The urgency of Burkitt lymphoma diagnosis in fluid cytology-A tertiary care experience.

BACKGROUND: Burkitt lymphoma (BL) is an aggressive high-grade B-cell non-Hodgkin lymphoma commonly diagnosed in young age and is known to involve extra nodal sites. But the involvement of body fluids by BL is an uncommon presentation. Rapid diagnosis of BL is vital to prevent complications like tumour lysis syndrome. Cytological examination of body fluids continues to be an indispensable tool for rapid diagnosis of BL. OBJECTIVES: In this study, we aim to study the clinical, cytomorphological and immunophenotypic characteristics of BL involving serous effusions and other fluids. MATERIALS AND METHODS: In this retrospective study, 17 cases reported as BL in fluid cytology from 2016 to 2022 were collected and reviewed. We performed a comprehensive analysis of the clinical data, cytomorphological features, immunophenotyping data along with the haematological workup of these cases. We have also compared with the histopathological diagnosis for those cases where biopsy was available. RESULTS: BL more commonly involved ascitic fluid (52%), followed by pleural fluid (4 cases) and cerebrospinal fluid (CSF; 4 cases). Primary diagnosis of BL in fluid was done in 88% of the cases. Bone marrow involvement was noted in two cases. Cytological smears showed discrete monomorphous population of medium-sized atypical lymphoid cells with frequent apoptotic bodies. Classic cytoplasmic punched out vacuoles were observed in 88% of the cases. Immunophenotyping data was available for 12 cases in which tumour cells showed positivity for CD20 (100%), CD10 (4 of 7 cases), BCL6 (3 of 5 cases) and cMYC (7 of 7 cases-100%) and were negative for Terminal deoxynucleotidyl transferase (TdT) (11 of 11 cases). Mean Ki67 labelling index was 95%. Histopathological diagnosis was available for 9 cases, and there was 100% agreement between cytological and histopathological diagnosis in 7 cases. CONCLUSION: Precise diagnosis of BL can be rendered in body fluids by identification of classic cytomorphological features and by performing supportive ancillary tests in fluids for immunophenotyping.

Evaluation of the International Society on Thrombosis & Haemostasis scoring system & its modifications in diagnosis of disseminated intravascular coagulation: A pilot study from southern India.

Background & objectives: Diagnosis of disseminated intravascular coagulation (DIC) rests primarily on the clinical profile along with supportive laboratory tests. The International Society on Thrombosis and Haemostasis (ISTH) had proposed a scoring system for the diagnosis of overt DIC. However, fibrinogen values which are supposed to be low are often found to be elevated due to the associated inflammation seen in some cases. Moreover, peripheral smear is known to show schistocytes, which is also not included in the score. This study was done to evaluate ISTH scoring system and its modifications in suspected DIC. Methods: Fifty-six patients were enrolled for the present study of whom; in four, fibrinogen assay could not be done. Modifications in the ISTH scoring with the exclusion of fibrinogen, i.e. modified ISTH (MI) score and subsequent inclusion of schistocytes, i.e. modified ISTH with schistocytes (MIS) score, were used. The modified scores were analyzed for diagnostic accuracy parameters and agreement with ISTH score. Results: Amongst 56 cases, 9/52 (17.3%), 22 (39.3%) and 17 (30.4%) were diagnosed as positive for overt DIC by ISTH, MI and MIS scores and mortality was 33, 22.7 and 17.6 per cent, respectively. The sensitivity, specificity, positive and negative predictive values for the MI score were 100, 74.4, 45 and 100 per cent and for MIS score were 100, 86, 60 and 100 per cent, respectively. The agreement between MI score and MIS score with ISTH score was moderate [κ=0.502, 95% confidence interval (CI): 0.272-0.732, P<0.001] and substantial (κ=0.681, 95% CI: 0.45-0.91, P<0.001). Interpretation & conclusions: In the present study, the calculated mortality was highest by ISTH score. Best agreement was between MIS score and ISTH score. In a resource-constrained setup where fibrinogen assay and therefore ISTH score is difficult, it is suggested that MIS score can be considered.

The utility of fine needle aspiration cytology in orbital haematolymphoid neoplasms.

BACKGROUND: Orbital hematolymphoid lesions are rare and usually encountered in elderly patients. Orbital lesions are not easy to biopsy: hence fine needle aspiration cytology (FNAC) can be a very good diagnostic modality for these lesions. MATERIALS AND METHODS: Cases of orbital masses subjected to FNAC dating from 2013 to 2020 were retrieved from our archives. A total of 16 cases with biopsy confirmation were included. All clinical details, the type of procedure, details of the immunocytochemistry (ICC) performed on smear, follow-up biopsy, and their haematological work-up were analysed in detail. RESULTS: Sixteen biopsy-confirmed cases had been diagnosed as orbital haematolymphoid lesions on cytomorphology and further categorised with ancillary studies including ICC. In twelve instances, the cytology impression was congruent with the histopathological diagnosis and eight of the sixteen cases (50%) proved to be primary orbital lymphoma. Four were secondary orbital lymphomas and the remaining four included one case each of plasmacytoma, myeloid sarcoma, Rosai-Dorfman disease and angiolymphoid hyperplasia with eosinophilia. CONCLUSION: FNAC is a minimally invasive procedure for diagnosing most of the haematolymphoid orbital lesions and it has a rapid turnaround time. The accuracy of cytomorphology combined with ICC on smears/cell blocks can be as good as a biopsy for exact categorisation. Additionally, aspirate smears are preferred samples for cytogenetics compared to formalin-fixed tissue blocks, as molecular cytogenetics techniques are frequently employed for diagnostic, prognostic, and therapeutic purposes.

Langerhans' Cell Histiocytosis Masquerading as Caroli's Disease.

Langerhans' cell histiocytosis is an uncommon disease in children with varied clinical presentation. Multisystem form of this disorder usually affects organs like the bones, skin, liver, spleen, lungs, and the central nervous system. We describe here the clinical details of a 2-year-old girl with involvement of unusual sites like the parotid glands and the nails. This child also had multiple cystic lesions in the liver leading to a misdiagnosis of Caroli's disease. Knowledge about the uncommon manifestations of this rare disorder helps in early diagnosis and treatment.

Diagnostic accuracy of point-of-care devices for detection of anemia in community settings in India.

BACKGROUND: Accurate diagnosis of anemia by community workers using a point-of-care device is a challenge. The objective of the study was to establish the diagnostic accuracy of point-of-care devices for detecting anemia in community settings. METHODS: It was diagnostic accuracy study with cross-sectional design on adult patients attending the outpatient department of rural/ urban health centres of Medical colleges from India. The index tests were HemoCue, TrueHb, Massimo's device and spectroscopic device, compared against autoanalyzer (gold standard). Accuracy was expressed by sensitivity, specificity, likelihood ratios, predictive values, area under the curve (AUC) and levels of agreement. For the diagnostic accuracy component, 1407 participants were recruited with a minimum of 600 for each device. An additional 200 participants were considered to elucidate the performance of devices in different weather conditions. RESULTS: HemoCue and TrueHb performed better than Massimo and spectroscopic devices. Detection of anemia by technicians was similar between TrueHb and HemoCue (AUC 0.92 v/s 0.90, p > 0.05). Community workers performed better with Hemocue for detecting anemia compared to TrueHb (AUC 0.92 v/s 0.90, p < 0.05). For detection of severe anemia, accuracy of TrueHb was significantly better with technicians (AUC 0.91 v/s 0.70; p < 0.05) and community workers (AUC 0.91 v/s 0.73; p < 0.05). HemoCue showed a bias or mean difference (95%CI) of 0.47 g/dl (0.42, 0.52) for all values, and 0.92 g/dl (0.82, 1.03) for severe anemia. For TrueHb, it was - 0.28 g/dl (- 0.37, - 0.20) for all readings, and 0.06 g/dl (- 0.52, 0.63) for severe anemia. TrueHb appeared to be more consistent across different weather conditions, although it overestimated Hb in extreme cold weather conditions. CONCLUSION: For detection of anemia, True Hb and HemoCue were comparable. For severe anemia, True Hb seemed to be a better and feasible point-of-care device for detecting anemia in the community settings.

Persistent eosinophilia in rheumatoid arthritis: a prospective observational study.

Eosinophilia is an uncommon manifestation in Rheumatoid arthritis (RA), and there is a paucity of data regarding the relationship of eosinophilia with disease-related factors. We prospectively evaluated the clinical and disease-specific characteristics of RA patients with eosinophilia. Consecutive patients with RA with an absolute eosinophil count ≥ 500/mm3 without an apparent cause for eosinophilia, were investigated for parasitic infestation. Patients with a definite parasitic infestation received targeted therapy, and the rest were treated with albendazole empirically. The RA disease-specific characteristics of the patients with persistent eosinophilia were compared with the patients without eosinophilia. Of the 160 patients with eosinophilia, 30 patients (19%) had allergic diseases, six patients had bronchiectasis, and one patient had hypereosinophilia of undetermined significance. Intestinal helminthiasis was found in 34 patients (21%). Eosinophilia was unexplained in 89 patients (56%) and it resolved after empirical albendazole therapy in about two-thirds (58 patients). Thirty-one patients had persistent eosinophilia. Nonsteroidal anti-inflammatory drug and disease-modifying antirheumatic drug modification did not show any effect on eosinophilia. The disease-related characteristics were similar between patients with persistent eosinophilia and those without eosinophilia. Eosinophilia is due to secondary causes in the majority of RA patients, and the most common cause in our setting is an intestinal helminthic infection. Persistent eosinophilia in our cohort of RA did not indicate a more severe disease phenotype.

Utility of p57 immunohistochemistry in differentiating between complete mole, partial mole & non-molar or hydropic abortus.

BACKGROUND & OBJECTIVES: There is considerable inter-observer variability in the diagnosis of molar pregnancies by histomorphological examination of products of conception (POC). The p57KIP2 gene is paternally imprinted and expressed from the maternal allele. On immunohistochemistry (IHC) with p57, complete mole (CM) shows absent staining whereas hydropic abortus (HA) and partial mole (PM) show positive staining. This study was undertaken to evaluate the role of p57 IHC along with histomorphology in differentiating between CM, PM and non-molar or HA. METHODS: This was a cross-sectional study over a period of three and a half years on archival material. Detailed histomorphological review along with p57 IHC was carried out in 28 diagnosed cases (23 CM, 4 PM and 1 molar pregnancy not categorized) and 25 controls of four normal placentas and 21 POC (8 non-hydropic and 13 HA). RESULTS: In 14.8 per cent (4/27) cases, there was discordance in accurate subtyping of molar pregnancy. One case of CM showed inconsistent IHC pattern. In 15.4 per cent (2/13) HA, molar pregnancy was final diagnosis. After final review, there were 25 CM, five PM, 22 non-molar controls including 10 HA and one not assigned (PM/HA). IHC with p57 was negative in 96 per cent CM and positive in 100 and 95 per cent PM and non-molar controls, respectively. INTERPRETATION & CONCLUSIONS: This study showed that negative p57KIP2 immunostaining reliably identified CM and could be used in association with the histological findings to distinguish CM from its mimics.

A Confounding Case of Inherited Factor V Deficiency Complicated by Inhibitors at First Presentation.

INTRODUCTION: Inherited factor V deficiency / Owren's disease has varied clinical manifestations ranging from asymptomatic laboratory abnormalities to massive hemorrhage. The acquired form due to inhibitors following antibiotic therapy, infection, or surgery is less common, and spontaneous development of inhibitors is not known. CASE REPORT: An 18-year-old boy presented with bleeding axillary and groin ulcers. At the age of 15, due to recurrent epistaxis and gum bleed, he was diagnosed with acquired factor V deficiency with positive inhibitor screen and treated with fresh frozen plasma (FFP) transfusion and temporary azathioprine. Coagulation workup at his current presentation also revealed acquired factor V deficiency with presence of inhibitors. The tests were repeated after 6 weeks of intermittent FFP transfusion, and the differences observed included negative inhibitor screen and complete correction on mixing studies, but factor V level was 2%. DISCUSSION: Evidence of inhibitors at presentation favored acquired disease. However, younger age of onset, detection of inhibitors 1 year after first episode of self-regressing bleed, lack of identifiable triggers, and persistent bleeding with reduced factor levels after disappearance of inhibitors favored inherited factor V deficiency. CONCLUSION: In this case report, we have described an interesting case of severe inherited factor V deficiency with spontaneous appearance and disappearance of inhibitors exhibiting nonspecific factor inhibitory activity.

Solitary papule over scalp.

Folliculosebaceous cystic hamartoma (FSCH) is a rare cutaneous hamartoma characterized by follicular, sebaceous, and mesenchymal elements. Folliculosebaceous cystic hamartoma is probably not as rare as previously thought and its inclusion in the differential diagnosis of asymptomatic skin colored papules or nodules is warranted, especially if it is present in the head and neck region.

Gelatinous marrow transformation: a series of 11 cases from a tertiary care centre in South India.

Gelatinous marrow transformation (GMT) or serous atrophy of bone marrow (BM) is a rare disease characterised by focal marrow hypoplasia, fat atrophy, and accumulation of extracellular mucopolysaccharides abundant in hyaluronic acid. This study reviews 11 cases of GMT from South India. Clinical and haematological parameters, BM aspirate, and biopsies of all patients diagnosed with GMT over a period of 7 years were studied. GMT was diagnosed in BM biopsy based on characteristic morphological appearance and was confirmed by alcian blue positive staining pattern at pH levels of 2.5 and 0.5. Eleven patients were diagnosed with GMT. All were males within the age range of 15 to 50 years. The underlying clinical diagnosis was human immunodeficiency virus positivity in 5 cases, 2 with coexistent disseminated tuberculosis, 1 with cryptococcal meningitis, and 1 with oral candidiasis; disseminated tuberculosis in 1 case; pyrexia of unknown origin in 2 cases; Hodgkin's lymphoma in 1 case; acute lymphoblastic lymphoma with maintenance chemotherapy in 1 case; and alcoholic pancreatitis in 1 case. BM aspirates showed gelatinous metachromatic seromucinous material in 3 cases. BM biopsies were hypocellular in 7 and normocellular in 4 cases and showed focal GMT in 5 and diffuse GMT in 6 cases. Reactive changes were seen in 4 cases and haemophagocytosis in addition to GMT in 1 case. GMT is a relatively uncommon condition and an indicator of severe illness. It should be differentiated from myelonecrosis, amyloidosis, and marrow oedema. A high index of suspicion is required to diagnose this condition.

Immunophenotypic Profile and Measurable Residual Disease Monitoring in Multiple Myeloma: A Prospective Study From a Tertiary Care Centre in Southern India.

BACKGROUND: Multiple myeloma (MM) immunophenotyping (IPT) and measurable residual disease (MRD) monitoring by flow cytometry is a surrogate for progression-free survival and overall survival in clinical trials. However, plasma cell enumeration is challenging owing to morphological discrepancies and plasma cell (PC) loss during the sample processing. METHODS: In (n=87) newly diagnosed MM patients, we evaluated the immunophenotype of PCs at baseline, and for a subset of 35 patients MRD at post-induction was quantified and analyzed for association with outcomes and survival. The software Statistical Package for Social Sciences (SPSS), version 16.0 (SPSS Inc., Chicago, IL, USA) was used for all the statistical analysis. RESULTS: Immunophenotyping showed strong positive expression of CD56 (83%), CD200 (94%), CD38 (92%), and CD117 (91%) and negative/weak expression of CD19 (83%), CD45 (89%), CD27 (74%), and CD81 (90%) respectively. Negative/weak expression of CD19 was significantly associated with age ≥56 years (p<0.048), with lower albumin (<3.4g/dL, p<0.001). Strong positive CD56 expression was significantly associated with the presence of M-protein (p<0.03). Strong positive CD117 expression was significantly associated with lower albumin (p<0.02). Strong positive CD200 expression was significantly associated with a good response (p<0.02). The median (IQR) value of bone marrow (BM)-MRD% was 0.005 (0.002-0.034). We found that there was no significant difference in the correlation, association, and survival outcomes with MRD%. CONCLUSION: This study sheds light on the utility of IPT as an invaluable diagnostic tool in disease management. The findings of this study could be important when it comes to modifying the criteria for high-risk diseases and implementing a risk-adapted first therapy in clinical practice.

Autoimmune Hemolytic Anemia in Children: Clinical Profile and Outcome.

OBJECTIVE: To discover the common triggers for AIHA in children, their clinical profile, treatment response, and outcome. METHODS: This was an ambispective descriptive study conducted between 2013 and 2020. Children aged 1 mo to 14 y with hemolytic anemia and a positive direct antiglobulin test (DAT) were included. Children with a positive DAT but without any clinicolaboratory evidence of hemolysis were excluded. Data were collected from a structured pro forma with particulars comprising clinicolaboratory profile, treatment administered, and disease outcome. RESULTS: A total of 46 children (aged between 1 mo and 14 y) were enrolled in the study. The mean age of onset was 8.7 (± 4.34) y, and 24 (52.8%) were males. Secondary causes were observed in 29 (63%) cases, while the primary cause was found in 17 (37%). Systemic lupus erythematosus (SLE) was the common trigger in 13 (45%) cases, followed by malignancy in 4 (14%) cases. Pallor (98%), hepatomegaly (72%), and splenomegaly (48%) were the most commonly observed clinical signs. The mixed immunophenotype was observed in 27 (59%) cases, followed by warm type in 12 (26%) and cold agglutinin type in 7 (15%) cases. All children received glucocorticoid therapy, and mycophenolate mofetil was commonly used as second-line therapy in 15 (33%) cases. 13 cases (71%) of primary AIHA and only 4 (14%) cases of secondary anemia achieved complete remission. Overall, 7 children (15%) died, all belonging to secondary AIHA. CONCLUSION: Secondary AIHA was more common than primary in the present study, and SLE was the standard trigger. Primary AIHA carries a better prognosis than secondary.

The Difficulties and Ease of Diagnosing Anaplastic Large Cell Lymphomas on Cytology.

Introduction and Objectives: Anaplastic large cell lymphoma (ALCL), a unique non-Hodgkin lymphoma (NHL), is a CD30-positive neoplasm of T-cell lineage. Its distinctive yet variable cytomorphology makes diagnosing fine needle aspiration cytology (FNAC) challenging. This study was undertaken to study the cytomorphology and the utility of immunocytochemical (ICC) stains on cytology in ALCL and to discuss their morphological differential diagnosis. Materials and Methods: The present study was conducted in the Department of Pathology of a tertiary care center. A retrospective review was done from January 2017 to July 2022, and all histopathologically and immunohistochemically (IHC) diagnosed cases of ALCL were taken and correlated with the cytological diagnosis. Results: Twenty-one cases of histopathology examination and IHC-proven cases of ALCL were retrieved from the departmental archives and reviewed. The ages ranged from 3 to 80 years (median age 28 years). Commonly noted cytomorphologic features included singly dispersed large pleomorphic cells, hallmark cells, and Reed-Sternberg-like cells. CD15, CD30, epithelial membrane antigen, and anaplastic lymphoma kinase-1 were some of the ICC stains used in this study. All 21 cases had cytology correlation. Fourteen cases had concordant cyto-histological correlation. Seven cases of histopathologically proven ALCL were reported as Hodgkin lymphoma (HL) in three, ALCL/anaplastic diffuse large B-cell lymphoma, HL/ALCL, poorly differentiated carcinoma, and NHL in one case each on cytology. Conclusion: ALCL has a reasonably distinct cytomorphologic appearance and ICC staining pattern, and a careful interpretation of both helps arrive at a reliable FNAC diagnosis.

Flow Cytometric Assessment of CD26-Positive Leukemic Stem Cells: A Rapid and Valuable Tool in the Diagnosis and Follow-Up of Chronic Myeloid Leukemia.

Context Chronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasm. Recent studies have suggested that CD26-positive leukemic stem cells (LSCs) circulating in peripheral blood are specific for CML. Objective This study was undertaken to determine the proportion of CD26-positive LSCs at diagnosis and its change during tyrosine kinase inhibitor therapy. Design This prospective study was conducted on 43 cases of CML at diagnosis. For flow cytometry, peripheral blood cells were stained with CD45, CD34, CD38, CD3, and CD26. A sequential gating strategy with CD45/SSC (side scatter), CD34/SSC, and CD34/CD38 was applied to identify CD45+/34+/38- populations, from which CD26-positive stem cells were identified and compared with controls. Data analysis was done with Kaluza software. Results All patients diagnosed with CML were detected with CD26-positive LSCs. The median percentage of CD26-positive CML LSCs was 0.02 with a range of 0.001 to 1.77. None of the control samples showed CD26 positivity. The percentage and absolute count of CD26-positive CML LSCs were reduced after six months of tyrosine kinase therapy in patients with complete hematological remission. Conclusion Flow cytometric analysis of circulating CD26-positive CML LSCs is a non-invasive, rapid, and useful tool in the diagnosis and follow-up of CML.

Vitamin B12 and homocysteine in patients with major depressive disorder.

Background: Alterations in the level of neurotransmitters are evident in patients with major depressive disorder (MDD). Vitamin B12 mediates the synthesis of neurotransmitters, and hence, vitamin B12 deficiency could be associated with depression. Aims and Objectives: To assess the levels of serum vitamin B12, homocysteine (Hcy), and haematological profiles in patients of MDD. Materials and Methods: Fifty-nine patients with MDD were recruited based on ICD-10 criteria. Severity of depression was assessed by HAM-D scale. Vitamin B12, Hcy levels, and haematological profiles were analysed. Results: Vitamin B12 was deficient or depleted in all patients with MDD. The median level of vitamin B12 in serum was 164.2 pg./ml and significantly lower in patients with severe MDD. The mean value of Hcy was 18.34 µmol/L, which was high compared to the normal reference range. The red cell distribution width (RDW-CV) varied significantly between the three groups of MDD patients. Patients consuming non-vegetarian food had a significantly higher median value of serum vitamin B12. Conclusion: Vitamin B12 deficiency is found in patients with MDD and varies inversely with severity of MDD. Hcy is found to be higher in patients with MDD. The manifestation of depressive symptoms precedes the more commonly known haematological manifestations of vitamin B12 deficiency in this study.

Myeloid sarcoma: Experience from a tertiary care center in southern India - A series of eight unusual cases.

BACKGROUND: Myeloid sarcoma (MS) is a tumor mass comprising myeloid blasts with or without maturation occurring in any site other than bone marrow. It is a rare and distinct clinical presentation of myeloid neoplasm. MATERIALS AND METHODS: This is a retrospective study over 7 years (2015-2022) comprising a series of eight cases, which includes clinical details, morphology, immunohistochemistry (IHC) markers, cytogenetics, and molecular details. RESULTS: These cases showed up as an isolated MS (3/8), as an initial clinical presentation in acute myeloid leukemia (1/8), as acute myeloid leukemia (1/8), as a disease progression in primary myelofibrosis (1/8), as chronic myeloid leukemia (1/8), and as BCR-ABL-negative myelodysplastic syndrome/myeloproliferative neoplasm (1/8). One of the three isolated MS was incorrectly identified as having Ewing's sarcoma. One case each presented at the cervical lymph node, mediastinum, skin, sacral soft tissue, maxillary sinus, and perinephric fat, and two cases presented at the hard palate. CONCLUSION: Four of the cases in our study were clinically thought of as lymphoma/sarcoma, which was a major diagnostic challenge. All but one case succumbed to their disease. Without adequate clinical history and appropriate use of ancillary techniques such as IHC in tissue biopsies, flow cytometry, cytogenetics, and molecular studies, these cases have a high chance of being misdiagnosed as non-Hodgkin lymphoma, small round blue cell tumor, or undifferentiated carcinomas, which can complicate patient management and prognosis.

Clopidogrel resistance in North Indian patients of coronary artery disease and lack of its association with platelet ADP receptors P2Y1 and P2Y12 gene polymorphisms.

Aspirin and Clopidogrel are used in prophylaxis of patients undergoing percutaneous coronary intervention and long-term prevention of cardiovascular and cerebrovascular events. Clopidogrel resistance has been attributed to P2Y1 and P2Y12 adenosine diphosphate (ADP) receptor polymorphisms. This study enrolled 100 patients of coronary artery disease (CAD) who were on the maintenance dose of clopidogrel (75 mg OD) with or without aspirin. In addition, 10 received loading dose (300 mg) prior to percutaneous coronary intervention. Relevant clinical and drug history were elicited. ADP-induced platelet aggregation study and PCR-RFLP for P2Y1 (1622A > G) and P2Y12 (i-T744C) polymorphisms were performed. Two groups of controls were used for defining cut-off for platelet aggregation response. Follow-up data, wherever available was recorded. The most common pattern of aggregation response was disaggregation, either complete (46.4%) or partial (53.6%). A frequency of 13% clopidogrel non-responders and 19% semi-responders was found. All the cases were H1/H1 haplotype for P2Y12 gene polymorphism and 28 (29.2%) patients carried P2Y1 1622A > G (21(21.9%) AG and 7(7.3%) GG) gene polymorphism, the frequency being greater in clopidogrel responders compared to semi/non-responders but difference was not statistically significant. There was no statistically significant difference between responders and semi/non-responders in terms of the history of risk factor for CAD, concurrent atorvastatin use or past history of an acute vascular event. On follow up, the two patients who developed myocardial infarction/acute coronary syndromes (MI/ACS) were clopidogrel semi- and non-responder, respectively. Variability in clopidogrel response with 13% non-responders and 19% semi-responders was seen in this study with adverse outcome (MI/ACS) on follow up seen in two patients. Hence, poor response to clopidogrel may be related to increased likelihood of adverse long-term coronary event that may benefit from additional or alternative anti-platelet therapy. Clopidogrel resistance was not associated with ADP receptor P2Y1 and P2Y12 gene polymorphisms. Hence, it is postulated that clopidogrel resistance in CAD patients is multifactorial and not caused by single-gene polymorphisms.

Umbilicated nodule over eyebrow.

Trichofolliculoma is a pilosebaceous follicle hamartoma in which several hairs are formed within single pilosebaceous unit and protrude out of single orifice. Herein we report a 45-year-old woman with a trichofolliculoma of the eyebrow.

Quantification of circulating clonal plasma cells by multiparametric flow cytometry as a prognostic marker in patients with newly diagnosed multiple myeloma.

BACKGROUND: Studies have shown that the quantification of circulating clonal plasma cells (cCPCs) in peripheral blood using flow cytometry could be used as a prognostic predictor of poor outcome in multiple myeloma (MM). METHODS: In 66 newly diagnosed MM, cCPCs were quantified (cCPC%) and analysed for association with outcome and survival. Single-tube combined surface (CD45/CD19/CD138/CD38/CD56/CD27/CD81 as per availability) and cytoplasmic (kappa/lambda) staining was done using pre-titrated volumes of antibodies. In 26 patients, repeat cCPC% was assessed post-induction therapy. For association studies, treatment response has been taken as good (VGPR and above) and poor (PR and below). All statistical analyses were performed with SPSS software version 16.0. RESULTS: There was no significant association between cCPC% at baseline with staging (p = 0.43), ß2 -microglobulin (p = 0.27) and albumin (p = 0.08). There was a significant difference between the pre-induction and post-induction cCPC% (p = 0.0001). The patients were segregated using a cut-off of ≥0.197 and <0.197 based on the median values of baseline cCPC%. The post-induction outcome was available for 47 patients among whom 33 (70%) had VGPR and above. There was a significant association between higher cCPC% at baseline with poor treatment response (p = 0.008). The median OS in the study patients was 42 (CI 28.14-43.03) months and the median PFS was 39 (CI 28.49-49.04) months. Higher cCPC% showed a lower median PFS (30 vs. 39 months) and OS (35 vs. 41 months) compared to lower cCPC% though it was not statistically significant. CONCLUSION: Flow cytometric baseline cCPC% in newly diagnosed MM was associated with poor treatment response and survival.