Darier-Ferrand dermatofibrosarcoma protuberans of the face: Case report and literature review.

INTRODUCTION: Darier Ferrand Dermatofibrosarcoma (DFSP) is a rare skin tumor, characterized by its local aggressivity and high potential of recurrence. It affects mainly young and middle-aged adults. Its location in the head and neck region represents nearly 12.5 % of all DFSP. CASE DESCRIPTION: We report a rare case of a 68-year-old patient who was treated for a DFSP of the cheek's lower part with reconstruction using a pectoralis major musculocutaneous flap. The postoperative course was uneventful and the aesthetic result was good. DISCUSSION: DFSP is a tumor of intermediate malignancy. Its optimal management is based on complete surgical excision requiring various reconstruction procedures for large defects. The treatment of unresectable lesions remains difficult despite the targeted therapies proposed and the improvement of radiotherapy techniques. CONCLUSION: The ideal management of a DFSP is based on surgical excision passing largely in healthy tissues. This situation requires early diagnosis and is the guarantee of disease-free survival without major sequelae in head and neck locations.

Primary lung low-grade fibromyxoid sarcoma: A rare case with A diagnostic dilemma.

Low-grade fibromyxoid sarcoma (LGFMS) is a rare, low-grade malignant soft tissue tumor that is often mistaken for benign or more rarely malignant tumor types. Commonly, this tumor affects young adults and typically arises in the deep proximal extremities or trunk with frequent recurrences and can metastasize to the lungs many years late. Visceral LGFMS is extremely rare. Only a few cases of primary LGFMS of the lung have been reported. Here, we present the clinical, gross, microscopic, and immunohistochemical characteristics of Evans tumor occurring in the lung with a review of the literature and discuss the differential diagnosis in this exceptional localization.

De novo male breast metastases from nasopharyngeal carcinoma: a case report.

BACKGROUND: Nasopharyngeal carcinoma is known for its high potential for regional and distant metastasis. However, breast metastasis is rarely reported. CASE PRESENTATION: A 39-year-old Caucasian male presented with bilateral neck lymph node enlargement. Radiological examination with contrast-enhanced computed tomography scan and breast imaging revealed an enhancing mass lesion in the right breast. Histopathology of the nasopharynx mass was suggestive of undifferentiated nasopharyngeal carcinoma. A breast biopsy confirmed the diagnosis of synchronous breast metastasis from the nasopharyngeal carcinoma. We present this study to illustrate that Nasopharyngeal carcinoma can metastasize to the male breast. Furthermore, the high incidence of nasopharyngeal carcinoma metastasis underscores the pressing need to identify effective and safe strategies, emphasizing the importance of utilizing computed tomography scans for metastasis detection. CONCLUSION: The present study illustrates the first case of synchronous male breast metastases from nasopharyngeal carcinoma. Thus, it is critical to distinguish between metastatic pathology and coexisting second malignancies to plan appropriate therapy.

Pneumocystis jirovecii pneumonia in a healthy immunocompetent patient: A case report and literature review.

Pneumocystis jirovecii pneumonia, typically an opportunistic infection, is commonly associated with risk factors such as low CD4+ lymphocyte count, underlying malignancies, organ transplantation, or immunosuppressive medications. However, occurrences in healthy individuals without known risk factors are exceptionally rare and sparsely documented. In our retrospective analysis of a 42-year-old male without past medical history at Abderrahmane Mami Hospital, Tunisia, Pneumocystis jirovecii pneumonia was diagnosed. The patient presented with fever, productive cough, hemoptysis, and a decline in general health. Clinical examination revealed fever and hypoxemia, and imaging studies demonstrated bilateral necrotic alveolar opacities. Despite empirical antibiotics, nonresponse necessitated bronchoscopy, confirming Pneumocystis jirovecii. Treatment with oral Sulfamethoxazole-Trimethoprim yielded excellent outcomes. This case highlights the potential occurrence of Pneumocystis jirovecii pneumonia in immunocompetent individuals, underscoring the importance of direct microbiological methods in assessing suggestive clinical and radiological features.

[Reversed polarity high-cell carcinoma of the breast: A case report]. / Carcinome à cellules hautes et à polarité inversée du sein : à propos d'un cas.

Reverse polarity high-cell carcinoma of the breast, formerly known as reverse polarity solid papillary carcinoma, is a rare entity recently introduced into the latest edition of the WHO classification of breast tumors. Its phenotype is triple-negative, and its diagnosis difficult. Although few cases have been reported in the literature, knowledge of this breast tumor is essential to distinguish it from other triple-negative carcinomas, which have a poorer prognosis. We report a case of high-cell, inverted-polarity carcinoma of the breast in a 43-year-old female patient with no history of breast neoplasia and no palpable mass on clinical examination. The tumour was discovered following a screening echomammogram, which revealed a lesion classified ACR 4b. A microbiopsy of this lesion concluded that it was a papillary proliferation that should be removed. A lumpectomy was performed. Histopathological and immunohistochemical studies of the surgical specimen confirmed the diagnosis of high-cell, reverse-polarity carcinoma expressing calretinin and IDH1. Given the rarity of this entity, there is no standard treatment. In our case, a mastectomy without lymph node curage was performed. The extension work-up was negative and the patient received no adjuvant treatment. After 12 months, the patient is in complete remission. In this case report, we describe the histopathological, immunohistochemical and molecular features of this rare entity.

PDL1 and molecular biomarkers expression in non-small cell lung cancer in Tunisian patients.

In cancer treatment, programmed death-1 (PD-1) and programmed death ligand-1 (PD-L1) inhibitors are thriving. Activated T lymphocytes expressed PD-1, it works with its ligand PD-L1 to limit T lymphocyte activation and prevent autoimmune disease. The expression of molecular biomarkers and PD-L1 in lung cancer determines the appropriate treatment strategy for patients with lung cancer. The purpose of this study was to look at the prevalence of molecular biomarkers and PD-L1 expression in a large group of Tunisian patients with advanced non-small cell lung cancer. We conducted an observational retrospective study in which medical/treatment history data were extracted retrospectively from medical records and archived tissue samples between January 1st 2019 and December 31st 2021. We gathered 157 patients who had recently been diagnosed with non-small cell lung carcinoma. In 36.9%of the cases, there was no molecular genotyping. EGFR (28.6%), KRAS (5.73%), and ALK gene rearrangement were the most common genotyping mutations (3.8%). ROS1 rearrangement was not present. There was a link between EGFR and gender, HER and age, and KRAS and biopsy tissue origin. Six of the tested cases with PD-L1 met the cut-off (³50%). PD-L1 positivity was more common in solid type adenocarcinoma (1.9%) than in acinar or papillary adenocarcinoma. There were no significant differences in PD-L1 expression across clinical and demographic parameters. High PD-L1 expression and molecular abnormalities were found in 1 case of EGFR, 1 case of BRAF, and 1 case of KRAS (3 cases). All of the other specimens with abnormalities had a PD-L1 <50%. ALK, ROS1, BRAF, KRAS, and MET were found to be significantly associated with PD-L1 expression. Our study is one of the country's largest, describing a large panel of biomarkers and their clinicopathologic/histopathologic associations in Tunisian lung cancer patients. We have the same molecular profile as European patients with an EGFR mutation, which is not the most common genotype abnormality in Tunisian patients. There is only one mutation at any given time. The expression of PD-L1 is determined by the histologic type and the origin of the biopsy tissue.

Solid-basaloid variant of adenoid cystic carcinoma of the breast unresponsive to neoadjuvant chemotherapy: Case report.

INTRODUCTION AND IMPORTANCE: Adenoid cystic carcinoma (ACC) is a rare triple-negative breast cancer, accounting for only 0.1 % of all primary breast carcinomas. At variance with the classic variant, the solid-basaloid variant of ACC (SB-ACC) is clinically more aggressive and has different molecular features. There is, currently, no consensus regarding the treatment of SB-ACC of the breast, especially the use of neoadjuvant chemotherapy. CASE PRESENTATION: Here, we present a rare case of SB-ACC in an elderly female patient, with no history of breast carcinoma, who presented with a 4.5 cm central round mass invading the nipple. Given the locally advanced triple negative breast cancer and the invasion of the nipple-areolar complex, the patient has received neoadjuvant chemotherapy followed by surgical treatment. On histopathological examination, the diagnosis of SB-ACC, non-responsive to neoadjuvant chemotherapy, with absence of rearrangement of the MYB gene was retained. The patient received adjuvant radiation therapy and was ambulatory followed without recurrence at the 12-month follow-up. DISCUSSION/CONCLUSION: This case provided direct evidence that SB-ACC of the breast wasn't responsive to neoadjuvant chemotherapy but cannot allow for definitive conclusions on chemotherapy recommendations. For this reason, more data must be published to investigate the real value of neoadjuvant chemotherapy in SB-ACC.

Granular cell tumor of the lung and tracheobronchial tree: Two case-presentation with a review of the literature.

Pulmonary granular cells tumors (CGT) are rare tumors, that derive from Schwann cells. In the tracheobronchial and pulmonary tree, they remain a diagnostic challenge. There are no well-established criteria to differentiate between benign, atypical, and malignant GCT. Moreover, its real frequency in the respiratory tract is still unknown. Here, we represent 2 cases of bronchial and lung GCTs. We aim to highlight the frequency of all clinicopathological characteristics of this rare tumor in the tracheobronchial and pulmonary tree location based on our cases and the available literature in a large systematic review.

Rifampicin-induced acute tubulointerstitial nephritis during pulmonary tuberculosis treatment: A case report.

Drug-induced tubulointerstitial nephritis is an uncommon complication in patients on anti-tuberculosis therapy that can lead to permanent kidney damage. Rifampicin is the most offending drug. We report a case of a 41-years old man being treated for pulmonary tuberculosis and presenting with tubulointerstitial nephritis associated with rifampicin. We focus on diagnosis features and therapeutic challenges.

Mismatch Repair Deficiency in Endometrial Cancer: Immunohistochemistry Staining and Clinical Implications.

INTRODUCTION: DNA mismatch repair (MMR) deficiency is associated with increased risk of developing several types of cancer and is the most common cause of hereditary endometrial cancer. Identification of the microsatellite instability (MSI) phenotype in endometrial carcinoma is important given that such tumors are frequent. OBJECTIVE: The objective of this study was to assess the utility of immunohistochemistry (IHC), a simple and fast technique, in detecting MSI status in endometrial carcinoma and evaluate the correlation between the MSI phenotype and the various anatomo-clinical parameters. METHODS: IHC expression of 4 markers (MLH1, MSH2, PMS2, and MSH6) was studied. For all IHC markers, a combined score based on the intensity of nuclear labeling and the percentage of labeled cells was defined to establish a score. Correlation between MSI phenotype and different clinicopathologic parameters was evaluated using statistical analysis (software STATA and the Fisher exact test). RESULTS: The mean age of the patients was 58.6 years. Positive staining was highly extended (score 3) with 79% to 100% of marked cells. Less than 10% of positive tumor cells were seen in 3% of cases for MSH6 and PMS2. Abnormal MMR IHC was detected in 10 cases (22.22%). Seven tumors showed loss of MLH1/PMS2. The loss of MSH2/MSH6 was observed in 1 case. The loss of MLH1 or PMS2 was seen only in 2 cases. The number of MSI positive status was 10 cases (22.7%). Correlation between clinicopathologic parameters showed MMR deficiency was significantly associated with low-grade tumor and localized stage. There was no positive correlation between age, histologic subtype, or myometrium invasion. CONCLUSIONS: In summary, detection of DNA MMR deficiencies by IHC can effectively diagnose the MSI phenotype in endometrial carcinoma. Correlation between clinicopathologic parameters showed MMR deficiency was significantly associated with low-grade tumor and localized stage.

Intracranial grade I meningiomas: Confrontation between histological examination and magnetic resonance imaging.

INTRODUCTION: Meningiomas are tumors derived from arachnoid cells. More than 90% of cases have a benign clinical course and are classified as grade I according to the World Health Organization. A confrontation between radiologic findings and pathological examination is necessary to predict the grading of meningiomas. OBJECTIVES: To study the radiological presentation by magnetic resonance imaging (MRI) and pathological features of intracranial meningiomas grade I. METHODS: This was a retrospective descriptive study of a series of 35 cases of grade I meningiomas. A review of MRI images was performed in this study. RESULTS: Our series consisted of 25 female and 10 male patients with a mean age of 49.2 years.The tumor was localized at the base of the skull in 20 cases (57.14%). The average size was 49 mm. At MRI, all meningiomas were solid showing enhancement after injection of contrast agent. This enhancement was homogeneous in 21 cases and heterogeneous in 14 cases. The edema was broad and extended in 15 cases, reduced in 8 cases and absent in 12 cases. The mean minimum apparent diffusion coefficient was 0.77 and the mean maximum average diffusion coefficient was 0,8. On histological examination, the meningioma was of meningotheliomatous type in 23 cases (65.7%), fibroblastic in 8 cases (22.9%), transitional 3 cases (8.6%) and angiomatous in one case (2,8%). CONCLUSION: Although the final diagnosis of meningioma is mainly based on pathological examination, comparison with imaging is also important to orient the pathologist.

Evaluation of tumor-free distance and depth of myometrial invasion as prognostic factors in endometrial cancer.

The aim of the study was to investigate whether the tumor free distance (TFD), which is the distance in millimeters between the deepest point of invasion and the serosal surface, and absolute depth of invasion (DMI), the distance in millimeters between the endomyometrial junction and the deepest point of myometrial invasion, are useful in surgical staging and in predicting prognosis. The present study retrospectively analyzed 62 cases of endometrial carcinoma with complete surgical staging, carried out over a 4 and half-year period (January 2003 to June 2007). All surgicopathological findings including surgical stages, histological type and grade, myometrial invasion, lymphovascular space invasion, cervical and adnexal involvement, and lymph node metastasis were abstracted from medical records and pathological reports. Univariate and multivariate analyses were performed comparing TFD, DMI and the percentage of mypmetrial invasion (MI) with established prognostic factors. A total of 62 patients were included in the study. A total of 52 (84%) had endometrioid carcinomas and 31 patients (60%) had grade 1 cancer. The deepest MI was <50% in 32 patients (52%). Median DMI was 2.7 mm (range 0-15 mm). Median TFD was 3 mm (range 0-19 mm). There was lymphovascular space invasion (LVSI) in 11 patients (17.5%), cervical involvement in 11 patients (17.5%), extra-uterine extension in 9 cases (14%) and lymph node metastasis in 12 patients (22%). It was demonstrated that 50% MI was significantly associated with prognostic factors (cervical involvement, type 2 carcinomas and LVSI, and was a significant predictor of the 5-year overall survival rate and recurrence-free survival (P=0.05, P=0.01). No significant association was observed between DMI and TFD with clinicopathological parameters and survival rates. The importance of DMI in predicting recurrence of disease was observed to be highest in terms of sensitivity and specificity. The cut-off value with the highest sensitivity and specificity crossing the receive operating characteristic curve was calculated to be 3 mm for DMI and 2.5 mm for TFD. The results indicate that DMI is a superior predictive factor of recurrence of the disease compared with TFD. However, further studies are required in order to prove the prognostic usefulness of these parameters and then to improve management of endometrial cancer.

Evaluation of fine needle aspiration cytology in the diagnosis of cervical lymph node lymphomas.

PURPOSE: Surgical biopsy examination is the gold standard for the diagnosis of lymph node lymphomas. Fine-needle aspiration cytology (FNAC) is a quick and safe method in the management of cervical lymph nodes. Its value in confirming recurrent or residual lymphoma is well established. However, its role in the primary diagnosis of lymph node lymphoma remains controversial. The aim of this study was to assess, in our experience, the reliability of FNAC in the diagnosis of cervical lymph node lymphomas. MATERIALS AND METHODS: This was a retrospective study carried out over a 6-year period (January 2011 to December 2016) and conducted at the Cytology Unit in our Pathology Department (Charles Nicolle Hospital, Tunisia). The measures of diagnostic accuracy of FNAC in the diagnosis of cervical lymph node lymphomas were calculated taking histopathology as the gold standard. RESULTS: A total of 937 FNA samples were obtained from 851 patients. The diagnosis of lymphoma was obtained in 65 cases (6.9%). Cytological diagnoses of lymphoma were as follows: 28 (44%) Hodgkin lymphoma, 17 (25%) high-grade lymphoma, 15 (23%) low-grade lymphoma, and 5 (8%) "suggestive of lymphoma." FNAC of cervical lymph nodes had a sensitivity of 95.5%, specificity of 98.7%, positive predictive value (PPV) of 97.7%, and negative predictive value (NPP) of 97.5%. CONCLUSION: The present study demonstrated that cytology is capable to detect nodes suspicious for the presence of lymphoma precisely, in terms of low- or high-grade lymphoma, which is a relevant and very achievable first step in the management of patients with cervical lymph node lymphoma.

Efficacy of Fine-Needle Aspiration Cytology in the Diagnosis of Tuberculous Cervical Lymphadenitis.

OBJECTIVE: This study assesses the role of fine-needle aspiration cytology (FNAC) in the diagnosis of tuberculous lymphadenitis (TL) in comparison with histology and bacteriology findings. STUDY DESIGN: We undertook a descriptive retrospective study of 937 FNAC specimens from 851 patients with cervical lymph nodes. The FNAC findings were then compared to histopathology and bacteriology. RESULTS: Of the 937 aspirates, the cytopathological diagnoses consisted of 426 (55.9%) TL, 185 (24.3%) reactive lymphoid hyperplasia, 18 (2.3%) suppurative inflammation, 78 (10.2%) malignant metastatic tumor, and 54 (7%) lymphoma. Of the 426 TL cases, 171 were diagnosed by FNAC combined with bacteriological examination. In this group, 22 cases were found to be positive on Ziehl-Neelsen stain and 16 by culture. A histopathology report was available for 62 cases. Compared to histopathology, the overall diagnostic sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of FNAC in the diagnosis of cervical TL were, respectively, 96.77, 100, 100, and 96.67%. When comparing bacteriology to histopathology, these values were 97.44, 100, 100, and 91.67%. CONCLUSION: Our study shows that FNAC is a sensitive and specific tool for the diagnosis of cervical TL.

Neuroendocrine differentiation in basal cell carcinoma.

Basal cell carcinoma (BCC) is the prototypical basaloid tumor of the skin. It may show various patterns simulating other cutaneous tumors due to its pleomorphism. It may have an unusal pattern of differentiation such as squamous, sebaceous, apocrine, eccrine, pilar, and endocrine differentiation. In order to establish the relative frequency of neuroendocrine differentiation in BCC, we performed a retrospective study of 33 consecutive BCCs using conventional immunohistochemistry with two neuroendocrine antibodies: Chromogranine A and synaptophysine. The age of the patients ranged from 17-83 years with mean of 65 years. The male to female ratio was 16:17. In immunohistochimestry, Chromogranine A was seen in 72.2% (24/33) while Synaptophysine was positive in 9.09% (3/33). Their expression was cytoplasmic and membranous and was seen in the periphery of these tumors in the overlying cells. Positive staining of chromogranine A was high (75-100% of tumors cells) in 9%, intermediate (25-75% of tumors cells) in 33% of cases and relatively low (<25%) in 30.3% of cases.