Anaplastic sarcoma of the kidney with chromosomal abnormality: first report on cytogenetic findings

Gomi, Kiyoshi; Hamanoue, Satoshi; Tanaka, Mio; Matsumoto, Mitsuru; Kitagawa, Norihiko; Niwa, Tetsu; Aida, Noriko; Kigasawa, Hisato; Tanaka, Yukichi

doi:10.1016/j.humpath.2010.03.008

Cited by 14 publications

(13 citation statements)

References 10 publications

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“…Anaplastic sarcoma of the kidney is a recently recognized pediatric tumor 112 seen in children or adolescents younger than 15 years of age 113 with a female predominance. 114 Patients typically present with a large renal mass, and the most common sites of metastases are the lung, liver, and bones.…”

Section: Anaplastic Sarcomamentioning

confidence: 99%

An Approach to Renal Masses in Pediatrics

Malkan¹,

Loh²,

Bahrami³

et al. 2015

Pediatrics

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Renal masses in children may be discovered during routine clinical examination or incidentally during the course of diagnostic or therapeutic procedures for other causes. Renal cancers are rare in the pediatric population and include a spectrum of pathologies that may challenge the clinician in choosing the optimal treatment. Correct identification of the lesion may be difficult, and the appropriate surgical procedure is paramount for lesions suspected to be malignant. The purpose of this article is to provide a comprehensive overview regarding the spectrum of renal tumors in the pediatric population, both benign and malignant, and their surgical management.

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Section: Anaplastic Sarcomamentioning

confidence: 99%

An Approach to Renal Masses in Pediatrics

Malkan¹,

Loh²,

Bahrami³

et al. 2015

Pediatrics

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“…Anaplastic sarcoma of kidney (ASK) is a rare and aggressive tumor often confused with malignant mesenchymoma, rhabdomyosarcoma, and anaplastic Wilms tumor . Recently, ASK has been described in patients with renal cysts or cystic nephroma (CN), which have been associated with DICER1 mutations .…”

Section: Introductionmentioning

confidence: 99%

Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome

Goudie

Druker

et al. 2016

Pediatric Blood & Cancer

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Anaplastic sarcoma of kidney (ASK) is a rare neoplasm recently associated with DICER1 mutations. We report a child with germline DICER1 mutation who developed ASK in preexisting septated renal cysts, which were likely cystic nephroma. From age 2.5 to 6 years, sonographic imaging illustrated changes in the size and number of renal cysts, followed at age 8.8 years by a mass, pathologically an ASK. Lung cysts resected in infancy were diagnosed retrospectively as pleuropulmonary blastoma. Both tumors had acquired somatic DICER1 mutations. Ultrasonographic evolution of renal cysts to ASK has not previously been documented. Children with both pulmonary and renal cysts are candidates for DICER1 mutation testing.

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“…To the best of our knowledge, only four studies have reported such translocations. [7][8][9][10] In particular, the breakpoint we observed, t(10;18)(q26;q21), was unique because it is not among these reported translocations. Although we could not identify what was fused with the gene residing in 18q21.3 (possibly the BCL2 gene), since this patient is too stable to perform further analysis, these results indicate that characterizing the gene (s) affected by this rare translocation may lead to further understanding of the biology of MDS.…”

Section: Discussionmentioning

confidence: 99%

A case of myelodysplastic syndrome with t(10;18)(q26;q21)

et al. 2019

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An 82-year-old male was admitted. Pancytopenia, a slightly low white blood cell count (3400/μL), and low levels of red blood cells (2.65 × 106/μL), hemoglobin (10.4 g/dL), and platelets (118,000/μL) were observed. Bone marrow aspiration was performed, revealing hypocellular bone marrow and normal blast levels (0.6%) with no dysplasia. G-banding chromosome analysis revealed the karyotype 45,X,-Y[3]/45, idem, t(10;18)(q26;q21)[13]/46,XY[4]. The patient was diagnosed with myelodysplastic syndrome, unclassified (MDS–U). This is the first case report demonstrating a patient with the chromosomal translocation, t(14;18)(q32;q21), which is extremely rare. This chromosomal aberration was critical for the diagnosis of MDS in this patient.

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Anaplastic sarcoma of the kidney with chromosomal abnormality: first report on cytogenetic findings

Cited by 14 publications

References 10 publications

An Approach to Renal Masses in Pediatrics

An Approach to Renal Masses in Pediatrics

Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome

A case of myelodysplastic syndrome with t(10;18)(q26;q21)

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