t[8;14][q24.1;q32] and its variant translocations: a study of 34 cases

Background: The t[8;14][q24.1;q32] and its variants - the t[2;8][p12;q24.1] and t[8;22][q24.1; q11.2] are associated with B-cell neoplasia and result in MYC/immunoglobulin [IG] gene rearrangement

Patients and methods: We correlated the cytogenetic, molecular and clinico-pathological findings of patients with 8q24 translocations seen in the Department of Haematology, Christian Medical College, Vellore, from January 2003 to December 2015

Results: There were 34 patients with 8q24 translocations [31, ALL and three myeloma]. The t [8;14] was seen in 25 patients, t[8;22] in seven and t[2;8] in two. The salient findings were as follows: 85% males; 79% adults, median age 37 years; L3 morphology in 61%; mature B immunophenotype in 77%; extra-medullary disease in 41%; additional abnormalities in 28 [85%], notably, structural abnormalities of chromosome 1q [41%] and 13q [9%] and monosomy 13 [15%]; complex karyotypes in 68%. There were two double-hit lymphoma/leukemia, one with a t[14;18][q32;q21] and the other with a t[3;14][q27;q11.2], associated with nodal high grade B cell lymphoma and dermal leukemic infiltrates respectively Only 13 samples were processed for DNA PCR and all these samples were positive for MYC-IgH [c-gamma type] rearrangement. Only in one patient, in addition to c-gamma, c-alpha rearrangement was also detected

Conclusion: The frequency [1.7%] and distribution of these translocations in our series and the association with 1q and 13q abnormalities is similar to the literature. Trisomies 7 and 12 were seen in less than 10% of our patients

MYH9-related disorder, a probable May-Hegglin anomaly case series: a tertiary care experience

Objective/background: May-Hegglin anomaly [MHA] is a rare familial bleeding disorder characterized by a triad of thrombocytopenia, giant platelets, and Dohle-like inclusion bodies within the leukocytes. The clinical spectrum as well as the pathophysiology of this entity is not well defined. The objective of this work is to present a series of three cases of MHA diagnosed in our hospital, where the patients presented with variable bleeding manifestations, thrombocytopenia, and giant platelets

Materials and Methods: We studied three cases of possible MHA. In addition to the clinical examination, complete hemogram, and peripheral blood smear examination, these patients were also subjected to coagulation studies. Although bleeding symptoms varied among these patients, platelet aggregation tests with various agonists showed a normal response

Results: Consistent findings of this entity noted in our patients were mild-to-moderate thrombocytopenia, giant platelets, and Dohle-like inclusions within the leukocytes

Conclusion: A diagnosis of MHA could be made based on a thorough peripheral blood smear examination, which also helps to avoid a misdiagnosis of immune thrombocytopenia