Chronic Lymphocytic Leukemia Transdifferentiates into Neuroendocrine Carcinoma: A Case Report of a New Phenomenon

Diana Diana Castro, MD, Liqun Zhang, MD, Subhadra Nandula, PhD, Jin Choe, MD, Donghong Cai, MD, PhD

Abstract


Richter’s Transformation of chronic lymphocytic leukemia (CLL) to diffuse large B-cell lymphoma or Hodgkin lymphoma (both are B-cell origin) are well described in literature. Recently, transformation of CLL into histiocytic/dendritic/Langerhans cell sarcoma (all are myeloid origin), dubbed as “transdifferentiation”, has also been reported. The mechanisms behind this phenomenon are not clear. Here we report the discovery of the first case of CLL evolving into a neuroendocrine carcinoma (NEC). A patient with long history of CLL developed a rectal mass and a liver mass. Biopsies confirmed rectal poorly differentiated NEC compositing with CLL, and liver metastatic NEC. FISH for CLL panel revealed trisomy 12 in both CLL and NEC.  B-cell heavy chain rearrangement study on blood sample (pure CLL) and liver metastatic NEC (pure NEC, no contamination from CLL) revealed that these two tumors shared similar monoclonal peaks. Therefore, the patient’s CLL and NEC were clonally related, and likely the NEC was transdifferentiated from CLL. This is the first case of transdifferentiation of CLL into carcinoma.

[N A J Med Sci. 2016;9(3):123-126.   DOI:  10.7156/najms.2016.0903123]


Keywords


chronic lymphocytic leukemia, neuroendocrine carcinoma, transdifferentiation

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