

Authors: Maria Polikandrioti

Abstract: Introduction: Implantation of a permanent cardiac pacemaker (PPM) improves recipients’ quality of life (QoL). However, psychiatric disturbance may adversely affect QoL and undermine clinical outcomes. Aim: To explore impact of anxiety and depression on QoL of PPM recipients. Materials and methods: A hundred and fifty PPM recipients were enrolled. Data collection was performed by completing the Hospital Anxiety and Depression Scale (HADS) and the SF-36 Health Survey (SF-36). Demographic characteristics were also included. The statistical significance level was p<0.05. Results: Almost a quarter of the patients experienced anxiety (25.3%) and depression (26.0%). In terms of QoL, patients showed moderate to high levels in social functionality, energy/fatigue, emotional well-being and pain (median: 50, 60, 72, and 67.5, respectively) and poor levels in physical functioning, physical role and emotional role (medians: 22, 0, and 0 respectively). In addition, patients had moderate levels of general health (median 48.5). All QoL subscales were negatively associated with anxiety and depression of patients on a univariate level (p<0.05). Regarding demographic variables affecting QoL, age was statistically significantly associated with physical role (p=0.025), emotional role (p=0.005), social functioning (p=0.033), and pain (p=0.018). Furthermore, physical role was statistically significantly associated with number of children (p=0.024), emotional role with education level (p=0.011), social functioning with family status (p=0.018), and general health with residency (p=0.006). Conclusions: Demographic characteristics and anxiety/depression are related with QoL. A better understanding of these associations may help clinicians in planning rational and cost-effective interventions.

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Original Article Mon, 28 Feb 2022 10:19:00 +0200
Non-COVID-19 viral respiratory tract infection as causes of death amid the pandemic: a report of two autopsy cases and tips for safe practice https://foliamedica.bg/article/56037/ Folia Medica 63(4): 608-612

DOI: 10.3897/folmed.63.e56037

Authors: George Stoyanov, Deyan Dzhenkov, Lilyana Petkova

Abstract: Autopsy practice is one of the most well-defined procedures in medicine, with strict safety instructions in place to protect medical personnel from infectious agents. However, for various reasons, these precautionary measures are often overlooked. Herein we report two autopsy cases of patients who died during the COVID-19 pandemic and the national state of emergency declared in Bulgaria. One patient was a 77-year-old female who had a medical history of a viral respiratory tract infection in February 2020 but had not undergone any test. She had multiple comorbidities including hypertension, cerebral and cardiovascular disease, and type 2 diabetes. The other patient was a 53-year-old female with morbid obesity with previous medical history of malignancy, hypertension, and type 2 diabetes. Both patients were tested for COVID-19 during the autopsy. Gross and histological findings in both patients showed respiratory tract viral infection with severe complications, incompatible with life. The first patient had serous desquamative tracheitis, hemorrhagic pneumonia, pericarditis, meningitis, and acute necrotizing encephalitis. The second patient had serous tracheitis, interstitial pneumonia, and diffuse alveolar damage and pneumocyte cytopathic effect, the alveolar septi had undergone a fibrotic change, with serous meningitis and non-necrotizing encephalitis also noted histologically. Autopsy-wise, it is always important, against the backdrop of an epidemic, to use full precautionary measures and exclude epidemic strands in cases where gross findings are suggestive of a viral infection.

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Case Report Tue, 31 Aug 2021 18:00:00 +0300
Radiation-induced low grade fibromyxoid sarcoma of the larynx: a case report and literature review https://foliamedica.bg/article/56150/ Folia Medica 63(3): 433-437

DOI: 10.3897/folmed.53.e56150

Authors: Dariya L. Chivchibashi, Pavel Pavlov, Maria Tzaneva, Nikolay Sapundzhiev, Georgi Davidov

Abstract: Low grade fibromyxoid sarcoma (LGFMS) is an uncommon variant of fibrosarcoma with high risk of local recurrence, immense metastatic potential and frequently protracted period between tumour presentation and metastasis. This unusual malignancy rarely affects the region of the head and neck which makes cases of laryngeal LGFMS extremely infrequent. To date, LGFMS of the larynx has been scatteredly mentioned in the literature. Neither incidence nor causes and risk factors for laryngeal LGFMS have been clarified so far. To the authors’ knowledge, this is the first case report that discusses the clinical course, imaging diagnosis, histopathological evaluation and surgical approach to radiation-induced laryngeal LGFMS.We present a case of a 70-year-old man who developed a LGFMS after previous radiotherapy (RT) for squamous cell carcinoma (SCC) of the larynx. The latency period between the time of radiation exposure and the diagnosis of LGFMS was twenty-seven months. After re-confirming the diagnosis with second biopsy and extensive imaging evaluation the patient was subjected to an open partial resection of the larynx. Owing to the rarity of the tumour, there is no established protocol with follow-up recommendations.This case highlights the importance of considering the RT history of the patient in order to monitor radiotherapy-related complications, including the occurrence of LGFMS.

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Case Report Wed, 30 Jun 2021 21:00:00 +0300
Perforation of the Small Intestine with Acute Peritonitis Caused by Enterobius Vermicularis https://foliamedica.bg/article/50486/ Folia Medica 62(4): 875-879

DOI: 10.3897/folmed.62.e50486

Authors: Spasimir T. Shopov

Abstract: Perianal and perineal pruritus is often associated with Enterobius vermicularis in children. Although this roundworm is common in pediatric practice, most doctors are unaware that it can cause appendicular colic with/or appendicitis, severe urogenital complications, bowel perforation, and peritonitis. We report a case of a young male who presented with signs and symptoms of acute peritonitis. Dur-ing the operation, perforation of the jejunum with a purulent exudate under the transverse colon, a left lateral canal, a Douglas cavity were found as well as single enlarged mesenteric lymph nodes. Histological studies detected Enterobius vermicularis in the lumen of the appendix and jejunum, as well as in the purulent exudate in the intestinal wall and serosa. A mesenteric lymph node, histologically presented with chronic nonspecific lymphadenitis. In conclusion, infection with Enterobius vermicularis should be considered in peri-tonitis, appendicitis, and enlarged mesenteric lymph nodes, especially in young patients.

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Case Report Thu, 31 Dec 2020 20:00:00 +0200
A Collision between Cavernous-Capillary Hemangioma with Stromal Luteinization and Serous Cystadenoma https://foliamedica.bg/article/51551/ Folia Medica 62(4): 851-855

DOI: 10.3897/folmed.62.e51551

Authors: Spasimir T. Shopov

Abstract: A collision tumor represents a coexistence of two adjacent but histologically distinct tumors without histologic admixture in an organ. Serous tumors of the ovary are the most common forms of epithelial tumors, and cavernous hemangiomas are rare in the ovary. Howev-er, a collision between them is an extremely rare pathology. Here the author presents a report of a 74-year-old woman whose ultrasound examines establishes rounded left ovary formation with hypo- and hyperdense sections. Paraclinical: CA125 within normal range. Serum levels free testosterone 3.79 nmol/l (normal 0.49-2.64 nmol/l for women). The histology showed benign serous cystadenoma and vascular lesions composed of capillary and cavernous vessels amongst luteinized stromal cells. The luteinized cells were positive for inhibin A. The endothelial cells were negative for estrogen and progesterone receptor. A search was conducted in the Medline database via PubMed using the terms: ‘hemangioma’, ‘ovary’, ‘collision’, ‘serous cystadenoma’, no more than 70 articles for ovarian hemangiomas appeared, and no articles for a collision between serous cystadenoma and mixed hemangioma with stromal luteinization in the ovary. From the reference, this is the first reported case of collision between serous cystadenoma and mixed cavernous-capillary hemangioma with stromal luteinization in the ovary. This rare case of collision between tumors in the ovary sheds light on possible tumor pathology in the woman’s reproductive system, which must be considered by gynaecologists and pathologists.

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Case Report Thu, 31 Dec 2020 20:00:00 +0200
Review of Potential Significance of Mutations of ADAMTS20, NF1 and PKHD1 Detected Using Next Generation Sequencing (NGS) in Dermal Fibrosarcoma Arising in Dermatofibrosarcoma Protuberans https://foliamedica.bg/article/48003/ Folia Medica 62(1): 17-22

DOI: 10.3897/folmed.62.e48003

Authors: Artur Kowalik, Andrzej Wincewicz, Sebastian Zięba, Janusz Kopczynski, Mariusz Koda, Stanisław Sulkowski, Luiza Kańczuga-Koda, Stanisław Góźdź

Abstract: We examined a status of fibrosarcoma arising in dermatofibrosarcoma protuberans of 64-year-old male patient. A dermal, solid, grayish-yellow, desmin-negative trichrome-bluish tumor measured 1.5 cm in diameter pT1a (edition 8 pTNM). It was composed of spindle cells. It was consistent with dermatofibrosarcoma protuberans (ICD-O3: 8832/3) in areas of low mitotic activity, low atypia and sustained CD34 positivity. CD34-negative texture with high mitotic index and atypia was consistent with the high grade sarcoma apparently of fibrous origin, given category of poorly differentiated fibrosarcoma. The high grade component was graded (G3) and scored according to French Federation of Cancer Centers Sarcoma Group (FNCLCC): total score of 6 points: tumor differentiation: 3 points + Mitotic count: 3 points (up to 26 mitoses/ 10HPF in high-grade fields), + no necrosis: 0 points. In low grade sarcomatous component ADAMTS20 (NM_025003: c.1661C>T, p.P554L) NF1 (NM_001042492: c. 2173G>T, p.E725X) and PKHD1 (NM_138694: c. 11074C>T, p.R3692X) were revealed with following allelic frequencies: 25%, 27% and 17%. In high grade component allelic frequencies of the same mentioned mutations were 30%, 30% and 14% respectively. In the light of our findings, none of detected mutations can be regarded as a mutation that would definitely induce phenotype of high malignancy, because ADAMTS20, NF1 and PKHD1 mutations were detected both in high grade sarcoma and in low grade areas of dermatofibrosarcoma protuberans. It also points that these mutations appeared on early stages of tumor development.

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Review Tue, 31 Mar 2020 17:00:02 +0300