Categorizing Malignant Small Round Cell Tumors in Aspiration Cytology: An Institutional Experience.

Aim and Objectives: The study aims to categorize malignant small round cell tumors (MSRCTs) originating in various sites of the body with the objective of utilization of cytomorphological features and ancillary techniques. Study Design: It is a cross-sectional study conducted over a time span of 3 years (2017-2020). 33 cases of tumors with round cell morphology were evaluated by fine needle aspiration cytology (FNAC). Materials and Methods: The application of cell block preparation supported by immunohistochemistry aided in the categorization of 23 cases with definite diagnosis and the rest were reported as MSRCTs. Results: Among the categorized 23/33 cases, the most common diagnosis was Ewing's sarcoma (7/23) followed by 6 cases of lymphoma. There were 2 cases each of rhabdomyosarcoma and Langerhans cell histiocytosis (LCH) and 1 case each of neuroblastoma, desmoplastic small round cell tumor (DSRCT), myeloid sarcoma, neuroendocrine tumor of pancreas, plasmacytoma, and small cell carcinoma. Histopathology confirmation was available in 24/33 cases. Among the categorized tumors (23/33), biopsy correlation was available in 19 cases, of which concordant result was seen in 17 cases (89.47%), which were 6 cases of lymphoma, 5 cases of Ewing's sarcoma (EWS), 2 of rhabdomyosarcoma, and 1 each of neuroblastoma, small cell carcinoma, DSRCT, and LCH. Discordant result was seen in one case of rhabdomyosarcoma and a case of synovial sarcoma reported as extraskeletal EWS in cytology. Out of the uncategorized cases reported as MSRTCs, histopathology was available in 5 cases which were diagnosed as rhabdomyosarcoma (1 cases), lymphoma (1 case), amelanotic melanoma (1 case), and extraskeletal EWS (2 cases). Conclusion: Categorization of MSRCTs should be done to implement appropriate therapeutic protocol. FNAC provides a rapid diagnosis contributing immensely for the timely management of the patient. Detailed cytomorphological evaluation serves as a guide for further evaluation by ancillary techniques leading to definitive diagnosis.

The Small Round Blue Cell Tumors of Sinonasal Tract: Pathologists Grey Zone.

Background: One of the most challenging diagnostic categories in the sinonasal tract includes small-blue-round-cell tumors. These are malignant tumors which show many overlapping histomorphology and immunohistochemistry (IHC) findings. Limited, small biopsy of these not completely excisable tumors adds to the diagnostic confusion. Materials and Methods: A cross-sectional study was done for 2 years (January 2018-December 2020) in a tertiary care institute, which included 70 cases of tumors of which 49 cases were malignant. All paraffin-embedded blocks were subjected to hematoxylin and eosin stain and IHC followed by molecular study wherever needed. Results: Of the total cases, small-blue-round-cell tumor constituted the major category comprising 20 rare and interesting cases which included sinonasal undifferentiated carcinoma (4 cases), malignant lymphoma (2 cases of diffuse large B-cell lymphoma and 2 cases of extranodal natural killer/T-cell lymphoma), rhabdomyosarcoma (2 cases), olfactory neuroblastoma (2 cases), malignant melanoma (2 cases), plasmacytoma (2 cases), atypical Ewing's sarcoma (EWS) (1 case), EWS (1 case), nuclear protein in testis (NUT) carcinoma (1 case), and small-cell neuroendocrine carcinoma (1 case). Conclusion: Tumors of the sinonasal tract are very diverse, more so in small-round-cell tumor which present with a undifferentiated morphology. Thus, accurate diagnosis needs clinicoradiological parameters and special ancillary techniques such as IHC and molecular study in addition to histopathology for early diagnosis and therapy to prevent significant morbidity and mortality caused in these tumors.

Syringoid eccrine carcinoma of the nipple in a male patient with lymph node metastasis: A case report.

ABSTRACT: Syringoid eccrine carcinoma of nipple is an extremely rare neoplasm of adnexal origin with variable clinical appearance and diverse histologic findings. Syringoid eccrine carcinoma (SEC) is often a diagnostic dilemma due to its morphology and presentation. Usually, these malignancies arise as non-ulcerated nodules or plaques in the head & neck region including the trunk. They are locally aggressive and have an infiltrative growth pattern with a propensity for metastasis. SEC is characterized by syringoma-like tadpole morphology with ductular differentiation and predominant desmoplasia. Immunostaining in SEC is variable and this variability is believed to arise from the tumor's ability to differentiate along multiple routes including sweat secretory and or ductal differentiation. Here we present a rare case of SEC/ syringomatous carcinoma of nipple in a 51-year-old male breast with associated axillary lymph node metastasis. As per English literature, this is the second case of SEC in nipple of male patient.

Breast mass - An uncommon clinical manifestation of ovarian carcinoma: A case report and brief literature review.

Metastasis from non-mammary malignant neoplasms to the breast is rare and represents 0.2%-1.3% of all breast malignancies. Fine needle aspiration cytology (FNAC) is the first line of investigation for any breast lump and cyto-morphological appearance of primary breast malignancies is well documented. Occasionally metastasis to the breast may be the initial presentation and can masquerade clinically as primary breast malignancy. The present case describes the clinical and cytological challenges in an unusual case of ovarian carcinoma with initial presentation as breast mass, mimicking as inflammatory carcinoma. In cytology the breast lesion was initially misdiagnosed as primary breast carcinoma and subsequently diagnosed as metastatic ovarian carcinoma based on core needle biopsy findings, aberrant immuno-profile and clinical findings; thus making the complex case worthy of discussion.

Unusual presentation of Langerhans cell sarcoma as bilateral submandibular gland swelling - A rare case report.

Langerhans cell sarcoma (LCS) is a rare malignant tumor of Langerhans cells and uncommonly involves head and neck regions. Unlike Langerhans cell histiocytosis (LCH), it has an aggressive clinical course with malignant cytological features. Till now, a handful of cases have been reported and the common anatomical sites involved are skin, lymph node, and bone in loco - regional cases and lymph node, lung, liver, spleen, and bone in disseminated disease. Due to its rarity, standard protocols of treatment for these patients are not yet well established. Herein, we report such a case in a 25-year-old male presenting with a bilateral submandibular swelling, which was diagnosed as LCH on Fine Needle Aspiration Cytology (FNAC) and later confirmed to be a case of LCS in histopathological examination and immunohistochemistry. The authors are aware of only a single similar case being reported in the English literature.

Eye: the door to undiagnosed chronic myeloid leukaemia.

Chronic myeloid leukaemia (CML) is a myeloproliferative neoplasm that can present in varied ways from incidental finding on haemogram to symptomatic presentation such as splenomegaly. We report an interesting case of a 22-year-old man who presented with loss of vision in right eye for 1 month. There were no pre-existing ocular or systemic diseases. On detailed ocular examination, a diagnosis of right eye rubeosis iridis, hyphaema, cataract and vitreous haemorrhage with left eye suspected leukaemic retinopathy was made. Routine haemogram revealed high leucocytosis. Systemic evaluation with investigations confirmed the diagnosis of CML and the patient was started on appropriate therapy.

Retained iron intraocular foreign body with late onset siderotic glaucoma: a clinical challenge.

Siderotic glaucoma is a rare and challenging clinical scenario caused by a retained iron intraocular foreign body (IOFB), which results in irreversible vision loss. Presented here is a case of secondary open-angle glaucoma in a 36-year-old man that was refractory to maximal medical therapy. A meticulous history and careful clinical examination revealed that he had a penetrating trauma 15 years ago, a self-sealed corneal entry wound, open angles, a retained encapsulated metallic IOFB and siderosis bulbi. Removal of the foreign body not only controlled intraocular pressure, but also improved vision.

Glaucoma Mimickers: A major review of causes, diagnostic evaluation, and recommendations.

Background: Glaucoma is characterized by chronic progressive optic neuropathy with corresponding visual field changes, with or without raised intraocular pressure (IOP). When diagnosing glaucoma or monitoring its progression, the examiner has to rely on the appearance of the optic disc, characteristic retinal nerve fiber layer defects, and corresponding visual field defects. However, similar changes and symptoms may be observed in several other disorders of the optic nerve and retina that may mimic glaucoma, often leading to misdiagnosis. Methods and result: The consequences of misdiagnosis not only result in improper treatment that may impact vision but also would negatively affect the overall health, psychological well-being of the patient, and may have considerable economic implications.Conclusion: The current review describes various conditions that mimic glaucoma and the features that help differentiate these conditions from glaucoma.

Histopathological and Immunohistochemical Evaluation of CDX2 and Ki67 in Colorectal Lesions with their Expression Pattern in Different Histologic Variants, Grade, and Stage of Colorectal Carcinomas.

BACKGROUND: A variety of colorectal lesions are surgically treated encompassing both benign and malignant polyps and colorectal cancer (CRC). CRC is the third most common cause of death in developed countries. Over the last decade, CDX2 has been linked to CRC progression, with reduced expression of the protein associated with more advanced tumor stage, vessel invasion, and metastasis. AIMS AND OBJECTIVES: To analyze the histopathology and immunohistochemistry (IHC) of CDX2 and Ki67 with their expression pattern; in different lesions of colon and rectum with special reference to various grade/stage/histological variants of CRC and to find out whether they can be used as possible predictive marker. MATERIALS AND METHODS: The study conducted was hospital based, both retrospective and perspective type comprising colorectal samples of total 367 cases (N) within a period of 2½ years. Surgical samples were collected, then grossed, processed, stained with routine hematoxylin and eosin stain in our department followed by IHC of CDX2 and Ki67 in only 60 randomly selected cases (n = 60). RESULTS: Out of total 367 cases, 265 cases were prospective study and 102 cases were retrospective study (240 cases were colonic lesions, and 127 are rectal lesions). The samples included were both from colonoscopy biopsy (small) 319 cases and 48 colectomy specimen (large). Mean age of the study participants was 49.62 years with a standard deviation of 17.34 years and predominantly male, but the difference was not statistically significant (P > 0.05). Colon (238 cases, 64.9%) as a whole affected more than rectum and left sided tumors more than the right side. All 60 cases were found to be positive for CDX2 expression (i.e., 100%); majority (n = 38) being carcinoma cases possessing high score and was statistically significant (P = 0.008, using Chi-square test) indicating strong association, whereas Ki-67 showed an increased index from noneoplastic to neoplastic cases. CONCLUSION: These markers can be used as future predictive biomarkers which will precisely evaluate risk group, prognosis, and response to therapy hence can be used as target therapy reducing irrational treatment.

Malignant Melanoma: A Double Malignancy or Second Malignant Neoplasm in a Patient of Acute Lymphoblastic Leukemia Following Therapy with a Composite Karyotype.

Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy of lymphoid origin seen with a peak incidence between 2 and 5 years. New drug regimen has increased the cure rate, although the risk of developing a second malignancy still persists. The common second malignant neoplasms in survivors of childhood ALL are hematolymphoid malignancies, central nervous system tumors, carcinomas, sarcomas, and bone tumors with a median latency of at least 10 years. There are also examples of nonmelanotic skin tumors such as basal cell carcinoma following ALL chemotherapy, but malignant melanoma is an extremely uncommon malignancy encountered. Melanoma is associated with genetic mutations such as CDKN2A, and CDK4 with an increased prevalence of second malignancy such as the lung, pancreas, and breast. However, double malignancy of melanoma with ALL is rare. Here, we report a rare case of malignant melanoma following ALL therapy associated with composite karyotype and early relapse.

An Atypical Presentation of Pancreatic Pseudocyst Masquerading as Solid Pseudopapillary Neoplasm of Pancreas.

Pancreatic pseudocysts are the most common cystic lesions of the pancreas, and often present as a consequence of acute or chronic pancreatitis. On the other hand, cystic neoplasms of the pancreas are rare, but pose a significant diagnostic challenge. The differentiation between these entities often relies on the clinical features and characteristic radiological evidence. However, the diagnostic dilemma persists, leading to misdiagnosis and inappropriate treatment. We present a case of pancreatic pseudocyst in a 49-year-old male, which clinically and radiologically mimicked solid pseudopapillary neoplasm, a rare type of cystic neoplasm of the pancreas.

Primary gastric Hodgkin's lymphoma: A rare coincidence.

Mostly primary gastric lymphomas are of the non-Hodgkin variety. Primary Hodgkin lymphoma (HL) of the stomach is an unusual entity that may be a big challenge in diagnosis. We reporter are case presenting as gastric outlet obstruction, which was later diagnosed as primary Hodgkin's Lymphoma of the stomach. Its rare coincidence makes it worth to be reported to sensitize clinicians as well as pathologists for the uncommon extra nodal site of Hodgkin's Lymphoma.

Intracranial Solitary Fibrous Tumor/Hemangiopericytoma: A Clinicoradiological Poorly Recognized Entity- An Institutional Experience.

AIM: Intracranial solitary fibrous tumors (SFTs) and hemangiopericytomas (HPCs) are rare nonmeningothelial mesenchymal tumors sharing fusion of NGF1-A binding protein 2 (NAB2) and signal transducers and activators of transcription (STAT6.).The WHO classification of central nervous system (CNS) tumors (2016) highlights that molecular confirmation of NAB2/STAT6 fusion or immunohistochemical nuclear expression of STAT6 is mandatory for the diagnosis of SFT/HPC.Herein, we present a series of four cases of SFT/HPC of the brain, which mimicked other CNS tumors both clinically and radiologically. MATERIAL AND METHODS: This is a retrospective study over a period of two and a half years. Out of the 156 operated cases of brain tumors, four patients (2.56%) were diagnosed with SFT/HPC. The clinicoradiological details with the surgical procedure were retrieved from the archived hospital records. RESULTS: All cases were males, of which three were in their 5th decade while one was a 14-month-old baby. Two cases were primary and the rest were recurrent.The location of tumors was extra-axial left cerebellotentorial,clivaldural-based,left cerebellar, and in the left frontoparietal region,respectively. The clinical impression was meningioma in three cases,while it was primitive neuroectodermal tumor (PNET) /atypical teratoid/rhabdoid tumor (ATRT) in one case.With the detailed histomorphology and immunohistochemistry, the final diagnosis was anaplastic hemangiopericytoma(WHO grade III) for all the cases. During our follow-up, one patient died with the disease, while the rest are doing well. CONCLUSION: SFT/HPC should be kept in the differential diagnosis of all dura-based hypervascular masses, especially in recurrent cases, due to its aggressiveness and high recurrence rate.

Lymphatic filariasis presenting as a soft tissue swelling in midarm: A histopathological diagnosis at unusual site.

Filariasis is a major social health problem in tropical countries like India. Wuchereria bancrofti accounts for 95% cases of lymphatic filariasis. The adult worm resides in the lymphatics and lymph nodes and causes little inflammatory response as long as it is alive, but granulomatous reaction is noted once the death of parasite occurs. In the present case, spectrum of inflammatory response is noted to the adult and larval form, which forms a soft tissue mass, masquerading as a soft tissue tumor clinically.

Primary pulmonary synovial sarcoma: A reappraisal.

Synovial sarcoma (SS) is a malignant mesenchymal tumor with variable epithelial differentiation that affects mostly young adults and can arise at any anatomic site. Primary intrathoracic SS is very rare accounting for <0.5% of all lung tumors. Most commonly, it arises from the lung followed by pleura and mediastinum. Primary pulmonary SS (PPSS) affects both sexes equally with no preference for any hemithorax. The morphology, immunostaining properties, cytogenetic features, and management strategy of PPSS are similar to that of soft tissue SS. Histologically, there are two main types of SS - monophasic and biphasic with a feature of poor differentiation seen in both types. Most patients present with large intrathoracic masses with or without ipsilateral pleural effusion. Bone invasion or mediastinal adenopathy is very rare. SS is characterized by a specific chromosomal translocation producing SS18-SSX fusion gene in more than 90% of cases. Identification of this fusion gene remains the gold standard for the diagnosis in the presence of consistent histology and immunophenotype. Multimodality treatment including wide excision, chemotherapy, and radiotherapy is the mainstay of therapy. SS is relatively chemosensitive, and ifosfamide-based regimen showed improved survival in metastatic disease. Generally, SS is considered as high-grade tumors with a poor prognosis. Novel therapies targeted at fusion oncogene, SS18-SSX-derived peptide vaccine, epidermal growth factor receptor, and vascular endothelial growth factor are the future hope in SS. We describe a prototype case and present an elaborate review on primary SS of lung.

Malignant phyllodes tumor with heterologous differentiation: Clinicopathological spectrum of nine cases in a tertiary care institute in Eastern India.

Phyllodes tumors are uncommon fibroepithelial neoplasms of breast. Heterologous sarcomatous differentiation of malignant phyllodes tumor (MPT) is a rare phenomenon as shown in the literature. Herein we report a series of nine cases from a tertiary care centre in Eastern India. Patients demographic data and clinical details were obtained from the medical records. Histopathology and immunohistochemical studies were analysed and diagnosed accordingly. Out of 38 cases of PT, 13 were found to be MPT, of which 9 cases showed heterologous differentiation in the form of angiosarcoma, fibrosarcoma, undifferentiated sarcoma, extensive squamous differentiation and with lipomatous metaplasia. Proper diagnosis and subtyping of the sarcomatous component is essential for deciding the correct treatment modality and prognostication of the disease. However there is no clear cut treatment protocol is available because of paucity of data.

Multicentric papillary and chromophobe renal cell carcinomas in a patient with autosomal dominant polycystic kidney disease: Report of a rare case.

The causal relationship of autosomal dominant polycystic kidney disease (ADPKD) with the development of renal cell carcinoma (RCC) is still not known. We describe a case of bilateral PKD complicated with a large enhancing mass and multiple small nodules in the left kidney. The histopathological study of the nephrectomy specimen revealed the synchronous occurrence of eosinophilic variant of chromophobe RCC (EVCRCC) and multicentric papillary RCC (PRCC) in a background of ADPKD. To the best of our knowledge, this case is the first to describe the collision tumor of EVCRCC and multicentric PRCC in ADPKD.

Cellular Fibroma of Ovary Coexisting with Proliferative Endometrium Post Menopause: A Rare Presentation.

Ovarian fibromas are benign sex cord stromal tumours occurring in peri-menopausal and post-menopausal women. These tumours are composed of spindle fibroblastic cells producing collagen. They are almost always endocrine-inert and are rarely associated with hormone production. We report herein a case of a 60-year-old Indian woman presenting as post-menopausal bleeding. Imaging studies and endometrial biopsy revealed a right ovarian solid tumour coexisting with thickened proliferative endometrium, other causes of hyperoestrogenism being excluded in the woman. She underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy. Histopathology showed cellular fibroma of right ovary and proliferative endometrium with foci of hyperplasia without atypia.

Invasive Cystic Hypersecretory Carcinoma of Breast: A Rare and Under Diagnosed Variant of Ductal Carcinoma.

Handful cases of invasive Cystic Hypersecretory Ductal Carcinoma (CHC) have been reported so far in literature. Cystic hypersecretory lesions of breast have a spectrum of morphological features ranging from Cystic Hypersecretory Hyperplasia (CHH), CHH with atypia, in situ to invasive CHC. We are reporting a case of a 32-year-old female who had nipple discharge and lump in her right breast for one month. A modified radical mastectomy was done and morphological diagnosis of invasive CHC with axillary node metastasis was made. The postoperative events were uneventful. Invasive CHC being a rare entity, our understanding of its biological behavior, prognostic factors and genetic basis is limited. The authors are aware of only 15 similar cases being reported in the English literature.