Turkish Journal of Pathology - 2023; 39(3) - Current Issue

Histopathologic Features for Overall Survival in Merkel Cell Carcinoma: A Case Series with Intact Mismatch Repair Protein Expression

Selin KESTEL, Betul OGUT, Mehmet Arda INAN, Ozlem ERDEM — 2023-09-01

Objective: In a study of Merkel cell carcinoma (MCC), a fusion transcript between MLH1 and SPATA4 was identified. This fusion has the potential to generate the inactive or dominant-negative form of the protein. Therefore, we aimed to investigate whether mismatch repair protein deficiency occurr in MCC cases or not, in addition to the overall survival association with histopathologic features. Material and Method: A retrospective review of 15 patients diagnosed with a biopsy-proven Merkel Cell Carcinoma between 2012 and 2019 was performed. Mismatch repair (MMR) protein expressions were evaluated by immunohistochemistry. Results: The median follow-up time was 36 months (mean 41, range 2-103 months). Six (40%) patients died during follow-up. The overall survival (OS) at 1 year, 2 years, 3 years, and 5 years were 87%, 80%, 62%, and 53%, respectively. The patients diagnosed at <60 years had an improved OS compared to those ≥60 years of age (p=0.016). Patients in clinical stage I had better OS than patients in clinical stage IV (p=0.011). Cases with pathological tumor stage (pT) 1 had better OS than pT3 and pT4 (p=0.045). Adjuvant radiotherapy or adjuvant radiotherapy+chemotherapy treatment improved OS compared to adjuvant chemotherapy (p=0.003). MMR protein nuclear expression was intact in 12 cases available for immunohistochemical study. Conclusion: To the best of our knowledge, this is the second study that preferentially investigated the mismatch repair protein status of Merkel Cell Carcinoma. No mismatch repair protein deficiency of MCC cases was identified in the current study.

Evaluation of the Interstitial Histological Lesions in Pulmonary Langerhans Cell Histiocytosis

Halide Nur URER, Hatice DINCER — 2023-09-01

Objective: Pulmonary Langerhans cell histiocytosis is a cystic lung disease characterized by the proliferation of parenchymal dendritic cells. The disease can become chronic or even cause pulmonary fibrosis. Our aim in this study was to investigate the typical histological findings and interstitial fibrosis in pulmonary Langerhans cell histiocytosis cases. Material and Method: In the study, cases that had undergone diagnostic resection were screened. Smoking, histological stage (subacute, subacute-chronic), and cystic and eosinophilic granulomas were confirmed in the cases. In addition to emphysema, chronic nonspecific bronchiolitis, interstitial fibrosis (subpleural-paraseptal fibrosis, peribronchial fibrosis, fibrotic nonspecific interstitial pneumonia), honeycomb-type fibrocysts, and unexpected lesions were investigated. Descriptive and comparative (Fisher exact test) statistical analyses were used in the study (p<0.05). Results: A total of 27 cases were detected; age distribution was 17-68 (36.4). Smoking was present in 15 (55.5%) cases. Six (22.2%) cases were subacute, and 21 (7.7%) cases were subacute-chronic histological stage. A cystic lesion was present in 22 (81.4%) cases. All cases had emphysema accompanying the underlying lesions. Chronic nonspecific bronchiolitis was detected in 14 (51.8%) cases. Interstitial fibrosis was detected in 8 (29.6%) patients. Compared to interstitial fibrosis and nonfibrosis, there was no significant difference between being younger than 39 years, gender, smoking, and histological stage (p=0.41; 1; 0.69; 0.63, respectively). Conclusion: There is a risk of developing interstitial fibrosis patterns and honeycomb-type fibrocysts in the progression of pulmonary Langerhans cell histiocytosis. Histopathological evaluation can play an important role in the detection of risk groups.

Information Adequacy in Histopathology Request Forms: A Milestone in Making a Communication Bridge Between Confusion and Clarity in Medical Diagnosis

2023-09-01

Objective: Information contained in request forms for histopathological examinations plays a critical role in the microscopic interpretation of tissue changes. Despite its importance, studies have shown inadequacies in the information communicated by clinicians. This study aimed to determine how well the necessary information is provided on the histopathology request forms and to compare its variability among different departments of a hospital. Material and Method: A retrospective, 3-month, cross-sectional study was conducted to evaluate all consecutive histopathology request forms received from different departments of a tertiary, academic hospital for three months, regarding the documentation of 12 criteria. Results: None of the 2040 requests received had all the required items. Four items of specimen description, laboratory and imaging findings, and physician contact number were available only in less than 12.5% (range between 0.05 to 12.45%) of the requests. However, four other items of patient name and contact number, physician name, and anatomical site of the lesion were documented in more than 90%. The median number of the documented items was the highest in the surgery and orthopedics (9 items) and the lowest in the pulmonology department (7 items). Comparison between departments showed that the documentation of items in the surgery department were significantly better than that of the ENT, urology, and internal medicine departments (p<0.001). Also, the internal medicine department was significantly different from all other departments (p<0.001) except neurosurgery (p=0.88). Conclusion: Our results point out a serious gap in the adequacy of pathology request forms, especially clinical items. Given the implication of such information to ensure patient safety, further studies are recommended to evaluate the impact of educational and supportive computerized interventions such as clinician education and barcoding and specimen tracking systems to help fill in the required items completely.

Skin Lesions in Children: Evaluation of Clinicopathological Findings

2023-09-01

Objective: Pediatric skin diseases may show various manifestations, occasionally affecting the patients� quality of life. Histopathological examination may be required for the diagnosis. The aim of this study was to evaluate the spectrum of clinicopathological features in pediatric skin lesions. Material and Method: A total of 368 biopsies of 359 consecutive patients were included. The clinicopathological findings were retrospectively evaluated. Non-neoplastic (inflammatory) lesions (ILs) (n=186) were grouped per their origin, while neoplastic/proliferative lesions (NPLs) (n=182) were grouped based on their pattern. The clinical and histopathological characteristics were statistically analyzed. Results: 51% were male and the median age was 10.4�4.9 years (range 0-17). ILs mainly involved the head and neck, and NPLs were mostly located in the lower extremity (p<0.001). The most common NPLs were benign nevus (18%, n=33) and pilomatrixoma (15%, n=27), while the most frequent IL was spongiotic/psoriasiform dermatitis (38%). Skin appendage/connective tissue tumors were the largest among NPLs (p=0.02). NPLs were more frequently seen in children >12 years old compared to ILs (p=0.03). The discordance rate between clinical and histopathological diagnoses was higher for NPLs (27% vs. 15%). Conclusion: Although the spectrum of skin lesions is broad in pediatric patients, most are benign in nature. The higher frequency of melanocytic and/or cystic lesions among children >12 years old may be attributed to increased self-care during puberty. Neoplastic/proliferative lesions of childhood seem to be less commonly recognized by clinicians, and a multidisciplinary approach remains the optimal method, considering the relatively high rate of discordance between the clinical and histopathological diagnoses.

Evaluation of Relative Frequency of Pulmonary Hypoplasia and Various Anomalies Associated with Pulmonary Hypoplasia in Fetal Autopsy Study

Aparna SAJJAN, Surekha U ARAKERI, Subhashchandra MUDANUR — 2023-09-01

Objective: Pulmonary hypoplasia (PH) is one of the commonest causes of neonatal morbidity and mortality. The suggested diagnostic criteria for PH are the Lung Weight:Body Weight (LW:BW) ratio ≤ 0.012 and/or Radial Alveolar Count (RAC) ≤ 4.1. The present study was done to determine the relative frequency of PH in fetal autopsy study by the LW:BW ratio and RAC along with evaluation of the defects/anomalies associated with PH. Material and Method: A prospective observational study was done on fetal autopsy specimens in the Department of Pathology. Examination and grossing were done as per the standard format of fetal autopsy study. Evaluation of PH was done using the LW:BW ratio and RAC. Diagnostic criteria for PH were taken as LW:BW ratio <0.012 and/ or RAC < 4.1. Chi-square test, Student T test and Kruskal Wallis test were used in statistical analysis. Results: A diagnosis of PH was made in 45 cases. Concordance between the LW:BW ratio and RAC was observed in 33 cases amounting to 73.33%. The mean LW:BW ratio was the lowest in oligohydramnios. The mean RAC was the lowest in congenital cystic adenomatoid malformation. Conclusion: A diagnosis of PH was rendered in a greater number of cases when evaluation was done by considering both the LW:BW ratio and RAC. Hence, evaluation by both the LW:BW ratio and RAC provides a reliable index of lung growth and should be an essential part of fetal autopsy study.

Lobomycosis in a Post-Covid 19 Patient: A Case Report and Review of Literature

Sateesh S CHAVAN, Thotadamane Nagaraja CHANDRASHEKHAR — 2023-09-01

Aim: To document a case of lobomycosis and to discuss its epidemiology & diagnosis. Case Report: A 53-year-old male presented with a history of nasal congestion, nasal discharge, and epistaxis following Covid 19 infection. On physical examination, there was necrotic slough in the nasal vestibule near the inferior turbinate. Scrapings and punch biopsy were taken from the lesion. Hematoxylin-eosin-stained sections showed necrotic and mucoid areas with mixed inflammatory cell infiltration and numerous budding yeasts 3- 7μm diameter in singles, and small clusters with single narrow based budding as well as multiple budding including sequential budding forming �chains of yeasts�. A diagnosis of Lobomycosis was made. Yeasts of lobomycosis are often confused with other yeasts such as P. brasiliensis, Candida spp., B. dermatitidis, and Cryptococci, but characteristic �sequential budding� with a �chain of yeasts� aid in the final diagnosis. Demonstration of yeasts with characteristic chains either in tissue sections or in potassium hydroxide (KOH) preparation of scraped material, exudate, or exfoliative cytology is the mainstay in the diagnosis as the organisms are uncultivable in vitro in culture medium.

Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies

Sultan CALISKAN, Omer Salih AKAR, Seda GUN, Mehmet KEFELI — 2023-09-01

A perivascular epithelioid cell tumor (PEComa) is an uncommon mesenchymal tumor composed of perivascular epithelioid cells. These tumor cells show variable immunoreactivity for both melanocytic and myogenic markers. Occurrence of PEComa has been reported at various anatomical sites, including the gynecological tract, uterus being the most common. Although most patients have sporadic PEComas, a subset may be associated with the inactivation of TSC1 or TSC2 genes and the occurrence of TFE3 gene fusions. However, a relationship between PEComas and other tumors is rare. We report a 41-year-old female patient with malignant PEComa who was admitted to the hospital with a complaint of vaginal bleeding. Because she had previously been diagnosed with colorectal and breast carcinomas at an early age, we performed a comprehensive genetic analysis to identify molecular alterations present in her background that unveiled multiple malignancy predispositions. Next-generation sequencing (NGS) analysis revealed two heterozygous germline pathogenic variants in the ATM and TP53 genes and a heterozygous variant of unknown significance (VUS) in the BRCA2 gene. The patient was diagnosed with the Li-Fraumeni Syndrome owing to the medical and family history and also the presentation of a pathogenic mutation of the TP53 gene. There are very few case reports in the literature describing PEComa in the Li-Fraumeni syndrome, and this is the first report of a uterine PEComa in a patient with Li-Fraumeni syndrome.

Dermatofibroma with Verocay Body-Type Palisading Features and a Brief Discussion on Potential Schwannoma Mimickers of the Skin

Yunus Baran KOK, Cuyan DEMIRKESEN — 2023-09-01

Several types of cutaneous tumors can show palisading features or the so-called rippled pattern. The list includes adnexal tumors such as trichoblastoma and sebaceoma, basal cell carcinoma, leiomyoma, perineuroma, myofibroblastoma, and even malignant melanoma. Dermatofibroma, which is known for having a large variety of histological patterns, is also in the list. Here we present a case of dermatofibroma with palisading features strikingly similar to Verocay bodies of schwannoma.