Primary Adult Renal Ewing's Sarcoma: A Rare Entity.

Ewing's sarcoma/primitive neuroectodermal tumors are high-grade small round blue cell tumors traditionally found in children and adolescents.These tumors primarily affect the bone and soft tissue, with extraskeletal sites rarely being affected. The clinical presentation and imaging findings are non-specific and are not characteristic. The diagnosis is essentially based on the histopathologic findings assisted by immunohistochemistry and/or cytogenetic molecular studies. Proper diagnoses and timely management of this tumor are essential owing to the aggressive nature and poor prognosis of the disease.

Pediatric multifocal histiocytic sarcoma- a fatal diagnosis not to miss!

Histiocytic sarcoma (HS) is a rare hematolymphoid malignant neoplasm with an aggressive clinical course. It can arise de novo or from low-grade B-cell lymphoma. We describe the case of a 16-year-old boy referred to our hospital with generalized lymphadenopathy, weight loss, and decreased appetite for one month. The patient died undiagnosed on the 7th day of hospitalization. Lymph node and bone marrow biopsies were performed one day before the patient died. The lymph node biopsy revealed an architectural effacement with a diffuse proliferation of large pleomorphic neoplastic cells containing large, multilobulated nuclei, coarse vesicular chromatin, prominent nucleoli, and a moderate amount of eosinophilic cytoplasm. The bone marrow aspiration smears and biopsy also showed evidence of infiltration by these above-mentioned cells. Based on the morphology, along with the exclusion of many differential diagnoses by an extensive panel of immunohistochemical markers, a diagnosis of HS was made. This case report aims at evaluating all the clinical and immunophenotypic features of a case of HS with multifocal presentation and an aggressive clinical course in order to give a correct and definite diagnosis at the proper time.

Metanephric Adenoma with cystic changes- An uncommon presentation of a rare tumor in a young adult.

Metanephric adenoma (MA) is a rare benign neoplasm of the kidney that is usually asymptomatic and incidentally diagnosed. MA usually present as a solid mass; however, a cystic presentation has been reported. The main differential diagnosis of MA is the epithelial predominant Wilms tumor (e-WT) and the solid variant of papillary renal cell carcinoma (pRCC). The presence of the BRAF gene mutation has recently been reported in 85% of MA, and less than 10% of cases of MA do not express this specific gene mutation. Herein we report a 22-year-old man who presented with back pain and abdominal discomfort with a renal mass on the computed tomographic scan. The diagnosis of metanephric adenoma was confirmed histopathologically. In our case, the tumor presented as a solid and cystic mass hence mimicking a papillary renal cell carcinoma. The VE1 protein, which correlates with BRAF gene mutation, did not show any significant expression. We want to highlight that MA can present as a cystic lesion that should be taken into account to avoid unnecessary radical nephrectomy. Also, we demonstrated that a subset of MA might not harbor the BRAF gene and, they are classified as the BRAF wild type MA.

Down syndrome presenting with different hematological manifestations: A case series of four cases.

Children with Down syndrome (DS) are found to have an increased risk of developing various hematological disorders. Particularly, they have an increased predisposition to acute leukemia, predominantly the myeloid type known as myeloid leukemia of Down syndrome (ML-DS). The major morphological subtype is acute megakaryoblastic leukemia. Approximately 10% of the neonates with DS show a unique disorder known as transient leukemia or transient abnormal myelopoiesis (TAM). Their clinical and morphological features are indistinguishable from acute myeloid leukemia (AML); however, they regress spontaneously within the first few months of life. Here we present a series of four cases with different hematological conditions in children with DS. Of the four cases, two presented with AML-M7, one with TAM, and one case was diagnosed as AML-M2 subtype. This case series highlights the spectrum of hematological disorders in children with DS. Although the majority of the case studies show that TAM and AML-M7 are strongly associated with DS, this case series brings to focus that other AML subtypes may occur as well.

Pediatric multifocal histiocytic sarcoma- a fatal diagnosis not to miss!

Histiocytic sarcoma (HS) is a rare hematolymphoid malignant neoplasm with an aggressive clinical course. It can arise de novo or from low-grade B-cell lymphoma. We describe the case of a 16-year-old boy referred to our hospital with generalized lymphadenopathy, weight loss, and decreased appetite for one month. The patient died undiagnosed on the 7th day of hospitalization. Lymph node and bone marrow biopsies were performed one day before the patient died. The lymph node biopsy revealed an architectural effacement with a diffuse proliferation of large pleomorphic neoplastic cells containing large, multilobulated nuclei, coarse vesicular chromatin, prominent nucleoli, and a moderate amount of eosinophilic cytoplasm. The bone marrow aspiration smears and biopsy also showed evidence of infiltration by these above-mentioned cells. Based on the morphology, along with the exclusion of many differential diagnoses by an extensive panel of immunohistochemical markers, a diagnosis of HS was made. This case report aims at evaluating all the clinical and immunophenotypic features of a case of HS with multifocal presentation and an aggressive clinical course in order to give a correct and definite diagnosis at the proper time.

Metanephric Adenoma with cystic changes- An uncommon presentation of a rare tumor in a young adult

Metanephric adenoma (MA) is a rare benign neoplasm of the kidney that is usually asymptomatic and incidentally diagnosed. MA usually present as a solid mass; however, a cystic presentation has been reported. The main differential diagnosis of MA is the epithelial predominant Wilms tumor (e-WT) and the solid variant of papillary renal cell carcinoma (pRCC). The presence of the BRAF gene mutation has recently been reported in 85% of MA, and less than 10% of cases of MA do not express this specific gene mutation. Herein we report a 22-year-old man who presented with back pain and abdominal discomfort with a renal mass on the computed tomographic scan. The diagnosis of metanephric adenoma was confirmed histopathologically. In our case, the tumor presented as a solid and cystic mass hence mimicking a papillary renal cell carcinoma. The VE1 protein, which correlates with BRAF gene mutation, did not show any significant expression. We want to highlight that MA can present as a cystic lesion that should be taken into account to avoid unnecessary radical nephrectomy. Also, we demonstrated that a subset of MA might not harbor the BRAF gene and, they are classified as the BRAF wild type MA.

Pediatric Granular Cell Tumor of the Breast: An uncommon neoplasm in an uncommon site and age group

Granular cell tumor (GCT) is a rare soft tissue neoplasm of Schwann cell origin. Most cases occur in adults; however, the precise incidence is unknown in children. GCT is usually a slow-growing, painless tumor involving the skin and soft tissues that is mostly located in the head and neck region, especially the tongue. The breast is one of the least common sites involved by GCT. This paper presents a 3-year-old girl who presented with a soft to firm, ill-defined swelling on the right breast with painful ulceration of the overlying skin. Fine needle aspiration rendered an initial diagnosis of fibrocystic change accompanied by apocrine metaplasia. Histologic evaluation of the excised breast mass revealed a benign granular cell tumor. Although rare, GCT of the breast should be included in the differential diagnosis for breast masses in pediatric patients. Proper diagnosis and timely management of this tumor are essential because of its malignant potential (<2% of cases) and high rate of local recurrence if not properly excised.

Pediatric Granular Cell Tumor of the Breast: An uncommon neoplasm in an uncommon site and age group.

Granular cell tumor (GCT) is a rare soft tissue neoplasm of Schwann cell origin. Most cases occur in adults; however, the precise incidence is unknown in children. GCT is usually a slow-growing, painless tumor involving the skin and soft tissues that is mostly located in the head and neck region, especially the tongue. The breast is one of the least common sites involved by GCT. This paper presents a 3-year-old girl who presented with a soft to firm, ill-defined swelling on the right breast with painful ulceration of the overlying skin. Fine needle aspiration rendered an initial diagnosis of fibrocystic change accompanied by apocrine metaplasia. Histologic evaluation of the excised breast mass revealed a benign granular cell tumor. Although rare, GCT of the breast should be included in the differential diagnosis for breast masses in pediatric patients. Proper diagnosis and timely management of this tumor are essential because of its malignant potential (<2% of cases) and high rate of local recurrence if not properly excised.

Intraoperative Cytology of Ovarian Neoplasms with an Attempt to Grade Epithelial Tumors.

BACKGROUND: Intraoperative cytology (IOC) is a simple and quick technique with excellent preservation of cellular details. In the present study, we have evaluated the role of IOC by various methods of smear preparation and compared it with frozen section diagnosis. A scoring system was followed for epithelial tumors for characterization and grading on the basis of cellularity, pattern, nuclear, cytoplasmic features, and background details. MATERIALS AND METHODS: The study was conducted during a time span of 2 years in total 48 cases of ovarian tumors. Fine-needle aspiration cytology, touch/imprint, scrape, and crush techniques were used. The smears so prepared were processed for toluidine blue and Giemsa and Papanicolaou staining. Cases were cytomorphologically categorized into four groups: Indeterminate; unequivocally benign; borderline tumor with equivocal morphology; and unequivocally malignant (graded into well, moderately, and poorly differentiated). RESULTS: In our study, the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of 88.88, 96, 96, 88.88, and 92.31%, respectively, were recorded. This was comparable to frozen section diagnosis with a sensitivity, specificity, PPV, NPV, and accuracy of 85.18, 96.15, 95.83, 86.21, and 90.56%, respectively. In epithelial tumors, cytological grading correlated with histopathological grading in 85.29% cases of epithelial tumors. CONCLUSION: IOC gives comparable results to frozen section and can be used for intraoperative assessment of ovarian tumors. Grading of epithelial tumors on IOC can be performed and may become an important step in intraoperative decision-making for better management and outcome of the patient.

Extramedullary Haematopoiesis in a Case of Pilomatricoma.

Pilomatricoma is a benign follicular skin appendage tumour. It usually occurs as solitary lesion and is most commonly seen in the face and upper extremeties. Here we report a rare case of extramedullary haematopoiesis (EMH) in pilomatricoma in a 38-year-old lady.