Analysis of clinicopathological and immunohistochemical parameters and correlation of outcomes in gastrointestinal stromal tumors.

INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. We analyzed the clinicopathological features, resectability, immunohistochemical markers, and various factors predictive of disease recurrence and survival. MATERIALS AND METHODS: Retrospective analysis of prospectively maintained database of GIST patients managed from 2005 to 2016 was done. Size, site, malignant potential, nuclear pleomorphism, histopathological variety, immunohistochemical markers, type of surgery, and adjuvant imatinib therapy were analyzed. RESULTS: Ninety-two patients with GIST were analyzed. Immunohistochemistry showed positivity for c-kit (82.4%), DOG1 (75%), and PDGFR-α (79%). Among 16 patients with c-kit-negative tumors, 10 patients were positive for DOG1, PDGFR-α, or both. The most common primary site was stomach (44, 47.8%) followed by small bowel (17, 18.5%) and duodenum (14, 15.2%). Of 92 patients, 80 (87%) underwent R0 resection with organ sparing resection in 56 (70%) patients. Seventeen (21.3%) patients showed recurrence at a median follow-up of 6 years. Median and 5-year overall survival (OS) was 36 months (12-120) and 75%, respectively, and 5-year RFS was 81.8%. On univariate analysis, size, mitotic activity, malignant potential, and nuclear pleomorphism were predictors of recurrence. However, on multivariate analysis, only nuclear pleomorphism was significant. CONCLUSIONS: GISTs had a wide spectrum of presentation, and immunohistopathological features with organ sparing resection were conceivable in maximum. Nuclear pleomorphism may be considered as an important variable to predict recurrence in addition to malignant potential of tumors.

Giant Anterior Neck Lipoma with Bleeding Pressure Ulcer in an Elderly Man: A Rare Entity.

Giant lipomas are benign soft tissue tumors found rarely in the neck and are still rarer in the anterior part of the neck. A 70-year-old male patient was presented with a huge swelling measuring 35 cm in maximum dimension, in the front of the neck, reaching up till the umbilicus. The swelling was painless, slow growing and acquired the huge size in approximately 20 years. Ultrasound and CT scan findings were suggestive of a soft tissue lesion. Fine needle aspiration cytology yielded mature adipose tissue fragments. A complete surgical removal of the mass was done which on gross examination, measured 32 cms in longest diameter and weighed 2500 grams. Diagnosis of giant anterior neck lipoma with pressure ulcer was confirmed on histopathology. We described a case of excessively large lipoma of anterior neck, which is the largest anterior neck lipoma with pressure ulcer reported till date.

Correlations of portal pressure in post-cholecystectomy benign biliary stricture.

AIM: Presence of portal hypertension (PH) adversely affects perioperative and long-term outcome in patients with post-cholecystectomy benign biliary stricture (PCBBS). Identification of factors related to the development of PH will help to prevent this complication. METHODS: From September 2010 to December 2012, 30 patients with PCBBS were studied prospectively for correlation of portal pressure (PP) with injury repair interval (IRI), biliary pressure (BP), severity of hepatic fibrosis (FS), severity of hepatic inflammation (IS) and obstructive biliary pathology score (OBPS). Appropriate statistical methods employed and P ≤ 0.05 (two-sided) was considered statistically significant. RESULTS: Mean PP, mean BP and median IRI were 19.4 ± 4.74 mmHg, 20.1 ± 3.99 mmHg and 145 days, respectively. Spearman's rank correlation coefficients (P-value) of PP with IRI, FS, IS and OBPS were 0.564 (0.001), 0.502 (0.004), 0.752 (0.0001) and 0.242 (0.19), respectively. Pearson correlation of PP with BP was r = 0.383 (r(2) = 0.146, P = 0.03). Spearman's rank correlation coefficients (P-value) of FS with IS and OBPS were 0.561 (0.003) and 0.371 (0.04), respectively. Spearman's rank correlation coefficient of serum bilirubin with OBPS was 0.550 (P = 0.001). Incidence of PH was 33.3% and mean fall of PP following biliary repair was 6.2 ± 1.98 mmHg (P < 0.0001). CONCLUSION: PP in patients with PCBBS has a good correlation with IS, and a fair correlation with both FS and IRI whereas PP was not directly related to BP and OBPS; further prospective trials are mandatory to confirm this correlation, and to evaluate mechanism of fall in PP following biliary decompression.

Embryonal tumor with abundant neuropil and true rosettes with melanotic (retinal) differentiation.

Embryonal tumor with abundant neuropil and true rosettes (ETANTR) is a rare variant of central nervous system primitive neuroectodermal tumor occurring exclusively in the pediatric population. We report a unique case of a 6-month male child presenting with a large intraventricular lesion. Histological examination revealed a tumor composed of primitive neuroectodermal cells in dense aggregates, interspersed by hypocellular areas containing small round cells widely dispersed in neuropil-like material. Few ependymal and occasional ependymoblastic rosettes were appreciated. Focal melanotic neuroepithelium recapitulating retinal differentiation was also seen. Documentation of such cases may expand the neuroectodermal differentiation spectrum of ETANTR.

Role of intraoperative squash smear cytology as a diagnostic modality in lipoma of quadrigeminal cistern.

Quadrigeminal lipoma is a rare tumor that has been categorized as developmental malformation rather than a hamartoma or true neoplasm, due to its origin from abnormal persistence and mal-differentiation of meninx primitiva during the development of the subarachnoid cisterns. Reported admixture of adipose tissue with heterotopic elements also supports a developmental origin. Quadrigeminal lipomas are frequently asymptomatic and detected incidentally. Though a favorable clinical course is usually expected, recurrences may occur due to partial removal of lesions in close relation to vital structure. We describe the role of intraoperative squash smear cytology as a diagnostic aid in quadrigeminal cistern lipoma and an alternative to frozen sections that are technically difficult to obtain due to presence of lobules of fibro-adipose tissue. With radiological correlation, squash cytology can be an economical method for intraoperative diagnosis, pending subsequent histopathological confirmation.

Co-occurrence of cytomegalovirus-induced vanishing bile duct syndrome with papillary stenosis in HIV infection.

Jaundice in patients with AIDS can be a result of diverse conditions ranging from opportunistic infections to drug-related hepatotoxicity. With the advent of antiretroviral therapy (ART), the prevalence of AIDS cholangiopathy as a cause of jaundice has decreased; on the other hand, ART-related hepatotoxicity has become one of the commonest causes of jaundice in these patients. AIDS cholangiopathy is a rare condition of extrahepatic biliary obstruction in patients with advanced HIV infection, usually due to opportunistic infections. Vanishing bile duct syndrome (VBDS) is an acquired disorder characterized by progressive destruction and loss of interlobular bile ducts causing intrahepatic cholestasis. Herein, we report co-occurrence of fatal cytomegalovirus (CMV)-induced VBDS along with papillary stenosis, as a component of AIDS cholangiopathy, which to the best of our knowledge has not been documented earlier. This is perhaps the third case of VBDS in a patient with AIDS, and the second in association with CMV infection. VBDS in AIDS has a poor outcome, and liver transplantation may be considered only in a suitable candidate.

Medulloblastoma with focal divergent/teratoid differentiation.

Medulloblastomas with myogenic differentiation, previously termed medullomyoblastomas, form rare variants of medulloblastomas. Occasional tumors showing combined myogenic differentiation and melanotic tubular structures have also been described. On studying the records of a tertiary-care super specialty hospital, of 80 cases of medulloblastoma in a 5-year period, 36 showed nodular islands of neuronal, three myogenic, two glial, and one melanotic differentiation. Of the three cases of medulloblastomas with myogenic differentiation, we came across an extremely rare variant of medulloblastoma showing, in addition to the predominant primitive neuroectodermal component, a single minute nodular focus of 0.8 cm diameter, with divergent differentiation into mainly myogenic, epithelial, cartilaginous, and osseous lineages. Two ependymoblastic rosettes were also identified at different foci. In conclusion, a medulloblastoma with a small nodular island of divergent differentiation into various lineages has been seldom documented in literature. Microscopic foci of multilineage differentiation may be explained by the teratoid potential of medulloblastoma, or pluripotent nature of the neural crest cells, and requires extensive sampling for detection. It remains to be confirmed through more reports whether medulloblastomas with differentiation respond to a treatment protocol similar to that of medulloblastomas.

Gliosarcoma with osseous tissue: an occasional metaplastic component.

Glioosarcomas represent a rare entity of intrinsic CNS neoplasms consisting of glial and sarcomatous elements; they account for 2 % of glioblastomas. There have been few reports of metaplastic osseous transformation in gliosarcomas. Here we report a rare case of gliosarcoma with metaplastic osteoid in a 57-year-old male patient. Magnetic resonance imaging revealed a large solid cystic heterogeneous mass lesion in the left temporal lobe with peri-tumoral oedema and areas of calcification. Histology revealed a grade IV tumour with neoplastic glial and mesenchymal components with myxoid change and areas of necrosis. The sarcomatous areas contained regions of benign osteoid formation. The histogenesis of the osseous element in gliosarcomas is not well understood, and could be a result of a metaplastic change or divergent differentiation from a common progenitor cell. The osseous tissue may be in the form of newly formed osteoid, benign bone tissue formation with lacunae and osteoblastic rimming, or unequivocally malignant tissue resembling an osteosarcoma.

Sphenoid wing lymphoplasmacyte-rich meningioma with occasional emperipolesis closely simulating an intracranial Rosai-Dorfman disease: a diagnostic dilemma.

In lymphoplasmacyte-rich meningioma (LRM) meningothelial whorls are overshadowed by exuberant infiltration by lymphocytes, plasma cells and few histiocytes. Hence, lesions with lymphoplasmacytic proliferation form the histological differentials. We describe the, to the best of our knowledge, first case of LRM with occasiona emperipolesis, creating a diagnostic dilemma with Rosai-Dorfman disease (RDD), around the region of sphenoid wing. LRM was favored due to the presence of epithelial membrane antigen (EMA) and vimentin positive meningothelial whorls, forming approximately 10% of the tumor tissue. Documentation of such cases may help to understand the importance of inflammatory cells and meningothelial whorls, as a manifestation of host response at the leptomeninges.

Multicentric extranodal Rosai Dorfman disease--a cytological diagnosis, with histological corroboration.

BACKGROUND: Rosai Dorfman disease (RDD) typically presents with massive bilateral cervical lymphadenopathy, a viral-like prodrome, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Other lymph nodes may be less commonly involved. Extranodal RDD is quite rare, and orbital disease accounts for only 10% of the extranodal sites of involvement. Multicentric disease has also been described, which is usually accompanied by lymphadenopathy either initially or later in the disease course. CASE: We report an extremely rare extranodal multicentric disease in a diabetic patient, presenting with bilateral orbital involvement, causing ocular motility restriction, which was diagnosed on aspiration cytology of the orbital mass. This was followed in quick succession by new mass lesions in the lower back and infratemporal fossa. On extensive work-up, no lymphadenopathy was detected. The patient responded well to surgical debulking of the orbital lesions and systemic steroids. CONCLUSION: Fine needle aspiration cytology can be effectively applied for early diagnosis of multicentric extranodal RDD. Surgical debulking in such cases may be supplemented by systemic steroids.