Vidya Monappa

Multiple neural fibrolipomas with macrodactyly

Neural fibrolipoma is an uncommon tumor-like lesion that involves the upper extremity and usually arises in the median nerve. It is associated with macrodactyly in one-third of the cases. A 3-year-old girl presented with increasing size of fingers of both the hands since birth. Clinical examination revealed macrodactyly of two fingers of the right hand and three fingers of the left. Surgical reduction was performed and microscopy of the biopsy specimen established the diagnosis of neural fibrolipoma. Knowledge of the clinicopathological features is necessary for accurate diagnosis and treatment of this rare entity.

Adrenal inflammatory myofibroblastic tumour.

A rare case of large adrenal mass which was non-functioning is presented. It is difficult to make preoperative diagnosis in these cases as the imaging findings are non-specific. Radical excision is mandatory as preoperative malignancy cannot be ruled out.

Phosphaturic mesenchymal tumour of the mandible – the useful criteria for a diagnosis on fine needle aspiration cytology

Oncogenic osteomalacia (OO) is a rare clinicopathological syndrome characterized by renal phosphate wasting, hypophosphataemia, normal serum calcium levels and decreased serum 1,25-dihydroxyvitamin D3 levels, which are induced by a neoplastic lesion. The clinical signs and symptoms disappear completely after resection of the tumour. Phosphaturic mesenchymal tumour (PMT) is a rare mesenchymal tumour that causes OO. Fine needle aspiration cytology (FNAC) of PMT has been documented only once before. Our case is the first at this site, as a bone tumour in the jaw with diverse differential diagnosis.

Cytomorphologic diversity of papillary thyroid carcinoma

Introduction: Cytologic features of papillary thyroid carcinoma (PTC) have been extensively documented in literature. However, PTC variants can prove to be diagnostically challenging on fine needle aspiration cytology (FNAC). Aims: To study the FNAC features of PTC and its variants and explore the causes for misdiagnosis. Materials and Methods: This is a retrospective study. All cases of histopathologically (HP) confirmed cases of PTC during a 2-year period (January 2012 to December 2013) with presurgical FNAC were included. The cytologic findings and FNAC diagnosis of each case were documented and compared with the HP report. The misdiagnosed cases were reviewed to look for any cytological clues and reasons for misdiagnosis. Results: A total of 58 cases were included. The overall diagnostic accuracy was 55.6% which improved to 64.8% on including suspicious for PTC cases. Follicular variant was the most misdiagnosed variant; 41.2% of the cases were called follicular neoplasm. Oncocytic variant showed cells with abundant eosinophilic cytoplasm along with bizarre giant cells. Warthin tumor-like variant showed cells with moderate eosinophilic cytoplasm with close apposition of lymphocytes in a background of reactive lymphocytes and lymphoid tangles. Cystic variant was paucicellular. Columnar cell variant showed tall columnar cells with nuclear stratification. Cribriform–morular variant showed syncytial sheets of cells and hyaline globules. Conclusions: PTC variants have distinct cytomorphological features. In some variants (follicular, columnar cell), nuclear grooves and inclusions may not be apparent, contributing to the diagnostic confusion. Benign nodule adjacent to the tumor can dominate the FNAC smear and lead to misdiagnosis.

Myeloid sarcoma: A clinicopathological study with emphasis on diagnostic difficulties

BACKGROUND Myeloid sarcoma (MS) is a rare tumor composed of proliferation of myeloid precursors at extramedullary sites. They can arise de-novo or in association with hematological malignancies, most commonly acute myeloid leukemia. Clinically, it can masquerade as an abscess, cutaneous ulcer, or mass lesion. Morphologically, MS can mimic a variety of small round cell tumors including lymphomas and rhabdomyosarcoma. AIMS (1) To study the clinical presentations and laboratory findings in patients with MS; (2) to revisit the histomorphological findings and the differential diagnosis of MS; (3) to evaluate the diagnostic role of immunohistochemistry (IHC) and determine the useful markers for accurate diagnosis of MS. MATERIALS AND METHODS We reviewed cases of MS reported in our institution over a 10-year period from January 2004 to December 2013. The clinical presentations, laboratory data, and histopathological and immunohistochemical findings were studied. RESULTS There were nine cases in our database, none of which were clinically suspected to be MS. Age ranged from 3 to 55 years, with a slight female preponderance. Cervical lymph nodes were the most common site involved. Histologically, the common finding was the presence of medium- to large-sized cells with fine granular chromatin, small nucleolus, and scant cytoplasm along with scattered eosinophil precursors. Myeloperoxidase was the most useful IHC marker. All cases were also positive for leukocyte common antigen contributing to the diagnostic confusion with lymphoma. CONCLUSION The possibility of MS should be considered when dealing with unusual lymphoma-like neoplasms that cannot be categorized as any of the Non-Hodgkin lymphoma subtypes.

Large Gastric Teratoma: A Rare Intra-abdominal Mass of Infancy.

Amongst the varied, diverse causes of intraabdominal masses in infancy and early childhood, gastric teratomas (GTs) account for a very small proportion. A worldwide literature search reveals only around one hundred cases of GT and also supports the fact that its preoperative diagnosis remains elusive. Here we report the case of a two-month-old male who presented to the pediatric surgery outpatient department of Kasturba Medical College and Hospital, Karnataka, India, with progressive distension of abdomen since birth. Clinically, a large firm, non-mobile and non-tender mass involving all four quadrants of the abdomen was seen. Ultrasound revealed a large solid-cystic mass with internal septations extending from the epigastrium up to the pelvis. Computed tomography revealed a large intraperitoneal fat containing solid-cystic mass lesion showing curvilinear and chunky areas of calcification, with the mass focally indenting the posterior gastric wall and showing focal polypoidal intragastric extension. Exploratory laparotomy revealed a large cystic tumor with a solid component, arising from lesser curvature of the stomach, showing focal intraluminal extension across the posterior gastric wall, and occupying the whole lesser sac and abdominal cavity. The tumor was excised in toto along with the body of the stomach. Histopathological examination showed mature tissue derived from all three germ cell layers and confirmed the diagnosis of mature gastric teratoma. The patient was disease free at one-year follow-up.

Juvenile Granulosa Cell Tumour: Anaplastic Variant with Omental Deposits.

Juvenile Granulosa Cell Tumour (JGCT) of ovary represents a small fraction of all primary ovarian malignancies. It is a subtype of granulosa cell tumour that is almost always found during the first three decades of life. Histologically, it differs from the typical adult type of granulosa cell tumour. It accounts for 5-15% of all granulosa cell tumours, majority being unilateral. Herein, we describe an unusual histopathological variant of JGCT with numerous large cystic spaces, anaplasia and focal syncytiotrophoblast like giant cells.

Testicular non-Hodgkin's lymphoma presenting in a young adult

We report a case of a 27-year-old man who presented with a slowly growing left testicular swelling associated with mild pain over a period of 3 months. He was evaluated by his family physician with scrotal ultrasound and testicular tumour markers. He was diagnosed and treated as epididymo-orchitis and managed with antibiotics. When he later presented to us, he had an enlarged left testis with normal spermatic cord. Scrotal Doppler evaluation showed a globally enlarged left testis and epididymis with increased vascularity in the left testis, with the right testis being normal. Testicular tumour markers were normal. Fine-needle aspiration cytology of the left testis was suggestive of lymphoma. Exploration through an inguinal approach was carried out and a Chevassu manoeuvre with frozen section study was performed, which was reported as non-Hodgkins lymphoma. Left radical orchidectomy was performed. Histopathology reported diffuse large B-cell lymphoma, of a germinal centre type. Contrast CT of the abdomen, chest and brain were normal. Sperm cryopreservation was carried out. The patient was started on chemotherapy with cyclophosphamide, hydroxydaunorubicin, oncovin, prednisone (CHOP) regime.

Hematolymphoid neoplasms in effusion cytology

Background: Hematolymphoid neoplasms (HLNs) presenting as body cavity effusions are not a common finding. They may be the first manifestation of the disease. A diagnosis on effusion cytology may provide an early breakthrough for effective clinical management. Aims: Study the cytomorphology of HLNs in effusion cytology, determine common types, sites involved and uncover useful cytomorphologic clues to subclassify them. Materials and Methods: Twenty-four biopsy-proven HLN cases with malignant body cavity effusions and 8 cases suspicious for HLN on cytology but negative on biopsy are included in this study. Effusion cytology smears were reviewed for cytomorphological features: cellularity, cell size, nuclear features, accompanying cells, karyorrhexis, and mitoses. Results: Diffuse large B-cell lymphoma (37%) was the most common lymphoma type presenting as effusion followed by peripheral T-cell lymphoma (25%). Pleural effusion (75%) was most frequent presentation followed by peritoneal effusion (20.8%). Pericardial effusion was rare (4.1%). The common cytologic features of HLNs in effusions: high cellularity, lymphoid looking cells with nuclear enlargement, dyscohesive nature, and accompanying small lymphocytes. Mitosis and karyorrhexis were higher in high-grade HLNs when compared to low-grade HLNs. Myelomatous effusion showed plasmacytoid cells. Very large, blastoid looking cells with folded nuclei, high N: C ratio, and prominent nucleoli were seen in leukemic effusion. Conclusion: HLNs have characteristic cytomorphology and an attempt to subclassify them should be made on effusion cytology. Reactive lymphocyte-rich effusions cannot be distinguished from low-grade lymphomas based on cytomorphology alone. Ancillary tests such as immunocytochemistry, flow cytometry, and/or molecular techniques may prove more useful in this regard.

Cystic sertoli-leydig cell tumour in a postmenopausal woman with absent virilising symptoms: A diagnostic challenge

A 60-year-old postmenopausal woman, presented with a left ovarian cystic mass with mildly elevated CA125 levels. An intraoperative frozen section showed oedematous ovarian stroma with interspersed large aggregates of spindle shaped stromal cells. Subsequently, the excised specimen was reported as Sertoli-Leydig Cell Tumour (SLCT) of intermediate differentiation. The leydig cells were identified in the imprint smears, but were misinterpreted as luteinized cells. The lack of tubular differentiated cells in frozen section had contributed to the misdiagnosis. Immunohistochemistry (IHC) played an important diagnostic role in the absence of clinical suspicion and lack of virilising features that are classically described in association with SLCTs. This case is unusual, as the tumour was seen in a postmenopausal woman in the absence of virilising symptoms. The cytomorphological features, IHC findings and the reasons for misdiagnosis are discussed in this case report.