Mature T-cell neoplasms
|| 46 year old female
|| Skin rash, fatigue, weight loss, sweats, noticed new LNs in neck bilaterally
|| Lymphocytosis (25 X109/L), Elevated Ca2+ - 3.4
The blood films were examined as shown:
The blood film confirms a lymphocytosis. The lymphocyte population is atypical and pleomorphic, variable in size with striking irregular nuclear convolutions and folding.
Blood immunophenotyping by FACS reveals the presence of the following antigens;-
Immunophenotyping demonstrates a clonal CD3+ T cell lymphocytosis in the peripheral blood at 92% of total cells. The T cell population is positive for CD2, CD5 (pan T cell antigens) but aberrantly negative for CD7. The T cells are also positive for CD4, CD25.
The cells are negative for CD8, CD103, TCR gamma-delta, CD30 (small % only is positive at 4%), CD56, CD16 and CD57.
The immunophenotype taken together with the clinical findings is most consistent with Adult T-cell leukaemia/lymphoma (ATLL). The clinical history with systemic symptoms and hypercalcaemia point towards the acute variant of ATLL.
Endemic in SW Japan, Caribbean and Central Africa. A disease of adults. Associated with HTLV-1, which is causative in creating transcriptional activation of genes in infected lymphocytes.
Blood involvement often not reflected in the degree of BM involvement. >50% of patients have skin involvement.
Variants: acute, lymphomatous, smouldering, chronic.
Mature B-cell neoplasms
|| 62 year old male
|| He is noted to have small volume generalised lymphadenopathy and a palpable spleen.
|| Routine pre-operative full blood count: Haemoglobin 10.8, White Blood Cells 88.0 (Neuttophils 2.2, lymphocytes 82) and Platelets 86.
Further investigation using a blood film and peripheral blood immunophenotyping showed:
The blood film confirms a lymphocytosis. The cells are small, mature lymphocytes, with scanty cytoplasm, their morphology is uniform. Smear (or smudge) cells are noted. There is no significant prolymphocyte population.
Lymphoid immunophenotyping demonstrates a CD19+ B cell population which is neoplastic. Clonality is demonstrated by lambda light chain restriction (the cells are lambda+, kappa-).
The B cell phenotype shows aberrant and uniform CD5 expression on CD19+ B cells. The B cells are predominantly CD23+ and are negative for CD20, CD79b and CD10.
This immunophenotype is typical for B-CLL.
- The cells are negative for CD103 (hairy cell leukaemia), CD34 (progenitors) and other T cell antigens (except CD5).
- The B cell population is negative for CD38, this may be associated with a favourable prognosis.
- CD38+ expression (on >30% of CLL cells) is associated with an adverse prognosis and correlates with unmutated Ig gene status.
- The final diagnosis is chronic lymphocytic leukaemia (CLL). CLL is the most common leukaemia of adults in Western populations. It is predominantly seen in older adults aged >60. The incidence is 2-6 cases per 100,000 and increases with age.
- The disease predominantly involves peripheral blood and marrow, causing lymphocytosis and as the disease progresses, a reduction in other cell counts (Hb and platelets).
- Patients may also have lymphadenopathy, hepatosplenomegaly and occasionally extranodal disease.
- The majority of patients at presentation are asymptomatic. Some patients present symptomatic with fatigue, weight loss, sweats, recurrent infections, autoimmune haemolytic anaemia or bulky lymphadenopathy or splenomegaly.