Mili Jain

Pure Red Cell Aplasia: A Rare Complication of Isoniazid Therapy

Pure red cell aplasia (PRCA) is the term widely applied to isolated anemia secondary to failure of erythropoiesis. The cardinal findings are a low hemoglobin level, reticulocytopenia, and absent or extremely infrequent erythroid precursor cells in the marrow. Despite its infrequency, PRCA has been a subject of much laboratory research because of its link to an immune mechanism of erythropoietic failure and as a manifestation of parvovirus B19 infection and destruction of marrow red cell progenitors. However, because of its infrequency, PRCA has not been the subject of large or controlled clinical trials; as a result, therapeutic recommendations are based on single cases or small series. This condition may appear as an acquired defect of either acute or chronic etiology, or a congenital form (Diamond–Blackfan Anemia). The acquired causes of PRCA include infections, malnutrition, thymoma, chronic lymphocytic leukemia, clonal myeloid disease, collagen vascular disease, post stem cell transplant, anti erythropoietin antibodies, pregnancy and drugs. The drugs are supposed to cause PRCA idiosyncratically and include diphenylhydantoin, sulfa and sulfonamide drugs, azathioprine, allopurinol, isoniazid, procainamide, ticlopidine, ribavirin, and penicillamine [1]. There are very few reports of development of PRCA during antituberculous treatment (ATT). In this article, we report an additional case and review the literature, thereby emphasizing the need for clinicians to be alert from this rare complication of ATT.

ICUS/CCUS/CHIP: basics & beyond

ABSTRACT Introduction: Patients presenting with idiopathic cytopenia with non-diagnostic marrow morphology and a normal karyotype pose a diagnostic and therapeutic challenge. Additional diagnostic information from mutation analysis could provide important clinical insights. However, one has to be cautious during such diagnostic interpretations in view of the recent documentation of clonal somatic mutations in healthy elder individuals. Whether to regard clonality synonymous with malignant proliferation or a manifestation of ageing process is to be judged carefully. Areas covered: The review covers defining criteria and diagnostic work up for Idiopathic cytopenia of undetermined significance (ICUS), Clonal cytopenia of undetermined significance (CCUS), Clonal hematopoiesis of indeterminate potential (CHIP). It also presents the results from previous reports on this subject. In addition the evolution and potential impact of these entities is discussed. Expert commentary: Current evidence does not support the use of somatic mutations as presumptive evidence of myelodysplastic syndrome (MDS). Including CCUS under the category of MDS requires further insight on natural disease course. Longitudinal follow up study on ICUS, CCUS, CHIP may eventually identify the pathological significance of the clonal mutations. An absence of mutation however may still be useful as good predictor of not having MDS.

Hypertriglyceridemia thalassemia syndrome

Abstract Background Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. Case presentation We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made. Conclusions The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.

Anemia with thrombocytosis in an elderly male: a case of myelodysplastic syndrome-myeloproliferative neoplasm with ringed sideroblasts and thrombocytosis

yelodysplastic syndrome (MDS)-myeloproliferative neolasm (MPN) with ringed sideroblasts and thrombocytosis MDS/MPN-RS-T) is a rare entity categorized under the yelodysplastic-myeloproliferative group (MDS/MPN) in the ecent 2016 World Health Organization (WHO) update on he classification of myeloid neoplasms.1 Initially named s refractory anemia with ringed sideroblasts associated ith marked thrombocytosis (RARS-T), it was a provisional ntity under MDS/MPN in the 2008 WHO classification of ematopoietic tumors. Patients with this condition have linico-morphological features of MDS (RARS) along with arked thrombocytosis and abnormal megakaryocytes simiar to those seen in breakpoint cluster region-Abelson murine eukemia-1 (BCR ABL1)-negative MPN.

CD8 expression in B chronic lymphocytic leukemia: A case of immuno-phenotypic aberrancy

Immuno‐phenotyping forms an integral part of laboratory work up of Chronic lymphocytic leukemia (CLL). Aberrant antigen expressions are a known phenomenon in leukemic blasts, however cross lineage antigen expression is rarely seen in mature B cell leukemia, the reported percentages varying from 1% to 3% in Europe and North America.

Circulating Tumor Cells In Neuroblastoma

A 2-year-old girl presented with fever, hepatomegaly, and progressively increasing proptosis of the right eye for 1 month. Abdominal ultrasound revealed a well-defined multi-lobulated predominantly hyperechoic mass lesion of 10.9x2.5x6.1 cm with a few foci of coarse calcification and small cystic areas arising from the right suprarenal region. The lesion was inferiorly compressing the renal parenchyma; however, the interface was well maintained. Medially it was crossing the midline and encasing the aorta and its branches. The features were of neuroblastoma. The diagnosis was confirmed by TruCut biopsy from the suprarenal mass showing small round blue cells with salt and pepper chromatin. Immunohistochemistry was positive for synaptophysin. Non-contrast computerized tomography scanning of the head and orbit revealed a right retro-orbital mass with specks of calcification. The peripheral blood smears showed a few clusters and rosettes of circulating neuroblastoma cells. The bone marrow aspirate smears showed extensive infiltration by neuroblastoma cells dispersed singly, in clusters as well as in rosettes with central neuropils (Figure 1). The patient was categorized as stage IV as per the International Neuroblastoma Staging System.

Osteopetrosis in twin infants mimicking leukemia

Osteopetrosis (OP) variably referred to as ‘Marble bone disease’ or ‘Albers Schonberg disease’ was first described by a German radiologist in 1904. It is a group of genetically and clinically heterogeneous disorders characterized by increased skeletal density. Clinical severity varies from asymptomatic adults to a life-threatening condition in infants. Autosomal recessive osteopetrosis has an incidence of 1 in 250,000 births while the dominant form has an incidence of 1 in 20,000 births.1 We report on twin infants with osteopetrosis presenting a leukoerythroblastic picture and hepatosplenomegaly mimicking leukemia.

Erythrovirus B19 induced persistent bicytopenia in a healthy child

Immune thrombocytopenia (ITP), with an incidence of 3–5 per 100,000 individuals, is diagnosed by exclusion. Erythrovirus B19 (EV19) infection has been reported to be associated with ITP in from 13% to 50% of cases.1–3 Combined chronic red cell hypoplasia and thrombocytopenia has been rarely reported in otherwise healthy individuals. We report a case of EV19-induced erythroid hypoplasia and thrombocytopenia diagnosed on bone marrow examination.

Cellular and plasma nitrite levels in myeloid leukemia: a pathogenetic decrease

Abstract Nitric oxide (NO) has a contributory role in hemopoietic cell growth and differentiation. The effects of NO on leukemic cell growth have been predominantly studied in in vitro settings. This study was done to assess the alterations in nitrite level in myeloid leukemias. Thirty-six newly diagnosed cases of myeloid leukemia (16 AML and 20 CML) were enrolled in the study. Neutrophil precursors from the marrow aspirate and peripheral blood were separated into cell bands using the Percoll density gradient method of Borregard and Cowland. The blood plasma and marrow fluid was also collected. Nitrite (stable non-volatile end product of NO) was estimated in the cell bands, blood plasma and marrow fluid using Griess reagent. The mean nitrite level in all cell bands from peripheral blood, bone marrow, blood plasma, and marrow fluid of cases was significantly lower as compared to corresponding value in the controls. No significant difference between AML and CML was seen. On follow-up, analysis of 13 CML patients higher nitrite levels were seen (p>0.05). The significant decrease in nitrite levels in myeloid leukemia suggests a decrease in nitric oxide synthase (NOS) activity. Further work may unfold molecular targets for therapeutic role of NO modulators.

Chediak-Higashi Syndrome in Accelerated Phase Masquerading as Acute Leukemia

We present a 3-year-old female born of a consanguineous marriage with the complaints of high-grade fever, petechial spots, abdominal distension, and lymphadenopathy for 20 days. She had pallor, hypopigmented hairs, petechial rashes, and palpable lymph nodes (up to 1 cm) in the bilateral inguinal and cervical region. Systemic examination revealed hepatosplenomegaly. Her hematological profile was as follows: hemoglobin of 8.4 g/dL, normocytic normochromic red cell indices, platelet count of 11x109/L, total leukocyte count of 7x109/L with increased lymphocytes (68.5%), and lactate dehydrogenase raised at 796 IU/L. The peripheral blood smear examination revealed giant granules in neutrophils, lymphocytes, and monocytes (Figure 1). Bone marrow examination revealed similar granules in myeloid precursors with moderate hemophagocytosis. Examination of the hair shafts showed large melanin granules (Figure 2). Her liver function tests, kidney function tests, and chest X-ray results were within reference ranges. She was diagnosed with Chediak-Higashi syndrome (CHS) in the accelerated phase.