Clinical Image-Based Question - Need PG 2023

Clinical Scenario

• Patient: 63-year-old male
• Chief Complaints: Fatigue and weakness over the past month
• Investigation: Peripheral smear

Question

Most likely genetic change associated with the patient?

Genetic Changes and Associated Conditions

1. Translocation t(9;22)

   • Condition: Chronic Myeloid Leukemia (CML)
   • Alternate Condition: Acute Lymphoblastic Leukemia (ALL) (primary case CML)

2. Translocation t(15;17)

   • Condition: Acute Myeloid Leukemia (AML), primarily M3 (Acute Promyelocytic Leukemia)

3. Translocation t(11;14)

   • Condition: Mantle Cell Lymphoma (Non-Hodgkin's Lymphoma)

4. Translocation t(11;18)

   • Condition: Follicular Lymphoma (Non-Hodgkin's Lymphoma)

Correct Answer

• Translocation t(15;17)
  • Seen in AML, primarily M3 (Acute Promyelocytic Leukemia)

Histological Slides and Their Significance

Auer Rods

1. Image Description: Magnified view showing cytoplasmic inclusions called Auer Rods
2. Associated Condition: AML (primarily M1 to M3, especially M3 - Acute Promyelocytic Leukemia)
3. Composition: Crystallized enzymes (e.g., Myeloperoxidase)
4. Clinical Significance: Can lead to Disseminated Intravascular Coagulation (DIC) due to mass cell destruction
5. Appearance: Stains as elongated red or pink crystals

Reed-Sternberg Cell (RS Cell)

1. Image Description: Owl-eye appearance cell
2. Associated Condition: Hodgkin's Lymphoma
3. Variants: Pleomorphic, Lacunar, Popcorn, Mummy
4. Differential Diagnosis: Seen in some solid cancers, infectious mononucleosis, immunoblastic lymphoma

Buttock Cells

1. Image Description: Foamy or bubbly cytoplasm in lymphocytes
2. Associated Condition: Follicular Lymphoma (Non-Hodgkin's Lymphoma)

Starry Sky Appearance

1. Image Description: Cells with interspersed lighter areas resembling a starry sky
2. Associated Condition: Burkitt Lymphoma
3. Types: Endemic, Sporadic, HIV-related

Hairy Cell Leukemia

1. Image Description: Cells with hairy projections
2. Microscopic Technique: Seen under phase contrast microscopy
3. Associated Condition: Hairy Cell Leukemia (B-cell tumor)

Horseshoe-Shaped Nucleus

1. Image Description: Cells with horseshoe-shaped nucleus
2. Associated Condition: Anaplastic Large Cell Lymphomas
3. Markers: Express CD30; targetable with anti-CD30 molecules for good prognosis

Cerebriform Nucleus

1. Image Description: Nucleus with brain-like convolutions
2. Associated Condition: Cutaneous T-cell Lymphomas
3. Marker: CD4 tumor

Tennis Racket Cells

1. Image Description: Cells resembling tennis rackets
2. Associated Condition: Langerhans Cell Histiocytosis
3. Mutation: VCBRAF mutation

Flower Cells

1. Image Description: Cells with petal-like extensions
2. Associated Condition: Adult T-cell Leukemia

Smudge Cells

1. Image Description: Fragile cells that appear smudged
2. Associated Condition: Chronic Lymphocytic Leukemia (CLL)
3. Alternate Names: Basket Cells, Parachute Cells
4. Appearance: Convent girl appearance (similar-looking cells)

Pseudo-Gaucher Cells

1. Image Description: Cells with accumulated cytoplasm
2. Associated Condition: Seen in Chronic Myeloid Leukemia (CML); different stages of maturation
3. Alternate Name: Flower garden appearance

Summary

These histological images are crucial for the identification of various hematological cancers, and knowing them well can greatly aid in diagnosis and answering clinical questions effectively.