Central nervous system lesions due to juvenile myelomonocytic leukemia progressed in a boy undergoing first line

Hiroko Fukushima1, Takashi Fukushima, Akiyoshi Hiraki

  • 1Department of Pediatrics, Tsukuba University Hospital, Tsukuba, Japan. fukushima-tuk@umin.ac.jp

Insights

Juvenile myelomonocytic leukemia (JMML) can rarely affect the central nervous system. This case highlights successful treatment of JMML with brain lesions using intensive chemotherapy and stem cell transplantation.

Area of Science:

  • Pediatric Hematology Oncology
  • Neuro-oncology
  • Rare Pediatric Malignancies

Background:

  • Juvenile myelomonocytic leukemia (JMML) is a rare pediatric cancer.
  • Central nervous system (CNS) infiltration is uncommon but a significant concern in acute leukemia.

Observation:

  • A boy with JMML developed multiple brain lesions during standard chemotherapy (6-mercaptopurine and cytarabine).
  • CNS involvement was confirmed via MRI, CSF cytology, and clinical presentation.

Findings:

  • The patient received high-dose cytarabine, intrathecal chemotherapy, and unrelated cord blood stem cell transplantation.
  • Achieved and maintained complete remission for over 18 months post-transplant with no neurological deficits.

Implications:

  • This case demonstrates that JMML can infiltrate the CNS even under standard chemotherapy.
  • CNS-directed therapy followed by stem cell transplantation can lead to favorable outcomes in pediatric JMML with CNS involvement.

Related Concept Videos

Differentiation of Common Myeloid Progenitor Cells01:15

Differentiation of Common Myeloid Progenitor Cells

Common myeloid progenitors (CMPs) are oligopotent cells that can differentiate into granulocytes and macrophages. Granulocytes and macrophages are essential for protecting the body against bacterial, viral, or fungal infections. They migrate from the bone marrow into the circulating blood to reach specific tissue sites where they differentiate and help in immune surveillance. However, they survive only for a few days and must be continuously made available to the organism to maintain a robust...
Disorders of Leukocytes01:27

Disorders of Leukocytes

Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune system...
Tumor Progression02:07

Tumor Progression

Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Treatment Resistant Cancers02:56

Treatment Resistant Cancers

Cancer is the second leading cause of death in the United States. A cancer cell is genetically unstable and hence can mutate faster. They can also modify their microenvironment and escape immune surveillance. The difficulties in treating cancer are further compounded by the emergence of rapid resistance to anticancer drugs. The most common ways to attain resistance in cancer cells include alteration in drug transport and metabolism, modification of drug target, elevated DNA damage response, or...
Bone Marrow Sampling and Transplants01:22

Bone Marrow Sampling and Transplants

Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy the...