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AMP case report: Role of lymphoma sequencing panel in diagnosis of pediatric-type follicular lymphoma

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Conclusion. The absence of BCL2 and BCL6 rearrangements and variants in epigenetic modifiers, the identification of MAP2K1 and TNFRSF14 mutations, and the clinical presentation (young male with cervical lymphadenopathy) all contributed in this case to the refinement of the initial diagnosis of typical follicular lymphoma to PTFL. This report emphasizes the importance of gene sequencing studies in the diagnostic workup of clinically challenging lymphoma cases.

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Dr. Yang was a hematopathology fellow (at the time the case report was written), Dr. Caponetti is assistant professor of clinical pathology and laboratory medicine, Dr. Roth is assistant professor of clinical pathology and laboratory medicine, Dr. Elenitoba-Johnson is the Peter C. Nowell, MD, professor and director of the Center for Personalized Diagnostics and of the Division of Precision and Computational Diagnostics, and Dr. Lim is professor of pathology and laboratory medicine and director of hematopathology—all at the University of Pennsylvania Perelman School of Medicine and the Hospital of the University of Pennsylvania. Dr. Yang is now an instructor, Department of Laboratory Medicine and Pathology, University of Minnesota Medical School.

Test yourself

 

  • Here are three questions taken from the case report.
  • Answers
1. Which statement is true about pediatric-type follicular lymphoma?

a. Its treatment usually involves only local excision.
b. Its prognosis is usually poor.
c. It usually harbors BCL2 and BCL6 rearrangements.
d. It mainly affects females.

2. Which of the following hematopoietic neoplasms commonly have MAP2K1 variants as driver mutations?
a. Hairy cell leukemia variant.
b. Langerhans cell histiocytosis.
c. Hairy cell leukemia.
d. All of the above.

3. Which statement is false about TNFRSF14?
a. It is one of the most common variants observed in PTFL.
b. Its encoded protein is a member of the TNF (tumor necrosis factor) receptor superfamily.
c. Its variants are specific for PTFL.
d. Its encoded protein activates the inflammatory and inhibitory T cell immune response.

1. Which statement is true about pediatric-type follicular lymphoma?

a. Its treatment usually involves only local excision.
b. Its prognosis is usually poor.
c. It usually harbors BCL2 and BCL6 rearrangements.
d. It mainly affects females.

2. Which of the following hematopoietic neoplasms commonly have MAP2K1 variants as driver mutations?
a. Hairy cell leukemia variant.
b. Langerhans cell histiocytosis.
c. Hairy cell leukemia.
d. All of the above.

3. Which statement is false about TNFRSF14?
a. It is one of the most common variants observed in PTFL.
b. Its encoded protein is a member of the TNF (tumor necrosis factor) receptor superfamily.
c. Its variants are specific for PTFL.
d. Its encoded protein activates the inflammatory and inhibitory T cell immune response.

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