Acute promyelocytic leukemia with unusual morphological features, absence of the t(15,17) and rearranged PML/RAR alpha genes.

نویسندگان

  • A Cantù-Rajnoldi
  • A B Federici
  • A Biondi
  • A Cortelezzi
  • L Romitti
  • G Gornati
  • G Gaipa
  • G Gianotti
  • P Mannucci
چکیده

cute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia with unique morphologic, cytogenetic, molecular and clinical features. Besides the classical hypergranular variant, there is also a cytological microgranular variant with significant clinical implications in both children and adults. Moreover, a basophilic form and a hyperbasophilic microgranular variant have been described, suggesting further morphological heterogeneity. t(15;17) is considered the specific cytogenetic marker for both the hypergranular and microgranular variants, and diagnosis of APL could be questionable in the absence of this cytogenetic abnormality. PML and RARa genes are involved by t(15;17) and their rearrangement is considered the molecular counterpart of the translocation. However, the existence of cases lacking this translocation but showing rearrangements of the PML/RARa genes has recently been reported. The availability of a more sensitive approach to APL diagnosis would obviously be of great importance in view of the thera-

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

PML protein expression in hematopoietic and acute promyelocytic leukemia cells.

Acute promyelocytic leukemia (APL) is thought to be caused by the t(15,17) translocation that fuses the PML gene to that of the retinoic acid receptor alpha (RAR alpha) and generates a PML/RAR alpha fusion protein. Yet, paradoxically, APL cells are exquisitely sensitive to retinoic acid (RA), as they terminally differentiate upon RA exposure. In this report, we have examined the expression of P...

متن کامل

The PML/RAR alpha fusion gene in the diagnosis and monitoring of acute promyelocytic leukemia.

The acute promyelocytic leukemia (APL)-specific t(15;17) chromosome abnormality is characterized at the molecular level by rearrangement of the PML and RAR alpha genes, resulting in fusion PML/RAR alpha mRNA and a chimeric protein. Besides its relevance in the pathogenesis of the disease, this hybrid gene represents a specific tumor marker that is rapidly detectable by reverse transcriptase-pol...

متن کامل

Reverse transcription polymerase chain reaction for the rearranged retinoic acid receptor alpha clarifies diagnosis and detects minimal residual disease in acute promyelocytic leukemia.

The characteristic t(15;17) of acute promyelocytic leukemia (APL) fuses the retinoic acid receptor alpha (RAR-alpha) gene on chromosome 17 to a gene on chromosome 15 called PML, a putative transcription factor. This distinct translocation results in a fusion mRNA detected by Northern analysis. Two cDNAs have been isolated that differ in the extent of 3' PML nucleic acid sequence contained. This...

متن کامل

A PML/retinoic acid receptor alpha fusion transcript is constantly detected by RNA-based polymerase chain reaction in acute promyelocytic leukemia.

The t(15;17) translocation is specifically observed in patients with promyelocytic leukemia (AML3). The chromosomal rearrangement juxtaposes the retinoic acid receptor alpha (RAR alpha) and PML genes, resulting in PML/RAR alpha fusion transcripts. Our previous studies have shown that a polymerase chain reaction (PCR) amplification product could be obtained from the cDNA of the NB4 promyelocytic...

متن کامل

A retinoid-resistant acute promyelocytic leukemia subclone expresses a dominant negative PML-RAR alpha mutation.

The unique t(15;17) of acute promyelocytic leukemia (APL) fuses the PML gene with the retinoic acid receptor alpha (RAR alpha) gene. Although retinoic acid (RA) inhibits cell growth and induces differentiation in human APL cells, resistance to RA develops both in vitro and in patients. We have developed RA-resistant subclones of the human APL cell line, NB4, whose nuclear extracts display alter...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Haematologica

دوره 79 3  شماره 

صفحات  -

تاریخ انتشار 1994