Which chromosomal translocation is pathognomonic for Burkitt lymphoma?

Question

Accepted Answer

D. t(8;14)(q24;q32). ## Burkitt Lymphoma and t(8;14)

**Key Point:** The translocation t(8;14)(q24;q32) is pathognomonic for Burkitt lymphoma, occurring in >95% of cases.

### Molecular Mechanism
This translocation juxtaposes the **MYC oncogene** (chromosome 8q24) with the **immunoglobulin heavy chain (IgH) locus** (chromosome 14q32), resulting in constitutive MYC overexpression and uncontrolled cell proliferation.

### Variant Translocations
Approximately 5% of Burkitt lymphomas carry variant translocations:
- t(2;8)(p12;q24) — MYC with kappa light chain locus
- t(8;22)(q24;q11) — MYC with lambda light chain locus

These variants have identical pathogenic consequences but occur less frequently.

**High-Yield:** MYC translocation is the defining genetic feature of Burkitt lymphoma and is required for diagnosis. It is also present in some cases of diffuse large B-cell lymphoma (DLBCL) with poor prognosis ("double-hit" or "triple-hit" lymphomas).

**Clinical Pearl:** Burkitt lymphoma is one of the fastest-growing human tumours, with a doubling time of ~24 hours. The MYC translocation drives this aggressive proliferation.

### Diagnostic Approach
| Feature | t(8;14) | Variant Translocations |
|---------|---------|------------------------|
| Frequency | >95% | ~5% |
| Gene involved | MYC | MYC |
| Partner locus | IgH | Ig light chain |
| Prognostic significance | Same | Same |

**Mnemonic:** **BL-MYC-14** — Burkitt Lymphoma, MYC gene, chromosome 14 (IgH).

Answer

A. t(9;22)(q34;q11)

Answer

B. t(14;18)(q32;q21)

Answer

C. t(11;14)(q13;q32)

Which chromosomal translocation is pathognomonic for Burkitt lymphoma?

Explanation

Burkitt Lymphoma and t(8;14)

Molecular Mechanism

Variant Translocations

Diagnostic Approach

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Feature	t(8;14)	Variant Translocations
Frequency	>95%	~5%
Gene involved	MYC	MYC
Partner locus	IgH	Ig light chain
Prognostic significance	Same	Same