Myeloid sarcoma: Experience from a tertiary care center in southern India - A series of eight unusual cases.

BACKGROUND: Myeloid sarcoma (MS) is a tumor mass comprising myeloid blasts with or without maturation occurring in any site other than bone marrow. It is a rare and distinct clinical presentation of myeloid neoplasm. MATERIALS AND METHODS: This is a retrospective study over 7 years (2015-2022) comprising a series of eight cases, which includes clinical details, morphology, immunohistochemistry (IHC) markers, cytogenetics, and molecular details. RESULTS: These cases showed up as an isolated MS (3/8), as an initial clinical presentation in acute myeloid leukemia (1/8), as acute myeloid leukemia (1/8), as a disease progression in primary myelofibrosis (1/8), as chronic myeloid leukemia (1/8), and as BCR-ABL-negative myelodysplastic syndrome/myeloproliferative neoplasm (1/8). One of the three isolated MS was incorrectly identified as having Ewing's sarcoma. One case each presented at the cervical lymph node, mediastinum, skin, sacral soft tissue, maxillary sinus, and perinephric fat, and two cases presented at the hard palate. CONCLUSION: Four of the cases in our study were clinically thought of as lymphoma/sarcoma, which was a major diagnostic challenge. All but one case succumbed to their disease. Without adequate clinical history and appropriate use of ancillary techniques such as IHC in tissue biopsies, flow cytometry, cytogenetics, and molecular studies, these cases have a high chance of being misdiagnosed as non-Hodgkin lymphoma, small round blue cell tumor, or undifferentiated carcinomas, which can complicate patient management and prognosis.

Soluble Tumor Necrosis Factor Receptor 2: A Promising Predictive Biomarker for Renal Dysfunction in Membranous Glomerulonephritis.

Background and objective Membranous glomerulonephritis (MGN) is a common cause of adult nephrotic syndrome. Tumor necrosis factor-α (TNF-α) is a proinflammatory cytokine that signals by attaching to TNF receptors. TNF-α plays a pivotal role in the development and progression of different forms of glomerulonephritis. Several research findings suggest that TNF-α receptors (TNFR1 and TNFR2) are predictors of estimated glomerular filtration rate (eGFR) decline. In light of this, this study aimed to explore the relationship between TNFR2 and eGFR, as well as the predictive role of TNFR2 in eGFR decline in MGN. Methods A total of 50 consecutive patients with a diagnosis of primary MGN based on renal biopsies and clinical workups were included in the study. TNFR2 levels in serum, urine, and gene expression were evaluated at baseline and after three months of follow-up by using enzyme-linked immunosorbent assay (ELISA) kits for TNFR2 (KTE60215, Abbkine, Wuhan, China). Cox regression was employed to determine the predictive significance of TNFR2 in persistent eGFR decline. Additionally, an ROC curve analysis was conducted to assess the prognostic value of TNFR2 in predicting persistent eGFR decline among MGN patients. Results We assessed the levels of inflammatory markers TNF-α and TNFR2, examined their correlation with eGFR and renal injury, and investigated their potential in predicting persistent eGFR. Patients with MGN exhibited elevated levels of TNFR2 in their serum, urine, and gene expression compared to healthy individuals. Additionally, there was a positive correlation between serum TNFR2 and TNF-α, urine protein-creatinine ratio (UPCR), uric acid, and total cholesterol. Conversely, there was a negative correlation with eGFR, serum albumin, and calcium. Serum TNFR2 showed statistical significance in a univariate Cox regression analysis (HR: 1.010, 95% CI: 1.00-1.01, p = 0.045) for predicting a persistent decline in eGFR. However, it did not show significance concerning relapse and remission. An ROC curve was created to assess TNFR2's prognostic potential as a biomarker, demonstrating an AUC of 0.683, with a sensitivity of 68% and specificity of 64%. Conclusions Based on our findings, TNFR2 is a predictive biomarker for eGFR decline in MGN, correlating with renal inflammation and predicting deterioration in renal function. TNFR2 emerges as a promising biomarker for early identification in patients at risk of renal function decline.

An Uncommon Salivary Gland Swelling- Parotid Duct Cyst and Its Management.

Cysts in the parotid region are more common in the gland than in the duct. Isolated cyst of parotid duct is a rare presentation. The treatment for most of the cystic lesions of the parotid or the parotid duct is the excision of the cyst with superficial parotidectomy. However, these lesions can be approached intra-orally for marsupialization achieving the same surgical results with less morbidity. This paper presents a rare case of parotid duct cyst which was managed by intraoral drainage and marsupialization. A 53-year-old female presented with swelling in the right cheek, associated with frequent fluid drainage inside the oral cavity for four months. Radiology and Fine needle aspiration revealed a benign parotid duct cyst with normal parotid gland. It was managed by a simple surgical technique of marsupialization. The patient was followed up for 1 year with no evidence of recurrence. Marsupialization obviates the need for parotidectomy in the simple cystic lesion of the parotid duct, unlike the cystic lesion in the gland per se and also reduces risk of recurrence. The simplicity and lack of major complications make it an effective treatment for salivary duct cysts.

Plasmacytoid urothelial carcinoma with duodenal metastasis-A rare tumor with unusual site of metastasis with grim outcome.

Plasmacytoid urothelial carcinoma (PUC) is a newly recognized rare variant of urothelial carcinoma, which is now being increasingly diagnosed prospectively as well as by retrospective analysis of cases with a poor prognosis. Morphologically, these tumors simulate plasma cell neoplasms and pose a diagnostic challenge. Identifying this variant is essential in two aspects: therapy and prognosis. Here, we present a case who underwent multiple transurethral resection of bladder tumor (TURBT) procedures, each with a diagnosis of urothelial carcinoma, the plasmacytoid type which was confirmed on radical cystectomy, and after 1 year, the patient presented with duodenal metastasis. We discuss the morphological aspects of differentiating this tumor from variants of urothelial carcinoma and other tumors with a plasmacytoid appearance. Despite the recognition and aggressive treatment, the patient expires within 2 years of the first diagnosis of bladder carcinoma.

Pancreatic Carcinoma Causing Schnitzler's Metastasis.

Schnitzler's metastasis occurs due to the deposition of the tumor cells in the submucosa of the rectum, leading to rectal stenosis. We present a 60-year-old female who presented with abdominal pain, distension, and vomiting. Abdominal examination showed a distended abdomen and palpable bowel loops, and per rectal examination showed rectal stenosis. Imaging studies suggest rectal stenosis with carcinoma of the pancreas head. The patient was diagnosed with Schnitzler's metastasis with carcinoma of the pancreas head, which has not been reported in the literature. The patient underwent a diversion sigmoid colostomy and was planned for palliative chemotherapy after stenting the common bile duct.

Diagnostic utility of immunohistochemical markers alpha methyl acyl coA racemase (AMACR) and Ets related gene (ERG) in prostate cancer.

OBJECTIVES: To study the sensitivity and specificity of IHC markers AMACR and ERG in prostatic adenocarcinoma. METHODS: The study was a prospective one and samples were collected from August 2014 to June 2016. A total of 186 samples were obtained from the Department of Urology, in which 112 of these were benign prostatic hyperplasia (BPH), and 71 were prostatic adenocarcinoma. The adenocarcinoma cases were evaluated by two histopathologists, and appropriate Gleason score was given according to the modified ISUP Gleason grading system (2016). IHC markers AMACR & ERG were performed on the adenocarcinoma cases and their sensitivity and specificity were calculated. RESULTS: AMACR was a highly sensitive and specific marker for detecting prostatic carcinoma with a sensitivity and specificity of 95.8% and 96.5% respectively. ERG was a very specific marker with poor sensitivity in detecting prostate cancer. The sensitivity and specificity of ERG were 35.2% and 100% respectively. ERG expression decreased with increasing Gleason grade, PSA level, and tumour volume, which was statistically significant while the association of AMACR with Gleason grade or with tumor volume was not significant. CONCLUSION: ERG is a marker of early prostatic carcinogenesis and tumors may be positive or negative subtypes. Special histomorphologic features like perineural invasion, glomerulations, and intraluminal blue mucin were also studied. AMACR was a highly sensitive marker for detecting prostatic adenocarcinoma, while ERG was highly specific.

Clinicopathologic profile of gastroenteropancreatic neuroendocrine neoplasms in a referral center of South India.

BACKGROUND: The neuroendocrine system of the gastroenteropancreatic (GEP) region gives rise to unique, heterogeneous malignancies that need a high index of suspicion to make a diagnosis owing to their indolent course. AIMS: The present study aimed to find the incidence and the differences in the morphologic and immunohistochemical profile of gastroenteropancreatic neuroendocrine tumors (GEPNET) in a referral center of South India, JIPMER, Puducherry, India. METHODS: There were 55 gastroenteropancreatic region neuroendocrine neoplasms (NEN) assessed for demographic, clinical and radiological features. Gross morphological features, histopathological features, mitotic index, Ki67 proliferation index, and immunohistochemical positivity for synaptophysin, chromogranin-A, CD-56, NSE (Neuron Specific Enolase) and pan-cytokeratin (Pan-CK) were also assessed. RESULTS: The majority were nonfunctional tumors presenting with abdominal pain, gastrointestinal bleed, vomiting, jaundice, and loss of weight and appetite. The sites of involvement according to the order of frequency were duodenum, stomach, rectum, pancreas, ileum, appendix and jejunum. The endoscopic appearance of duodenal and jejunal tumors showed polypoidal, nodular and ulceroproliferative growth. These tumors were diagnosed by preoperative biopsy; 54% of them were grade-1 neuroendocrine tumors exhibiting nesting, trabecular, cord, and solid sheet patterns. All 55 cases were synaptophysin-positive with variable positivity for chromogranin, neuron-specific enolase, CD56, and Pan-CK. Mixed adenoneuroendocrine carcinomas (MANECs) involving the duodenum and stomach comprised 7.3% of all GEPNETs. Pancreatic neuroendocrine tumors constituted 9% of all tumors; one was multifocal. Lymph node metastasis was seen in 12/55 tumors; 6/12 showed liver metastasis also. All metastasizing tumors measured less than 4 cm in size. Statistical correlation of the tumor grade, mitotic count and Ki67 index as analysed by Spearman's correlation between the paired data denoted by rs in 55 tumors showed a strong correlation between mitotic count and Ki67 index; a moderate correlation was noted between the tumor grade and Ki67 index. CONCLUSION: The clinicopathologic profile of 55 GEPNET revealed a majority to be sporadic Grade 1 tumor. Tumors that showed lymph node and liver metastasis were less than 4 cm in size. MANECs were found in the duodenum and stomach.

Naso-Bronchial Rhinosporidiosis.

Rhinosporidiosis is a chronic mucocutaneous granulomatous disease caused by Rhinosporidium seeberi, commonly affecting the nose and nasopharynx. Endobronchial involvement is of rare occurrence but can pose challenging problems for diagnosis, surgical excision and anaesthetic management. We report a 40-year-old man with a history of recurrent nasal rhinosporidiosis who presented with unilateral nasal obstruction, cough, shortness of breath and a radiological feature of left lung collapse. Eight years since the last surgery, he presented with a recurrent lesion in the nose with concurrent endobronchial involvement. The patient underwent excision of the nasal and the endobronchial lesion successfully under general anaesthesia without any complication and good symptomatic improvement. The clinical presentation and the management of endobronchial rhinosporidiosis are discussed here. The surgical difficulties faced during the procedure are highlighted.

Neuroectodermal tumours of the sino-nasal tract: a clinicopathological study of 18 cases with a newly proposed revised classification and a brief review of literature.

AIM: Sino-nasal tract tumours constitute 3% of the head and neck malignancies. Among these tumours, neuroectodermal tumours are rare with histo-morphological and immunohistochemical overlap making them a challenge for the pathologist. We included Ewing's/PNET, olfactory neuroblastoma (OFN), mucosal malignant melanomas (MMM), Melanotic neuroectodermal tumour of infancy (MNTI), small-cell neuroendocrine carcinoma (SNEC), and the newest entity Adamantinoma like Ewing's sarcoma (ALES) as part of the neuroectodermally derived tumours of the sino-nasal tract. The last three entities were added to the existing ones, which also has been emphasized in this paper. METHODS AND RESULTS: A comprehensive analysis was done on all neuroectodermally derived tumours from 2016 to 2020. A total of 18 cases were collected, which included OFN (10 cases), SNEC (2 cases), MMM (2 cases), Ewing's/PNET (2 cases), MNTI (1 case), and ALES (1 case). The most common presentation in NE tumours was nasal obstruction (80-100%). Except for OFN, all other tumours were confined to the nasal and paranasal sinuses. 4/10 cases of OFN showed orbital extension. Cervical lymph-node metastasis was seen in 50% of cases of SNEC and MMM groups. An array of relevant immune-histochemical markers were performed. The marker expression was very subtle among the groups. On follow-up, recurrence was seen in the OFN and MMM groups in 30 and 50%, respectively. Metastasis was seen in SNEC group (100%) and OFN group (10%). CONCLUSION: As sino-nasal neuroectodermal tumours pose a diagnostic challenge and have different therapies and are prognostically different, the pathologist must be aware of the subtle morphological, immunohistochemical clues which have been dealt with in-depth in this study.

Malignant phyllodes tumor with liposarcomatous differentiation: Diagnosed on cytology.

Phyllodes tumor (PT) accounts for less than 1% of all primary tumors of the breast and 2% to 3% of all fibroepithelial lesions. We report a case of heterologous liposarcomatous elements in a malignant PT of the breast on Fine needle aspiration cytology (FNAC) and later confirmed by histopathological examination. A 58-years-old woman presented with a huge breast mass for which FNAC was done. Cytology showed features of malignant PT with a good representation of heterologous liposarcomatous areas. The cytological findings were in concordance with the histologic features. Malignant PT and its various heterologous elements of stroma can be diagnosed on FNA cytology when performed optimally. They can be vital for the preoperative assessment of patients suspected with malignancy to formulate the surgical plan accordingly.

Embryonal rhabdomyosarcoma of breast, pleura, and retroperitoneum diagnosed from pleural fluid cytology.

Embryonal rhabdomyosarcoma (ERMS) is a malignant small blue round cell tumor which is commonly seen in head and neck region. Breast and pleural involvement are uncommon. Rhabdomyosarcoma has been rarely reported in the body fluids like ascitic, pleural, and cerebrospinal fluid. In this article, we report an interesting case of ERMS which had deceptive small blue round cells in pleural fluid. The cytomorphological features along with a panel of immunocytochemical markers helped in arriving at the definite diagnosis. Later, biopsy from the breast lump and retroperitoneal mass also revealed the same tumor. This case is reported since it is rare to find sarcoma cells in pleural fluid and highlight the diagnostic difficulties faced during interpretation.

Cutaneous metastasis in a case of Wilm's tumor diagnosed on cytology - A rare case report.

A 12-year-old male child presented with complaints of a slow growing swelling in the right parasternal region noticed since one month. On examination, the lump was 2 × 2 cm firm, mobile nontender located in the subcutaneous plane which was also confirmed radiologically. Fine needle aspiration cytology was attempted showed small to medium sized monotonous round cell morphology, nuclear molding and mitotic figures were frequent. Few cells exhibiting rosettoid arrangement. No definite epithelial or mesenchymal component was evident. No glio-fibrillary matrix or lymphoglandular bodies were evident in the smears. Based on morphology, a small round cell tumor was considered with possibilities of Wilm's tumor and Ewing's family of tumor. Based on morphological differentials ICC was requested, tumor cells were positive for strong nuclear WT1 staining while CK and FLI1 were negative. The cytomorphology along with the ICC confirmed the diagnosis of metastatic wilm's tumor. Seven years back, patient had a history of nephrectomy, which on histopathology was reported as triphasic Wilms tumor with favorable histology. Generally Wilm's tumor recurs within 2 years of diagnosis. Late recurrence in Wilm's tumor is rare with only a handful of case reports. Common sites for metastasis include lung, liver, contralateral kidney. Cutaneous metastasis is very uncommon, early detection of which with helps in therapeutic and prognostic decisions. The interesting aspect of this article is cytological detection of cutaneous metastasis of late recurrence Wilm's tumor, which is extremely rare to occur.

The utility of fine needle aspiration cytology in orbital haematolymphoid neoplasms.

BACKGROUND: Orbital hematolymphoid lesions are rare and usually encountered in elderly patients. Orbital lesions are not easy to biopsy: hence fine needle aspiration cytology (FNAC) can be a very good diagnostic modality for these lesions. MATERIALS AND METHODS: Cases of orbital masses subjected to FNAC dating from 2013 to 2020 were retrieved from our archives. A total of 16 cases with biopsy confirmation were included. All clinical details, the type of procedure, details of the immunocytochemistry (ICC) performed on smear, follow-up biopsy, and their haematological work-up were analysed in detail. RESULTS: Sixteen biopsy-confirmed cases had been diagnosed as orbital haematolymphoid lesions on cytomorphology and further categorised with ancillary studies including ICC. In twelve instances, the cytology impression was congruent with the histopathological diagnosis and eight of the sixteen cases (50%) proved to be primary orbital lymphoma. Four were secondary orbital lymphomas and the remaining four included one case each of plasmacytoma, myeloid sarcoma, Rosai-Dorfman disease and angiolymphoid hyperplasia with eosinophilia. CONCLUSION: FNAC is a minimally invasive procedure for diagnosing most of the haematolymphoid orbital lesions and it has a rapid turnaround time. The accuracy of cytomorphology combined with ICC on smears/cell blocks can be as good as a biopsy for exact categorisation. Additionally, aspirate smears are preferred samples for cytogenetics compared to formalin-fixed tissue blocks, as molecular cytogenetics techniques are frequently employed for diagnostic, prognostic, and therapeutic purposes.

Descriptive study of the histopathological subtypes and programmed death-ligand 1 in metaplastic breast carcinoma.

Metaplastic Breast Carcinoma (MBC) is a rare heterogeneous group of tumors, the incidence of which is less than 1% of breast tumors. These are a unique set of tumors with varying subtypes, poor prognosis, and an increased chance of distant metastasis. We aimed to study the clinical, histomorphological, and immunohistochemical (IHC) features of Metaplastic Breast Carcinoma (MBC). This was a descriptive study of cases diagnosed as MBC at a tertiary care center in Southern India from January 2015 to December 2019. A total of 20 cases were diagnosed whose clinical, histomorphological, and IHC features were studied. PD-L1and CD8 IHC were performed and analyzed in 12 cases. The median age of presentation was 50 years. Seventy percent (14/20) patients were postmenopausal women. On excision, 75% (15/20) showed mixed typed MBC, the remainder showing epithelial type MBC. Metastasis to axillary lymph node was seen only in 20% (4/20) of the cases. Thirty percent (6/20) of the cases belonged to stage 3 disease and 5% (1/20) of the cases belonged to stage 4 disease with liver metastasis. Estrogen receptor (ER), Progesterone receptor (PR) were negative in all the cases, Her2neu was positive in three cases. Ki67 labeling index was greater than 14% in all the cases. PD-L1was positive in 41.5% of the cases and intratumoral CD8 positive lymphocytes were increased in 83.3% of the cases. MBCs are tumors occurring in elderly postmenopausal women, presenting with large tumor size, have lesser chances of lymph node metastasis, and a higher chance of recurrence and hematogenous spread. They are negative for ER, PR, Her-2 neu, with a high Ki67 index and a strong PDL-1 expression.

Intraparotid metastasis from lung adenocarcinoma diagnosed by FNAC-Report of a rare case.

Metastasis to the parotid gland accounts for 10%-16% of parotid malignancies. Head and neck malignancies constitute the major bulk of metastatic lesions to the parotid. The other common primaries include the breast, kidney, lung, and prostate. Metastasis from the lung to the parotid is a relatively rare occurrence whose exact percentage is not known. Though intralymphatic spread into the parotid is known, intraparenchymal spread through hematogenous route is rare. The presence of intraparenchymal spread of lung Adenocarcinoma to the contralateral parotid diagnosed on fine needle aspiration (FNA) makes it a case worth reporting, highlighting the utility of cell block preparation and immunohistochemistry for a precise and early diagnosis.

Cyto-morphological and clinical approach to infections presenting with discharging sinuses mimicking malignancy.

INTRODUCTION: Discharging sinuses is a form of chronic unhealed infection that can present at any site due to a variety of infectious organisms. These discharging sinuses may be associated with mass lesions and lymphadenopathy to mimic some neoplastic processes. Identifying these infections with accuracy and promptness is essential, as the treatment regimens are specific. Fine-needle aspiration (FNA) of these lesions, along with appropriate cytochemical stains, aids in the rapid and precise diagnosis of these infections and excludes neoplasms at these sites. Also, material for culture and other studies can be obtained by FNA. MATERIAL AND METHODS: This retrospective study was conducted in the Department of pathology from 2018 to 2020. A total of 179 patients with similar clinical presentation and confirmed infection on cytology were identified. On the evaluation of the requisition forms, 32 (18%) patients were identified with discharging sinus associated along with swelling. RESULTS: The five infections (32 cases) that were identified, included 18 cases of tuberculosis (56.25%) followed by 9 cases of actinomycosis (28.12%), 3 cases of pheohypomycosis (9.37%), and one case each of Nocardia (3.12%) and eumycetoma (3.12%) which presented as swelling with discharging sinus. Special stains were performed in all cases for confirmation. Histopathological/Microbiological correlation was done whenever available. CONCLUSION: Infections presenting as swelling with discharging sinuses mimicking malignancy can be diagnosed on FNAC with good accuracy.