Congenital Dyserythropoietic Anemia Type IV (CDA-IV) is still an emerging new disease with approximately 10 cases reported over the past three decades. CDA-IV is known to be caused by a specific mutation in exon 3 of KLF1, an erythroid transcription factor KLF1 with substitution of glutamic acid with lysine at residue 325 (KLF1 E325K). Because of the rarity of this disorder the presenting features are incompletely defined; especially the non-erythroid comorbidities. Here we report a new case, a male child, presenting with fetal hydrops and dysmorphic external genitalia.

Non Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) are rare in the pediatric age group, accounting for 1-7% of all pediatric tumors. Leiomyosarcoma, a subtype of NRSTS, is exceedingly rare in pediatric population. Due to the rarity of this condition, management is extrapolated from other common NRSTS which involves surgery, chemotherapy and radiation. Chemotherapy is not very effective in management of pediatric leiomyosarcoma and molecular information may help guide targeted therapies. We describe a patient with a FGFR1-TACC1 gene rearrangement which, based on other models, predicts for sensitivity to FGFR inhibitors.

Monocyte subset analysis by flow cytometry has been shown to be a useful diagnostic tool in chronic myelomonocytic leukemia in adults. An increase in the classical monocyte fraction (CD14++/CD16-) greater than 94.0% of total monocytes is considered highly sensitive and specific in distinguishing CMML from other myeloproliferative disorders. In a pilot study of juvenile myelomonocytic leukemia cases, we noted that CD14++/CD16- monocyte fraction was >95% in de novo JMML with somatic PTPN11 mutations but normal in those with monosomy 7 or Noonan syndrome. Monocyte subgroup profiling by itself is not diagnostic of JMML but may distinguish molecular subgroups within JMML.