Displaying publications 21 - 40 of 672 in total

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  1. Aliaga Ramos J, Pedrosa MS, Yoshida N, Abdul Rani R, Arantes VN
    J Clin Gastroenterol, 2023 Jan 01;57(1):74-81.
    PMID: 33883515 DOI: 10.1097/MCG.0000000000001541
    BACKGROUND: The standard of practice when a superficial lesion was identified during upper GI endoscopy is to take an endoscopic forceps biopsy (EFB) of the lesion. The histopathologic findings then will determine the management plan. Endoscopic submucosal dissection (ESD) enables en-bloc resection for early neoplasms of the gastrointestinal tract and provides an adequate specimen that permits a more reliable histopathologic assessment. The objective of this study was to determine the rate of histopathologic discrepancy between EFB and specimens resected by ESD, and to identify the predisposing risk factors for this discordance.

    MATERIALS AND METHODS: This is a retrospective study, enrolling patients with superficial gastric neoplasms that underwent EFB followed by ESD. We divided cases to concordant or discordant group according to the histopathologic diagnosis of EFB and ESD specimens. We also analyzed the features that may have influenced the occurrence of histopathologic discordance and the association between discordant samples of adenocarcinoma and neoplastic invasion to deeper layers.

    RESULTS: A total of 115 gastric ESD procedures were performed with 84 patients meeting the inclusion criteria. Histopathologic discordance between EFB and ESD specimens were observed in 35.8% of cases (30/84 lesions). The univariant-bivariant analysis and multivariate logistic regression analysis showed that histologic discordance was closely related to the size of the lesions ( P =0.028).

    CONCLUSION: Histopathologic discrepancy between EFB and ESD specimens may occur in approximately one-third of cases, particularly for lesions over 20 mm, which may lead to crucial delays in gastric cancer precise diagnosis and treatment.

    Matched MeSH terms: Biopsy/methods
  2. Chong SE, Chang F, Chuah KH, Sthaneshwar P, Nik Mustapha NR, Mahadeva S, et al.
    Ann Hepatol, 2023;28(2):100888.
    PMID: 36586588 DOI: 10.1016/j.aohep.2022.100888
    INTRODUCTION AND OBJECTIVES: The Hepamet fibrosis score was introduced for the diagnosis of advanced liver fibrosis in patients with non-alcoholic fatty liver disease (NAFLD). To date, external validation is limited, and its utility in combination with liver stiffness measurement (LSM) has not been explored.

    MATERIAL AND METHODS: This is a cross-sectional study on NAFLD patients who had a liver biopsy and LSM on the same day. The diagnostic performance of the Hepamet fibrosis score was evaluated using the area under the receiver operating characteristic curve (AUROC).

    RESULTS: The data for 196 patients were analyzed (mean age 50 ± 11 years old, 50% men, 56.6% Malay, 27.6% Chinese, 15.8% Indian, 67.9% NASH, 15.8% advanced liver fibrosis). The AUROC of Hepamet fibrosis score for the diagnosis of advanced liver fibrosis was 0.85 (95% CI, 0.80 - 0.91). Using the <0.12 and ≥0.47 cut-offs from the original study, the sensitivity, specificity, positive predictive value, negative predictive value, the proportion of indeterminate results and misclassification rate were 81.8%, 91.8%, 47.4%, 98.2%, 32.1% and 6.1%, respectively. Using LSM <10 kPa and ≥15 kPa for the diagnosis of absence and presence of advanced liver fibrosis, respectively, in patients with Hepamet fibrosis score ≥0.47 (i.e., the two-step approach) reduced indeterminate results and misclassification to 16.1% and 3.6%, respectively.

    CONCLUSIONS: We found the Hepamet fibrosis score to have good diagnostic accuracy in a population that was largely unrepresented in earlier work and demonstrated its utility in a two-step approach with LSM for the diagnosis of advanced liver fibrosis.

    Matched MeSH terms: Biopsy/methods
  3. Hilmi IN, Nik Muhamad Affendi NA, Shahrani S, Thalha AM, Leow AH, Khoo XH
    Dig Dis, 2023;41(4):581-588.
    PMID: 36702102 DOI: 10.1159/000529238
    BACKGROUND: The differentiation between intestinal tuberculosis (ITB) and Crohn's disease (CD) remains a challenge, particularly in areas where tuberculosis is highly prevalent. Previous studies have identified features that favour one diagnosis over the other. The aim of the study was to determine the accuracy of a standardized protocol in the initial diagnosis of CD versus ITB.

    METHODS: All patients with suspected ITB or CD were prospectively recruited. A standardized protocol was applied, and the diagnosis was made accordingly. The protocol consists of history and examination, ileocolonoscopy with biopsies, and tuberculosis workup. The diagnosis of probable ITB was made based on at least one positive finding. All other patients were diagnosed as probable CD. Patients were treated either with anti-tubercular therapy or steroids. Reassessment was then carried out clinically, biochemically, and endoscopically. In patients with suboptimal response, the treatment was either switched or escalated depending on the reassessment.

    RESULTS: 164 patients were recruited with final diagnosis of 30 (18.3%) ITB and 134 (81.7%) CD. 1 (3.3%) out of 30 patients with ITB was initially treated as CD. 16 (11.9%) out of 134 patients with CD were initially treated as ITB. The initial overall accuracy for the protocol was 147/164 (89.6%). All patients received the correct diagnosis by 12 weeks after reassessment.

    CONCLUSION: In our population, most patients had CD rather than ITB. The standardized protocol had a high accuracy in differentiating CD from ITB.

    Matched MeSH terms: Biopsy
  4. Xin TY, Saniasiaya J, Kulasegarah J, Fan CS
    Acta Medica (Hradec Kralove), 2023;66(4):158-160.
    PMID: 38588394 DOI: 10.14712/18059694.2024.11
    Pilomatricoma, also known as Pilamatrixoma or Malherbe's calcifying epithelioma, is a benign skin tumour with a bimodal age distribution between the paediatric and elderly age groups. Although it was previously thought to be rare, recent studies have revealed that it is quite common. Typically, pilomatricoma is diagnosed following histopathological examination of the lesion as it is frequently misdiagnosed with other types of skin pathology. In our case, the child presented with painless swelling of the left infraauricular region. The initial cytology and imaging were unable to provide a definite diagnosis. An excision biopsy was done, and a histopathological examination was suggestive of Pilomatricoma. Therefore, Pilomatricoma ought to be considered in the differential diagnosis of head and neck lesions in hopes of providing a better understanding on this pathological lesion.
    Matched MeSH terms: Biopsy
  5. Sari ARP, Radiono S, Soebono H, Ferronika P
    Malays J Pathol, 2022 Dec;44(3):491-498.
    PMID: 36591716
    INTRODUCTION: Less biopsies were expected when large scale social restrictions were enforced during COVID-19 pandemic.

    AIM: To compare the skin diseases prompting biopsy before and during the COVID-19 pandemic.

    MATERIALS AND METHODS: A retrospective study of skin diseases was performed; the skin problems were then grouped into major histopathological reactions.

    RESULTS: A total of 229 biopsies were performed before the COVID-19 outbreak, whereas only 160 biopsies were done during the pandemic. Before versus during the outbreak, the proportion of major reactions were granulomatous 20.52% vs 21.88%, neoplasms 17.47% vs 20%, psoriasiform 14.85% vs 10%, vesiculobullous 9.61% vs 8.75%, others 10.92% vs 7.50%, interface dermatitis 6.99% vs 10%, vasculopathy 6.99% vs 5.63%, spongiotic 6.55% vs 8.13%, panniculitis 3.49% vs 3.75%, and superficial and deep dermal infiltrate 2.62% vs 4.38%.

    CONCLUSION: A decreased total number of patients prompting less biopsies were reported during the COVID-19 outbreak. However, the three largest percentages of major histopathological reactions were still similar, namely granulomatous, neoplasms, and psoriasiform.

    Matched MeSH terms: Biopsy
  6. Tham JH, Looi LM, Ghazali R
    Malays J Pathol, 2022 Dec;44(3):469-475.
    PMID: 36591714
    INTRODUCTION: Patients who are suspected of having prostate cancer from screening tests require a tissue biopsy to confirm the presence of cancer. This study aims to compare the cost and cancer detection rate of two different biopsy protocols: 6-core transrectal (TR) approach, and transperineal (TP) saturation biopsy.

    METHODS: In this descriptive, retrospective study, we selected all prostate biopsies received by the diagnostic pathology department of a tertiary hospital in Malaysia in the year 2020, from adult patients for analysis. Data on demographics, specimen preparation processes, and final histopathological diagnosis was extracted from the Laboratory Information System (LIS). The cost incurred for each biopsy diagnosed as cancer was calculated with the cost prices referenced from laboratory documentation. Statistical analysis was performed using SPSS, version 28.

    RESULTS: The total cost for detection of cancer using TR biopsy ranged from RM11.22 - RM271.02 with mean of RM47.53. The standard deviation, s is RM43.45. For TP biopsies, the total cost ranged from RM112.20 - RM349.56 with mean of RM160.85, standard deviation of RM80.37. TR biopsies had a detection rate of 43.2%, while TP biopsies had a 24.2% cancer detection rate. There is a 3.38-fold increase in costs between TR and TP biopsy.

    CONCLUSION: The results show a 3.38-fold increase in costs and a reduction in cancer detection rate when comparing TR and TP biopsy. The reason for the reduced detection rate is unascertained in this study.

    Matched MeSH terms: Biopsy/methods
  7. Abbasian Ardakani A, Bureau NJ, Ciaccio EJ, Acharya UR
    Comput Methods Programs Biomed, 2022 Mar;215:106609.
    PMID: 34990929 DOI: 10.1016/j.cmpb.2021.106609
    Radiomics is a newcomer field that has opened new windows for precision medicine. It is related to extraction of a large number of quantitative features from medical images, which may be difficult to detect visually. Underlying tumor biology can change physical properties of tissues, which affect patterns of image pixels and radiomics features. The main advantage of radiomics is that it can characterize the whole tumor non-invasively, even after a single sampling from an image. Therefore, it can be linked to a "digital biopsy". Physicians need to know about radiomics features to determine how their values correlate with the appearance of lesions and diseases. Indeed, physicians need practical references to conceive of basics and concepts of each radiomics feature without knowing their sophisticated mathematical formulas. In this review, commonly used radiomics features are illustrated with practical examples to help physicians in their routine diagnostic procedures.
    Matched MeSH terms: Biopsy
  8. Rajaram RB, Jayaraman T, Yoong BK, Koh PS, Loh PS, Koong JK, et al.
    Asian J Surg, 2022 Jan;45(1):441-447.
    PMID: 34384674 DOI: 10.1016/j.asjsur.2021.07.046
    OBJECTIVES: Obesity and non-alcoholic fatty liver disease (NAFLD) are rampant in South East Asia. There is paucity of data exploring its' impact on donor suitability for living donor liver transplantation (LDLT). We aimed to describe and examine the factors related to non-utilization of potential donors in our LDLT programme.

    METHODS: This is an analysis of prospectively collected data on potential donors for an adult LDLT programme, between January 2017 and December 2019.

    RESULTS: Fifty-five donors for 33 potential recipients were evaluated. The mean age was 31.6 ± 8.5 years, 52.7% were female and the ethnic divisions were: Chinese (50.9%), Indian (25.5%) and Malay (23.6%). The mean body mass index (BMI) among potential donors was 25.1 ± 4.0 kg/m2; 25.5% of donors had normal BMI, 23.6% were overweight and 50.9% were obese. Using the CAP modality of Fibroscan®, we identified the following grades of hepatic steatosis: 36.6% S0, 19.5% S1, 2.4% S2 and 41.5% S3. The non-utilization rate of our donors was 74.5% (41/55) and the main reasons were significant hepatic steatosis and/or obesity. Compared to suitable donors, unsuitable donors had significantly greater mean BMI, mean CAP scores, higher rates of dyslipidaemia and NAFLD.

    CONCLUSION: NAFLD and obesity represent major challenges to an emerging LDLT programme in Malaysia.

    Matched MeSH terms: Biopsy
  9. Angsuwatcharakon P, Kulpatcharapong S, Moon JH, Ramchandani M, Lau J, Isayama H, et al.
    HPB (Oxford), 2022 Jan;24(1):17-29.
    PMID: 34172378 DOI: 10.1016/j.hpb.2021.05.005
    BACKGROUND: Indeterminate strictures pose a therapeutic dilemma. In recent years, cholangioscopy has evolved and the availability of cholangioscopy has increased. However, the position of cholangioscopy in the diagnostic algorithm to diagnose malignancy have not been well established. We aim to develop a consensus statement regarding the clinical role of cholangioscopy in the diagnosis of indeterminate biliary strictures.

    METHODS: The international experts reviewed the evidence and modified the statements using a three-step modified Delphi method. Each statement achieves consensus when it has at least 80% agreement.

    RESULTS: Nine final statements were formulated. An indeterminate biliary stricture is defined as that of uncertain etiology under imaging or tissue diagnosis. When available, cholangioscopic assessment and guided biopsy during the first round of ERCP may reduce the need to perform multiple procedures. Cholangioscopy are helpful in diagnosing malignant biliary strictures by both direct visualization and targeted biopsy. The absence of disease progression for at least 6 months is supportive of non-malignant etiology. Direct per-oral cholangioscopy provides the largest accessory channel, better image definition, with image enhancement but is technically demanding. Image enhancement during cholangioscopy may increase the diagnostic sensitivity of visual impression of malignant biliary strictures. Cholangioscopic imaging characteristics including tumor vessels, papillary projection, nodular or polypoid mass, and infiltrative lesions are highly suggestive for neoplastic/malignant biliary disease. The risk of cholangioscopy related cholangitis is higher than in standard ERCP, necessitating prophylactic antibiotics and ensuring adequate biliary drainage. Per-oral cholangioscopy may not be the modality of choice in the evaluation of distal biliary strictures due to inherent technical difficulties.

    CONCLUSION: Evidence supports that cholangioscopy has an adjunct role to abdominal imaging and ERCP tissue acquisition in order to evaluate and diagnose indeterminate biliary strictures.

    Matched MeSH terms: Biopsy/adverse effects; Biopsy/methods
  10. Teh MS, Teoh LY, See MH
    J Cancer Res Ther, 2022;18(6):1804-1807.
    PMID: 36412448 DOI: 10.4103/jcrt.JCRT_631_20
    Breast cyst, especially galactocele is usually benign. Needle aspiration or surgical removal are both diagnostic and therapeutic. Mastectomy is not necessary even if the whole breast is affected, but surgeons need to be vigilant. We describe a rare case of persistent and large breast cyst.
    Matched MeSH terms: Biopsy, Needle
  11. Mohan A, Podin Y, Liew DW, Mahendra Kumar J, Lau PS, Tan YY, et al.
    BMC Infect Dis, 2021 Oct 15;21(1):1069.
    PMID: 34654392 DOI: 10.1186/s12879-021-06754-9
    BACKGROUND: Melioidosis, the infection caused by Burkholderia pseudomallei, is associated with a high case fatality rate, due in part to difficulties in clinical recognition and diagnostic confirmation of the disease. Although head and neck involvement is common in children, specific disease manifestations differ between geographic regions. The aim of this study was to provide a detailed description of melioidosis of the head and neck among children in Sarawak, Malaysia, and determine if fine-needle aspiration of suspected head or neck lesions could improve melioidosis diagnosis.

    METHODS: We conducted a retrospective descriptive study of all children aged

    Matched MeSH terms: Biopsy, Fine-Needle
  12. Obade AY, Pandarathodiyil AK, Oo AL, Warnakulasuriya S, Ramanathan A
    Clin Oral Investig, 2021 Sep;25(9):5411-5419.
    PMID: 33629155 DOI: 10.1007/s00784-021-03849-0
    OBJECTIVE: This study aims to examine the ability of optical coherence tomography (OCT) to differentiate ex vivo epithelial structure of benign disorders, dysplastic, and oral squamous cell carcinoma (OSCC) in comparison with the structure of normal marginal mucosa of oral biopsies. As a secondary objective, we examined the inter- and intra-observer variations of OCT measurements of two calibrated assessors.

    MATERIALS AND METHODS: Oral biopsies (n = 44) were scanned using the swept source OCT (SSOCT) and grouped by pathology diagnosis to benign, dysplasia or carcinoma. Two trained and calibrated assessors scored on the five OCT variables: thickness of keratin layer (KL), epithelial layer (EL), homogeneity of lamina propria (LP), basement membrane integrity (BMI), and the degree of reflection of the epithelial layer (Ep Re). Chi-square tests and Fischer's exact method were used to compare the data.

    RESULTS: The OCT images showed breached BM status in all the OSCC samples (100%). Epithelial reflection was noted to be hyper-reflective in all the OSCC and oral dysplasia samples (100%). An increase in KL in 66.67% of the OSCC and 100% of the oral dysplasia samples was found. EL was increased in all the OSCC samples (100%) and 85.72% of the oral dysplasias. Kappa values showed that there was very good agreement (over 0.7) when scoring individual parameters between the two assessors.

    CONCLUSION: The study showed that the BM status was a key parameter in the detection of SCC and for differentiating SCC from oral dysplasia or benign disorders.

    CLINICAL RELEVANCE: OCT is a non-invasive and non-radioactive adjunct diagnostic tool that can provide immediate results on the structure of oral mucosa. The BM status measured ex vivo was a key parameter in the detection of SCC and for differentiating SCC from oral dysplasia or benign disorders.

    Matched MeSH terms: Biopsy
  13. Sathasivam HP, Kist R, Sloan P, Thomson P, Nugent M, Alexander J, et al.
    Br J Cancer, 2021 Aug;125(3):413-421.
    PMID: 33972745 DOI: 10.1038/s41416-021-01411-z
    BACKGROUND: This study was undertaken to develop and validate a gene expression signature that characterises oral potentially malignant disorders (OPMD) with a high risk of undergoing malignant transformation.

    METHODS: Patients with oral epithelial dysplasia at one hospital were selected as the 'training set' (n = 56) whilst those at another hospital were selected for the 'test set' (n = 66). RNA was extracted from formalin-fixed paraffin-embedded (FFPE) diagnostic biopsies and analysed using the NanoString nCounter platform. A targeted panel of 42 genes selected on their association with oral carcinogenesis was used to develop a prognostic gene signature. Following data normalisation, uni- and multivariable analysis, as well as prognostic modelling, were employed to develop and validate the gene signature.

    RESULTS: A prognostic classifier composed of 11 genes was developed using the training set. The multivariable prognostic model was used to predict patient risk scores in the test set. The prognostic gene signature was an independent predictor of malignant transformation when assessed in the test set, with the high-risk group showing worse prognosis [Hazard ratio = 12.65, p = 0.0003].

    CONCLUSIONS: This study demonstrates proof of principle that RNA extracted from FFPE diagnostic biopsies of OPMD, when analysed on the NanoString nCounter platform, can be used to generate a molecular classifier that stratifies the risk of malignant transformation with promising clinical utility.

    Matched MeSH terms: Biopsy
  14. Binti Shuhairi NN, Bt Abdul Jalil A, Lau SH, Bt Mohd Ghazali S, Kee CC
    Int J Paediatr Dent, 2021 Jul;31(4):496-503.
    PMID: 32815206 DOI: 10.1111/ipd.12719
    BACKGROUND: Globally, research on oral and maxillofacial lesions among newborns and infants remains limited.

    AIM: To describe demographic patterns, histopathological findings, and locations of oral and maxillofacial lesions in newborns (birth-1 month) and infants (>1 month-2 years) reported over 51 years.

    DESIGN: A retrospective cross-sectional study on histopathological records of newborns and infants was conducted. Patients' demographic characteristics (age, gender, and race), histopathological diagnosis, and lesion's location were gathered. Pearson's chi-square or Fisher's exact test was performed to determine associations between demographic characteristics and different categories of lesions.

    RESULTS: Out of 66,546 specimens received, 0.44% (290 specimens) were from patients aged 2 years and younger (27 newborns and 263 infants). The most common category was inflammatory/reactive (44.2%), followed by tumour/tumour-like (42.0%), cystic/pseudocystic (6.6%), and miscellaneous lesions (5.5%). Mucous extravasation cysts (23.4%) and Langerhans cell histiocytosis (7.2%) were the most common histopathological diagnoses. Tumour/tumour-like lesions were significant in newborns (P = .021), and majority were congenital epulis (40.7%). Inflammatory/reactive lesions were significantly higher in male (P = .025) and infants (P = 

    Matched MeSH terms: Biopsy
  15. Abd Rahim SNH, Ahmad NA, Mohamed-Yassin MS
    Am J Case Rep, 2021 Jun 25;22:e932320.
    PMID: 34170887 DOI: 10.12659/AJCR.932320
    BACKGROUND Trichoblastoma is a rare, benign, cutaneous adnexal neoplasm arising from rudimentary hair follicles. The incidence and prevalence in the general population is unknown. However, most cases occur in adults aged 40 years and older. CASE REPORT A 62-year-old woman presented to our primary care clinic for a hypertension and diabetes followup visit. The doctor, who had never seen the patient before, noticed several small lumps over the patient's eyebrows. After she removed her headscarf and face mask for a thorough examination, numerous skin-colored papules and nodules were seen on her nose, nasal bridge, forehead, and around her eyebrows. She was referred to a dermatologist, and a skin biopsy showed well-circumscribed dermal nests of basaloid cells, with peripheral palisading, and keratin horn cysts surrounded by dense fibrous stroma. These features were consistent with trichoblastoma. She was then referred to a plastic surgeon to discuss further management options. The patient finally chose laser ablation as she was fearful of the other more invasive surgical options. CONCLUSIONS This is a very rare case of extensive facial trichoblastoma. It highlights the need for clinicians to ensure optimal exposure when examining patients. It also highlights the role of biopsies for skin lesions of uncertain etiology. In this case, it helped to rule out basal cell carcinoma, which can be a more locally destructive condition than trichoblastoma. This case also serves as a reminder about the need for ongoing review and referral for further management for conditions for which previous treatment was unsuccessful.
    Matched MeSH terms: Biopsy
  16. Mohd Ramli SS, Husain S, Wong YP
    BMJ Case Rep, 2021 Jun 22;14(6).
    PMID: 34158320 DOI: 10.1136/bcr-2020-236436
    A 39-year-old man presented with bilateral nasal obstruction for 4 months and associated with hyposmia and foul-smelling nasal discharge. Nasal endoscopy showed irregular mucosa of the nasal cavity with easily bleeding. Nasal biopsy reported as extranodal Natural Killer/T cell lymphoma, nasal type. In-situ hybridisation for Epstein-Barr encoding region was positive. He was treated with six cycles of gemcitabine, oxaliplatin and L-asparaginase and peripheral blood stem cell transplant. After the treatment, he was asymptomatic until 9 months where he had splenic abscess and undergone splenectomy. He was asymptomatic of the disease for 2 years.
    Matched MeSH terms: Biopsy
  17. Wong YP, Vincent James EP, Mohammad Azhar MAA, Krishnamoorthy Y, Zainudin NA, Zamara F, et al.
    Diagn Cytopathol, 2021 Jun;49(6):718-726.
    PMID: 33629823 DOI: 10.1002/dc.24731
    BACKGROUND: The International Academy of Cytology (IAC) Yokohama reporting system was recently proposed to serve as a standardized diagnostic platform for the cytological interpretation of breast fine needle aspiration biopsy (FNAB). Five cytological categories were suggested, linked to a certain risk of malignancy (ROM). The aim of this study was to assess the potency of this newly proposed reporting guideline, with a review of literatures.

    METHODS: This is a retrospective study over 8-year duration in which all the breast FNABs performed in our institution were recategorized in accordance to the IAC Yokohama reporting system. Kappa coefficient was used to evaluate the agreement between the proposed cytological category and corresponding histological diagnosis, with the level of significance set at 5%. Cyto-histopathological correlation and its diagnostic performance were also assessed.

    RESULTS: A total of 1136 breast FNABs were analyzed, including 31 repeat FNABs. Of these, 521 (47.1%) cases had matched histopathological results. Respective ROM for each category was: "insufficient" 13.6%, "benign" 0.4%, "atypical" 25.0%, "suspicious" 85.7%, and "malignant" 100%. There was substantial agreement (κ=0.757) between cytology and histopathological results. Our data revealed a high-diagnostic specificity, sensitivity, positive and negative predictive value of 99.3% (95% CI: 97.6%-99.9%), 94.2% (95% CI: 87.9%-97.9%), 98.0% (95% CI: 92.5%-99.5%), 98.0% (95% CI: 96.1%-99.1%) respectively when both the "suspicious" and "malignant" cases were considered as positive tests, with area under the curve of 0.993.

    CONCLUSIONS: The IAC Yokohama system is a reliable, evidence-based, and standardized reporting system that helps to facilitate communication among cytopathologists, radiologists, and surgeons toward individualized patient management.

    Matched MeSH terms: Biopsy, Fine-Needle
  18. Yuniati R, Sihombing NRB, Nauphar D, Tiawarman B, Kartikasari DS, Dewi M, et al.
    Intractable Rare Dis Res, 2021 May;10(2):114-121.
    PMID: 33996357 DOI: 10.5582/irdr.2020.03143
    Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to ultraviolet radiation and other carcinogenic agents. This ailment is characterized by increased photosensitivity, skin xerosis, early skin aging, actinic keratosis, erythematous lesions, and hyperpigmentation macules. In this serial case report, we presented four cases with XP from two families in Indonesia. Both families were referred from rural referral health centers, and each family has two affected siblings. They had freckle-like pigmentation on the face, trunk, and extremities, which progressed since childhood. One patient of family 2 died because of an infectious disease. Histopathological examination using cytokeratine (CK), CD10, and Ber-EP4 staining from available tissue biopsy of one affected case of family 1 identified basal cell carcinoma (BCC) on the cheek and melanoma on the right eye. Mutation analysis found ERCC2, c2047C>T and XPC, c1941T>A in the first and second families, respectively. We suppose that this is the first case report of XP in Indonesia that incorporates clinical examination, genetic analysis, and extensive histopathological examination, including immunohistochemistry staining, and a novel pathogenic variant of XPC was found in the second family.
    Matched MeSH terms: Biopsy
  19. Rownose CS, Mohamad Saupi MS, Sharif SZ, Lah NASN
    Ann Med Surg (Lond), 2021 May;65:102322.
    PMID: 33996055 DOI: 10.1016/j.amsu.2021.102322
    Introduction: Ductal Eccrine carcinoma (DEC) is a rare primary cutaneous tumor that exhibits both squamous and adnexal ductal differentiation. Due to its rarity in clinical practice we present as case of DEC and a literature review on the latest management of this rare disease.

    Case presentation: We report a case 41 years old female presented with lesion on the scalp and sternal mass, increasing in size with itchiness and erythematous for 6 months duration. Further CECT scan of brain and neck shows features of malignant left frontal scalp lesion with poor plane with overlying skin and underlying skull bone and CECT of thorax shows a large, irregular heterogeneously enhancing mass with necrotic center noted at right hilar within superior segment of right lower lobe, encasing right middle and lower lobe bronchi. Wedge biopsy of scalp lesion showed an intradermal lesion extensively infiltrating by malignant gland accompanied by desmoplasia and the tumor cells are seen extending into the surgical margins suggestive of ductal eccrine carcinoma.Clinical Discussion:This case highlights the importance and challenges in achieving early diagnosis coupled with the scarcity of information on these leads to difficulty in managing this patient.

    Conclusion: In managing Ductal Eccrine Carcinoma tumor, standard method of treatment for has not been established. However, wide surgical excision is the treatment of choice for localized lesions. Regarding prognosis, there is conflicting data published which we describe in this article.

    Matched MeSH terms: Biopsy
  20. Fadzli F, Rahmat K, Ramli MT, Rozalli FI, Hooi TK, Fadzli AN, et al.
    Medicine (Baltimore), 2021 Apr 23;100(16):e25297.
    PMID: 33879660 DOI: 10.1097/MD.0000000000025297
    To evaluate the clinical and imaging findings of papillary breast neoplasm and review the pathologic correlation at a tertiary center.Retrospective study of patients diagnosed with benign and malignant papillary lesions between 2008 to 2018. 147 patients were identified with histology diagnosis of papillary lesions. The clinical, imaging, and pathological characteristics were reviewed.Patient cohort included 147 women diagnosed with papillary lesions (mean age at diagnosis 53.8 years) and were divided into 3 histology groups (benign, atypical, and malignant). Common clinical presentations were breast lump (n = 60) and nipple discharge (n = 29), 48 patients were asymptomatic.Only 37 were detected as a mass lesion on mammogram. The presence of mass lesion on mammogram was the most common feature in all 3 papillary lesion groups, and with the presence of asymmetric density, were the 2 mammographic features significantly associated (P 
    Matched MeSH terms: Biopsy
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