Determination of target genes for classified molecular subtypes of triple-negative breast cancer form microarray gene expression profiling: An integrative in silico approach.

BACKGROUND: Highly heterogeneous triple-negative breast cancer (TNBC) has tough clinical features, which were gradually solving and improving in diagnosis by the molecular subtyping of TNBC. AIM: Presently, this study was focused on analyzing the genetic makeup of TNBC subtypes. SETTINGS AND DESIGN: This study explored the MicroArray expression profiling of differentially expressed genes in molecular subtypes BL1, BL2, IM, luminal androgen receptor, M, and mesenchymal stem-like of TNBC by analyzing the Gene Expression Omnibus dataset GSE167213. Various gene ontologies-based protein-protein interaction (PPI) networks were subtyped TNBC genes. The effect of genetic alteration on TNBC cases was also interpreted. MATERIALS AND METHODS: The MicroArray gene expression profiling was done through R programming and subjected to functional annotation through the database for annotation, visualization, and integrated discovery. The PPI networking of functionally associated genes was interpreted by STRING. The survival analysis was done through cBioPortal. STATISTICAL ANALYSIS USED: The t-test was used through R programming to generate the P values for a test of the significance of expressed genes. RESULTS: A total of 54,613 significant probes were analyzed in the TNBC MicroArray dataset. The functional PPI networks of BL1, BL2, and IM upregulated genes showed significant associations. The survival analysis of differentially expressed genes showed the significant prognostic effect of 32 upregulated genes of different subtypes on TNBC cases with genetic alterations, whereas the remaining genes showed no significant effects. CONCLUSION: The output of the present study provided significant target gene panels for different TNBC subtypes, which would add an informative genetic value to TNBC diagnosis.

Primary invasive squamous cell carcinoma of the nipple in an adult male: A case report and brief review of literature.

This is a case report of a rare and uncommon primary invasive squamous cell carcinoma (SCC) of the nipple in a male patient. The patient presented with an ulcerated growth over the left nipple for the last 20 years, which progressed over the last 6 months. He underwent wide local excision with level II axillary lymph node dissection, and one out of 42 lymph nodes harvested showed metastatic deposit. The patient was planned for follow-up with no adjuvant treatment, and had no evidence of local-regional or distant recurrence at 24 months follow-up. The primary invasive SCC of male nipple is very rare, and its diagnosis is challenging as it can be confused with other clinical conditions. However, a histopathological examination with immunohistochemistry can differentiate primary SCC nipple from other differential diagnoses. The treatment options for cutaneous SCC include surgical excision, cryotherapy, electrosurgery, topical ointments, definitive radiation therapy, and photodynamic therapy. Regional lymph node dissection in SCC nipple could potentially have therapeutic and prognostic significance.

The rhabdoid variant of adrenocortical carcinoma-Report of three cases and literature review.

Adrenocortical carcinoma (ACC) is a rare and aggressive malignancy. Extensive rhabdoid morphology in ACC has been described recently in very few cases. The proportion of rhabdoid morphology and the role of SMARCB1/ INI1 expression in these tumor cells to diagnose the specific variant is not described in the literature. We reviewed the clinicopathological features of nine cases of adrenocortical neoplasm. Out of which, three cases of ACC showed predominant rhabdoid morphology. Large discohesive cells with abundant cytoplasm containing eosinophilic inclusions, eccentric vesicular nucleus, and prominent nucleoli. INI1 immunostain was retained in all cases. We reported the rhabdoid variant of ACC, a novel entity, and its diagnostic approach from their histological mimickers. Identifying more cases of this entity will help to clearly understand the pathogenesis, biologic behaviour, and any specific molecular alterations in the future.

An unreported case of intraoperative frozen section diagnosis of a sclerosing stromal tumor of the ovary- A report with a review.

ABSTRACT: Sclerosing stromal tumor is a benign sex cord-stromal tumor, that commonly occurs in the second and third decades of age. Intraoperative diagnosis of this entity poses a great challenge because of the rare occurrence and can mimic malignant lesions. A 15-year-old female presented with a right ovarian mass. Serum markers were within normal limits. The radiological evaluation showed a large heterogeneously enhancing solid cystic abdominopelvic mass of size 16 × 14 × 9 cm with non-visualization of both ovaries separately and a few areas of calcification with mild ascites. An open cystectomy was performed. A part of the cyst wall was sent for an intraoperative frozen section. It was reported as sclerosing stromal tumor, and the post-operative specimen also confirmed the same. Areas of calcification and ossification were also identified as additional findings. We reported this case because of the uncommon occurrence, highlighting additional histological features, and also did a literature review, especially focussing on the intra-operative diagnosis.

Cytomorphological features of Mammary Analog secretory carcinoma of parotid gland: Report of 3 cases and review of literature.

Mammary analog secretory carcinoma (MASC) of salivary gland is a recently described entity. Due to its rarity and cytomorphological overlap with other salivary gland tumors, it is often difficult to recognize on cytology. Here we describe three such cases with their histopathological correlation. All the three tumors arose in the parotid gland. They were misdiagnosed as mucoepidermoid carcinoma, acinic cell carcinoma and salivary duct adenocarcinoma, respectively. Final diagnosis of MASC was established on their follow-up histopathology and immunochemistry evaluation. Cytosmears of these tumors showed high cellularity with papillary architecture lying within fluid background rich in foamy macrophages. Nuclear atypia varied from minimal to marked with frequent mitosis and presence of necrosis. Cytoplasmic vacuolation was a consistent finding. Although the cytomorphological features of MASC are not specific, a diagnosis of MASC should be strongly considered in the presence of papillary architecture, prominent cytoplasmic vacuolations of the tumor cells and a background of cyst fluid. Immunohistochemistry on cell block may be done to confirm the diagnosis.

Lateral Ventricle Atypical Teratoid/Rhabdoid Tumor (AT/RT): Case Report and Review of Literature.

A 4-year-old male child presented with features of raised intracranial pressure due to tumor in the left lateral ventricle with shunt blockage. Ventriculoperitoneal shunt was done earlier (one month ago). Craniotomy and gross total excision of the tumor was achieved. Histopathological examination was suggestive of Atypical Teratoid/Rhabdoid tumor. Patient relatives were not compliant with the advice for adjuvant therapy and patient expired after three months of definitive surgery due to aggressive course of the disease. To the best of our knowledge only six cases of AT/RT of the lateral ventricle in pediatric population has been described in literature. The tumor may mimic radiologically with benign pathology and can have an aggressive course with poor outcome. Differential diagnosis of AT/RT must be kept in cases of lateral ventricle tumor in pediatric population.

Diagnosis of the leukemic phase of ALK-positive anaplastic large cell lymphoma by immunohistochemistry on cell block prepared from peripheral blood buffy coat.

A leukemic phase of anaplastic lymphoma kinase positive anaplastic large cell lymphoma (ALK+ ALCL) is rare. The leukemic cells morphologically appear as small to intermediate-sized cells with cerebriform and cloverleaf-like nuclei and are misdiagnosed as other T-Cell lymphomas/leukemia with similar morphology. We describe a case where the diagnosis of leukemic ALK+ ALCL was aided by immunohistochemistry performed on the cell blocks prepared from the peripheral blood buffy coat specimen. The diagnosis of ALK+ ALCL was further confirmed on the biopsy of a cutaneous nodule of this patient. We found the method of immunohistochemistry on peripheral blood buffy coat cell block very useful and suggest that it may be used as an alternative method to flowcytometry in low resource settings.

A rare case of chondrosarcoma arising in parotid with extension to lateral skull base.

Chondrosarcomas of head and neck region are rare. Very few cases of chondrosarcomas arising in parotid gland have been reported and none with intracranial extension. We report a case of a female presenting with a parotid swelling and a mass in external auditory canal with extradural extension to posterior cranial fossa. With a preoperative fine needle aspiration diagnosis of pleomorphic adenoma, it was excised and the histopathology came out to be low-grade myxoid chondrosarcoma. She has not received any adjuvant chemoradiotherapy and there is no evidence of recurrence at months.

Exflagellation of Plasmodium vivax in peripheral blood: An uncommon finding and its significance.

Malaria continues to be a major public health problem. The life cycle of malaria is completed in two hosts Anopheles mosquito - definitive host and humans - the intermediate host. Exflagellation of microgametocyes in the life cycle of Plasmodium vivax occurs in mosquitoes and is rarely seen in human peripheral blood. Less than 15 occurrences of exflagellated microgametocyte of Plasmodium species have been reported to date. The appearance of exflagellated microgametes in human blood may pose a diagnostic dilemma due to its resemblance with other hemoparasites such as Borrelia and Trypanosoma.

Recurrent intracranial Rosai-Dorfman disease: Management of a challenging case.

Rosai-Dorfman disease (RDD) is a rare, idiopathic, benign histioproliferative disorder. Extranodal involvement is seen in around 25-40% of patients. Central nervous system manifestation of RDD is uncommon and suprasellar location of the lesion is a distinct rarity. Surgery is the cornerstone of management of intracranial RDD. However, tumor recurrence or regrowth is a potential problem. Hence, low dose conformal radiotherapy (RT) should be considered in patients undergoing sub-total resection or having unresectable recurrent disease. Though cranial RT usually leads to satisfactory improvement of symptoms and long-term disease stabilization or regression, in few patients there may be an eventual progression of disease for which systemic chemotherapy may be considered. We have highlighted the salient features of this enigmatic disease by citing a case of a 50-year-old male patient with suprasellar RDD treated by maximal safe surgery and deferred radiation therapy on progression.

Uterine Adenomatoid Tumors: A Study of Five Cases Including Three Cases of the Rare Leiomyoadenomatoid Variant.

OBJECTIVE: Adenomatoid tumor is a benign neoplasm of mesothelial origin encountered most often in the male and female genital tracts. This tumor has a distinct morphology and is characterized by anastomosing and variably sized tubules lined by epithelioid and flattened cells. Only 4 cases of the extremely rare leiomyoadenomatoid variant are on record. We report 5 cases of adenomatoid tumor including 3 cases of leiomyoadenomatoid tumor of the uterus, which is an extremely rare variant of adenomatoid tumor, difficult to recognize on morphology. METHOD: A detailed histopathological review of all the uterine tumor diagnosed as fibroid and adenomatoid tumor over the period of 4 years was done. RESULTS: A total of 5 cases of adenomatoid tumor were documented including 3 cases of leiomyoadenomatoid variant. CONCLUSION: Leiomyoadenomatoid variant of adenomatoid tumor often missed both on imaging and histopathological examination and hence needs to be recognized as a distinct morphological entity.

Spinal hemangiopericytoma: an institutional experience and review of literature.

PURPOSE: Hemangiopericytoma is a rare tumor of CNS with potential for recurrence and widespread metastasis, even outside CNS with even rare involvement of spinal cord. This case series presents five patients to evaluate the clinical presentation, radiological features, management, pathology and outcome of spinal hemangiopericytomas. METHODS: Between 2004 and 2013, five patients underwent surgery for spinal hemangiopericytoma. Histopathological data were reviewed in all cases and clinical and follow-up details were collected from the data available in our department. RESULTS: There were three males and two females, including one pediatric patient. Three patients had dorsal spine involvement and two patients had involvement of cervical spine. There were two patients with intradural extramedullary tumors, one patient each with pure intramedullary tumor, pure extradural tumor and both intra and extradural tumor. All of them presented with motor weakness. Gross total resection of the tumor was done in three patients. Four patients received post-operative radiotherapy. Histopathology showed anaplastic tumor in four cases with high MIB-1 LI. Most of them were positive for CD34, mic-2 and bcl-2. Three patients who underwent gross total resection improved significantly in the follow-up period. Two patients who underwent subtotal resection expired due to spread of their disease. CONCLUSION: Spinal hemangiopericytoma is a rare tumor. Strong clinical suspicion is required to diagnose it pre-operatively. Gross total resection is the goal and radiotherapy should be given in case of residual tumor or high-grade tumors.

Pelvic mature cystic teratoma with neuroendocrine carcinoma: report of a rare association and review of literature.

Extra-gonadal malignant transformation of teratoma is rare and there are only a few reports available citing malignancy arising in the non-germ cell components. We hereby report a case of a 35-year-old female, who presented with lower backache with a radiologically identifiable mass lesion in the pre-sacral region. Clinical and radiological findings suggested the possibility of a cystic teratoma. Histopathological examination and relevant immunohistochemical tests detected a mature cystic teratoma with features of a grade 2 neuroendocrine tumor in it. Like the index case, most of the previously reported cases of teratoma with malignant transformation of the somatic components were found in extra-gonadal site. This case is being reported to emphasize that any extra-gonadal mass in reproductive age group, even if it appears radiologically and per-operatively benign, must be subjected to histopathological examination to rule out possibility of malignant transformation of the germ cell or non-germ cell components.