Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …

Histiocytic sarcoma is a rare malignant neoplasm that may occur de novo or in the context of
a previous hematologic malignancy or mediastinal germ cell tumor. Here, we performed …

Juvenile myelomonocytic leukaemia (JMML) is a rare clonal disorder of early childhood.
Constitutive activation of the RAS pathway is the initial event in JMML. Around 90% of …

Juvenile myelomonocytic leukemia (JMML) is a pediatric myelodysplastic/myeloproliferative
neoplasm overlap syndrome with sustained peripheral blood monocytosis, aggressive …

Despite relatively few 'driver'mutations in CMML, evolutionary development of chronic
leukemia remains incompletely understood. Recent studies have shed light on the …

Noonan and LEOPARD syndromes (NS and LS) belong to a group of related disorders
called RASopathies characterized by abnormalities of multiple organs and systems …

Acute myeloid leukemia (AML) in the setting of Noonan syndrome (NS) has been reported
before without clear guidelines for treatment or prognosis in these subgroups of patients …

Background Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The
differential diagnosis is extensive and the success of identifying a cause depends on the …

Introduction Juvenile myelomonocytic leukemia (JMML) is a rare clonal myelodysplastic/
myeloproliferative neoplasm of early childhood. Historically, it was difficult to diagnose …

Juvenile myelomonocytic leukemia (JMML) is the most confusing mimicker of KMT2A-
rearranged acute myeloid leukemia (AML). Clinical presentation, age of susceptibility …