molecular abnormality
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Author(s):  
Monica Sivakumar ◽  
Atoshi Basu

Background: This study aims to find out the expression of aberrant immunophenotypic markers in acute lymphoid leukemia (ALL) and to co-relate its expression with cytogenetic and molecular data.Methods: Retrospective cum prospective study was carried out in 75 patients of ALL who presented to Apollo Gleneagles hospitals, Kolkata from January 2014 and March 2019. Flow cytometry analysis was done using FC500 (Beckman coulter) All cases were classified according to latest WHO classification.Results: Out of 75 cases of ALL, 23 cases (30.67%) showed aberrant cross-lineage expression. Amongst the B-ALL cases, the most common aberrant antigen expressed were myeloid antigens 17 cases (77.27%). Aberrant T- antigens were noted in 4 cases (18.10%). Aberrant co-positivity of myeloid as well as T-antigens was seen in 1 case (4.54%). The most common aberrant myeloid antigen expressed was CD33 (77.7%) followed by CD13 (22.2%) and then CD15 (11.1%). Co-positivity of CD13 and CD33 was noted in 2 cases. CD2 and CD33 co-positivity was noted in 1 case. The most frequently expressed aberrant T-antigen was CD2 seen in 3 out of 5 cases (60%).Conclusions: In B-ALL, the most common aberration was myeloid antigen positivity followed by cross-lineage T-antigen expression. Aberrant CD33 expression was most frequently associated with t(9;22) followed by t(12;21).  Aberrant CD15 was most frequently associated with t(4;11).  No association with adverse hematological parameters or any significant increase in cytogenetic and molecular abnormality was noted in cases expressing aberrant antigen in comparison to cases not expressing aberrant antigens. 


2020 ◽  
Vol 28 (7) ◽  
pp. 787-792 ◽  
Author(s):  
Mingfei Yan ◽  
Hannah Gilmore ◽  
Aparna Harbhajanka

Mucoepidermoid carcinoma is one of the most common malignancies in salivary glands. In comparison, breast mucoepidermoid carcinoma is a very rare entity, with limited reports and understanding of its clinical behaviors to date. In this article, we report a case of low-grade breast mucoepidermoid carcinoma of a 60-year-old female patient. Histologic and immunohistochemical patterns were demonstrated. Fluorescence in situ hybridization test was also conducted to identify MAML2 rearrangement in this case, indicating a similar molecular abnormality as mucoepidermoid carcinoma in the salivary gland. Five-year follow-up of the patient showed no local recurrence or distant metastasis of the carcinoma, indicating the indolent behavior of low-grade breast mucoepidermoid carcinoma. Besides, a 40-year literature review from 1979 to 2019 was also performed to better characterize the prognosis and molecular abnormalities of the lesion.


2019 ◽  
Vol 18 (4) ◽  
pp. 17-24 ◽  
Author(s):  
D. L. Rotin ◽  
O. V. Paklina ◽  
I. O. Tin’kova ◽  
D. N. Grekov

Carcinoma of the stomach is wide spread malignancy with the poor prognosis. Recent investigations of the genome features let to consider this tumor as heterogeneous lesion, presenting different biological subtypes. Each of those subtypes has its own definitive characteristics including difference in prognosis. Microsatellite instability (MSI) – epigenetic molecular abnormality known in many tumors. The role of MSI in the carcinoma of stomach, prognostic as well predictive, is still not clear. High incidence (10 up to 22 %) of MSI in carcinoma of stomach requires performing more extensive studying of this malignancy. The present review is dedicated to recent data of the literature, concerning clinical, morphological, prognostic and predictive features of MSI in the carcinoma of stomach.


2018 ◽  
Vol 20 (suppl_6) ◽  
pp. vi280-vi280
Author(s):  
Yuxiang Wang ◽  
Jie Yang ◽  
Wei Wu ◽  
Rachna Shah ◽  
Carla Danussi ◽  
...  

2018 ◽  
Vol 20 (suppl_6) ◽  
pp. vi92-vi92
Author(s):  
Yuxiang Wang ◽  
Jie Yang ◽  
Carla Danussi ◽  
Gregory Riggins ◽  
Erik Sulman ◽  
...  

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