Question

CASE STUDY I:

A 42-year-old woman presented with a 2-month history of fatigue and weakness and a 2-week history of a sore throat. She reported a 15-pound weight loss over the past month or two. One week prior to admission she started antibiotics for her sore throat, but she reported little improvement; she subsequently developed a peritosillar abscess. On admission to the hospital she was found to have an elevated white blood cell count with a large number of circulating blasts.

The physical examination of the patient showed an anxious, middle-aged woman whose vital signs were normal, aside from a slightly elevated temperature (37.6°C). Her right tonsil was enlarged and inflamed. She had no adenopathy, and her liver and spleen were not palpable.

Laboratory studies were ordered, and the following results were reported: hematocrit, 19.5%; hemoglobin, 6.3 g/dL; platelets, 64 x 10⁹/L; and white blood cell (WBC) count 79.2 x 10⁹/L. A peripheral blood smear was manually reviewed in the hematology laboratory and the differential diagnosis included 80% blasts.

A bone marrow aspirate and biopsy were obtained, which both showed virtually total replacement of normal elements with sheets of poorly differentiated cells. The aspirate smears showed sheets of blasts. The blasts were relatively large (15 to 20µm) with a moderate amount of cytoplasm. The nuclei varied in shape from round to oval, and some were indented or folded; most had several distinct small nucleoli. And occasional blast had azurophilic granules, but this was the exception. No Auer rods were seen. The biopsy specimen was hypercellular, approaching 100% cellularity in some areas. The morphology of the aspirated cells was similar to those seen in the peripheral blood except that fewer of the cells had folded nuclei, and, in general the nuclear-to-cytoplasmic (N:C) ration was higher. Cytochemical studies of the aspirate smears were positive: the myeloperoxidase stain was positive in approximately 30% of the blasts and the NSE (α-naphthyl buyrate) was positive in occasional cells (less than 5%).

A portion of the aspirate was analyzed using flow cytometry. The blast immunophenotype was as follows: CD7, CD13, CD33, dim CD45, and HLA-DR. Importantly, TdT, CD19, CD3 and immunoglobins were all negative.

Another portion of the aspirate was sent for conventional karyotyping and showed normal karyotype. FISH analysis for a genetic abnormality involving 11q23 MLL showed a majority of cells with a translocation involving the MLL gene.

answer the question below

Research and Discuss the suspected diagnosis:

Include etiology, epidemiology, diagnosis, treatment, and prognosis.

Answer 1

# Suspected diagnosis is Acute lymphoblastic leukaemia - Acute proliferation of immature lymphoid cells (lymphoblasts) in bone marrow & peripheral blood

# Four major types of ALL

1) Early precurser/pre-pre-B-cell (pro-B-ALL)

2) Precurso B- cell (Pre-B-ALL)

3) Mature B-cell (mB-ALL)

4) T cell (T-ALL)

# ALL Etiology

-B- or T-cell lineage

-Chromosomal translocations or other mutations in CLP

-Age of presentation: small children

# Possible Risk Factors

Hereditary chromosomal abnormalities

Viral exposures (HTLV1/2, EBV)

Exposure to radiation

Genetic disorder

Brother or sister with ALL

Previous cancer treatment

# Incidence

Median age of diagnosis: 13 years

But does have a bimodal distribution (can get ALL as elderly patients)

# Signs/Symptoms

Anemia, thrombocytopenia, neutropenia

High, normal, or low WBC count

Spontaneous tumor lysis syndrome

Pain in joints/extremities

Enlarged lymph nodes, liver, spleen

Constitutional symptoms

CNS disease, testicular disease

# Diagnostic Workup/Evaluation

History & physical exam

CBC w/ diff and CMP

Bone marrow biopsy

CNS imaging if neuro symptoms present (CNS disease more common)

Lumbar puncture (for CNS evaluation for malignant cells)

HLA typing (for potential BMT)

Cardiac assessment

Central line placement

Cytogenetic analysis

# Acute lymphoblastic leukemia treatment include :-

chemotherapy and sometimes radiation therapy

-induction

-consolidation

-interim maitainance

-delayed intensification

-maintenance therapy

# Bone marrow transplant in cases of relapse if the disease is in control .