1.A Case of B-cell Precursor Acute Lymphoblastic Leukemia with the t(14;22)(q32;q11) Presenting Hyperleukocytosis
Jianne LEE ; Sun Young KIM ; Yeon Jung LIM
Clinical Pediatric Hematology-Oncology 2022;29(2):89-91
B-cell precursor acute lymphoblastic leukemia (BCP-ALL), which is the most common type of ALL, has an excellent prognosis with long-term event-free survival of 90%.The malignancy has several genetic abnormalities that may influence patient prognosis. Rearrangements of the three immunoglobulin genes IGK (2p12), IGH (14q32), and IGL (22q11) are often seen, especially in non-Hodgkin lymphoma (NHL), but recombination of these genes are uncommon. The translocation, t(14;22)(q32;q11) has been reported in only 9 B-cell leukemia/lymphoma cases, but there has been no report about the clinical feature and prognosis of BCP-ALL with t(14;22)(q32;q11). In this paper, we describe the first pediatric case of BCP-ALL with t(14;22)(q32;q11) who presented with a very high white blood cell (WBC) count. He achieved cytogenetic complete remission after induction chemotherapy, and negative minimal residual disease (MRD) at the end of consolidation.
2.Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia
Mi Hyeon GANG ; Jianne LEE ; Yong Wook LEE ; Ji Hye SHIN ; Han Hyuk LIM ; Yoo-Mi KIM ; Mea-young CHANG
Journal of Genetic Medicine 2020;17(2):108-111
Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.