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Malakoplakia with aberrant ALK expression by immunohistochemistry: a case report
Xiao-Ying Zhang1, Jun Li2, Shui-Lian Chen1
1Department of Pathology, Panyu District Central Hospital, Guangzhou, China.
Diagnostic Pathology
|August 29, 2023
Summary
This study reports the first case of malakoplakia with aberrant anaplastic lymphoma kinase (ALK) expression. Differentiating this from ALK-positive histiocytosis is crucial to prevent misdiagnosis.
Area of Science:
- Oncology
- Pathology
- Rare Diseases
Background:
- Malakoplakia is a rare inflammatory condition affecting the urogenital tract.
- Anaplastic lymphoma kinase (ALK) expression has not been previously reported in malakoplakia.
- This study investigates a unique case of malakoplakia with aberrant ALK expression.
Observation:
- A 65-year-old female patient presented with liver and kidney masses and colonic lesions.
- Histopathological examination revealed characteristic Michaelis-Gutmann bodies within histiocytes.
- Immunohistochemistry demonstrated aberrant cytoplasmic and nuclear expression of ALK1 and ALK (D5F3).
Findings:
- The case presented is the first documented instance of malakoplakia exhibiting aberrant anaplastic lymphoma kinase (ALK) expression.
- Genetic analysis did not reveal ALK gene mutations but identified nine novel somatic gene mutations.
- The significance of these mutations in the context of malakoplakia remains unclear.
Implications:
- Accurate differentiation of this condition from ALK-positive histiocytosis is essential to avoid misdiagnosis.
- Understanding aberrant ALK expression in malakoplakia may offer new diagnostic avenues.
- Further research is needed to elucidate the role of identified somatic mutations in malakoplakia pathogenesis.
