Terminal Deletion of the Long Arm of Chromosome 9 in Acute Promyelocytic Leukemia with a Cryptic PML/RARα Rearrangement

Yamamoto, Katsuya; Hamaguchi, Hiroyuki; Kobayashi, Masaru; Tsurukubo, Yoshito; Nagata, Kaoru

doi:10.1016/s0165-4608(99)00015-1

Cited by 12 publications

(9 citation statements)

References 21 publications

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“…This abnormality is correlated with a poor prognosis in not only APL, but also certain other subtypes of AML, notably AML with t(8;21). The presence of del(9q) as the sole cytogenetic abnormality without FISH-detectable PML-RARA fusion has been described in only one case report so far [9]. In addition, flow cytometric analysis revealed CD56 expression on the patient's promyelocytes.…”

Section: Discussionmentioning

confidence: 92%

“…A small proportion of patients with APL may lack evidence of APL by cytogenetics and FISH; therefore, we recommend that in cases of strong clinical and morphologic suspicion, as in our present case, reflex RT-PCR testing for PML-RARA transcript be performed. Deletion 9q has been described in 3-4% of cases of de novo AML, especially FAB M1 and M2 [9]. However, del(9q) is much rarer in APL and only few cases have been described.…”

Section: Discussionmentioning

confidence: 99%

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Acute Promyelocytic Leukemia with Cryptic PML-RARA Translocation and Del(9q) with CD56 Positivity: A Case Report

Sd¹

2017

Ann Hematol Oncol

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Acute promyelocytic leukemia (APL) is classically associated with t (15;17) and has a favorable prognosis upon immediate recognition and treatment. However, a small minority of APL cases shows cryptic translocations that are detected only by polymerase chain reaction (PCR). A high index of suspicion, based on peripheral blood or bone marrow morphology, flow cytometric data, and clinical features, is essential for the diagnosis of these cases. We suggest that in such cases with a high index of suspicion, a negative karyotype or FISH should be reflexed to PCR confirmation for detection of PML-RARA transcript. We present here a rare case of APL that is positive for PML-RARA only by PCR, hasdel(9q) as the sole cytogenetic abnormality, and is positive for CD56 on flow cytometry.

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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Acute Promyelocytic Leukemia with Cryptic PML-RARA Translocation and Del(9q) with CD56 Positivity: A Case Report

Sd¹

2017

Ann Hematol Oncol

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“…To our knowledge, 9q deletion has been described previously in 9 cases of de novo APL [11,[15][16][17][18] but not in t-APL. Reported here is an unusual case of t-APL following RAI exposure with an interstitial deletion of 9q in addition to the pathognomonic t (15:17).…”

Section: Discussionmentioning

confidence: 99%

“…Reported here is an unusual case of t-APL following RAI exposure with an interstitial deletion of 9q in addition to the pathognomonic t (15:17). Based on clinical observations, it has been proposed that APL with 9q deletion and the t(15:17) may have significantly worse prognosis than APL cases which have only the pathognomonic t(15;17) [11]. The unfavorable prognostic indication of 9q deletion has also been documented by an analysis of 51 cases of acute myeloid neoplasms with t(8;21)(q22;q22) [12].…”

Section: Discussionmentioning

confidence: 99%

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Interstitial Deletion of Chromosome 9q in Therapy-Related Acute Promyelocytic Leukemia with Pathognomonic t(15;17) in a Patient Exposed to Radioactive Iodine

Bindal¹,

Goel²,

Shimanovsky³

et al. 2017

Int J Blood Res Disord

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Chromosomal rearrangements and the pathogenesis of differentiated thyroid cancer

et al. 2007

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The majority of thyroid cancers arise from the follicular cells of the thyroid gland, which yield a wide variety of distinct morphotypes, ranging from relatively indolent lesions to the most malignant forms of cancer known. The remaining primary thyroid cancers arise from C cells within the gland and result primarily from mutations of the RET protooncogene, germ line mutations of which give rise to the various forms of multiple endocrine neoplasia. The most common of the follicular cell-derived cancers are papillary carcinomas, (PTC), followed by follicular carcinomas (FTC) and its Hurthle cell variant (HCC) and finally anaplastic carcinomas (ATC). The pathogenesis of many thyroid cancers, of both PTC and FTC morphotype, involves chromosomal translocations. Rearrangements of the RET protoconcogene are known to be involved in the pathogenesis of ca. 50% of PTC. A similar proportion of FTC have been associated with a t(2;3)(q13;p25) translocation, fusing the thyroid-specific transcription factor PAX8 with the peroxisome proliferator-activated receptor gamma (PPARγ) nuclear receptor, a ubiquitously expressed transcription factor. These rearrangements have analogy with translocations in erythropoetic cells, which form the only other known group of human malignancies that are largely the result of chromosomal translocation events. In this review we compare and contrast the oncogenic properties of thyroid and erythroid chromosomal transformations and speculate on mechanisms leading to their formation.

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Terminal Deletion of the Long Arm of Chromosome 9 in Acute Promyelocytic Leukemia with a Cryptic PML/RARα Rearrangement

Cited by 12 publications

References 21 publications

Acute Promyelocytic Leukemia with Cryptic PML-RARA Translocation and Del(9q) with CD56 Positivity: A Case Report

Acute Promyelocytic Leukemia with Cryptic PML-RARA Translocation and Del(9q) with CD56 Positivity: A Case Report

Interstitial Deletion of Chromosome 9q in Therapy-Related Acute Promyelocytic Leukemia with Pathognomonic t(15;17) in a Patient Exposed to Radioactive Iodine

Chromosomal rearrangements and the pathogenesis of differentiated thyroid cancer

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