BACKGROUND Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with the characteristics of a complex genetic trait. Based on experimental evidences as well as on association and linkage studies candidate genes TGFA, RARA and BCL3 have been postulated as being involved in the genetic etiology of this pathology. AIM To test the possible association due to linkage disequilibrium b...

In only few decades, remarkable advances in biology and therapy have transformed acute promyelocytic leukemia (APL), once regarded as the most rapidly fatal human leukemia, into a paradigm of targeted treatment in human cancer, with most patients being nowadays curable without any or with only small amounts of conventional chemotherapy. Yet, the management of this rare subtype of leukemia remai...

Multiplex reverse transcription polymerase chain reaction (mRT-PCR) has recently emerged as an alternative to cytogenetics. We designed and used simplified mRT-PCR system as a molecular screen for acute leukemia. Fifteen fusion transcripts were included: BCR-ABL1, PML-RARA, ZBTB16-RARA, RUNX1-RUNX1T1, CBFB-MYH11, DEK-NUP214, TCF3-PBX1, ETV6-RUNX1, MLL-AFF1, MLL-MLLT4, MLL-MLLT3, MLL-MLLT10, MLL...

A 66-year-old man with a history of hepatitis C virus and liver transplantation presented to the emergency department for shortness of breath. He had received weekly filgrastim for chronic neutropenia, and immediately before admission he had received 3 days of filgrastim and 1 day of pegfilgrastim. A hemogram showed a white blood cell count of 4.54 K/mL with 23% blastic cells. Emergent bone mar...

Different fusion oncogenes in acute myeloid leukemia (AML) have distinct clinical and laboratory features suggesting different modes of malignant transformation. Here we compare the in vitro effects of representatives of 4 major groups of AML fusion oncogenes on primary human CD34+ cells. As expected from their clinical similarities, MLL-AF9 and NUP98-HOXA9 had very similar effects in vitro. Th...

Early relapse detection in acute myeloid leukemia is possible using standardized real-time quantitative polymerase chain reaction (RQ-PCR) protocols. However, optimal sampling intervals have not been defined and are likely to vary according to the underlying molecular lesion. In 74 patients experiencing hematologic relapse and harboring aberrations amenable to RQ-PCR (mutated NPM1 [designated N...

BACKGROUND Nephroblastoma or Wilms tumor is the most frequent kidney cancer in children and accounts for 98% of kidney tumors in this age group. Despite favorable prognosis, a subgroup of these patients progresses to recurrence and death. The retinoic acid (RA) pathway plays a role in the chemoprevention and treatment of tumors due to its effects on cell differentiation and its antiproliferativ...

BACKGROUND The recent study described a better outcome in acute promyelocytic leukemia patients treated with all-trans retinoic acid and arsenic oxide compared to those treated with all-trans retinoic acid combined with conventional chemotherapy. The pivotal study indicated that favorable-risk acute promyelocytic leukemia patients can be cured without any cytotoxic chemotherapy. Even high-risk ...

2249, and Ro44-4753, respectively. These synthetic retinoids were kindly provided by F. Hoffman-La Roche, Ltd (Basel, Switzerland). Our experiments also showed that the incubation of NB4 cells with the RARa selective agonist, Ro40-6055, induced cell differentiation into neutrophils and apoptosis. These effects were not exerted by Ro48-2249 and Ro44-4753. When NB4 cells were incubated with 0.01 ...