Chromosomal microarray analysis of benign mesenchymal tumors with RB1 deletion

Dusenbery, Anna C; Davick, Jonathan J.; LeGallo, Robin D.; Williams, Eli S.

doi:10.1016/j.humpath.2020.06.005

Cited by 5 publications

(3 citation statements)

References 28 publications

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“…Furthermore, monoallelic deletions of the forkhead box O1 gene (FOXO1 also known as FKHR, located on 13q14.11) were found in seven out of 10 mammary myofibroblastomas examined genetically with a FISH probe for FOXO1 (11,(13)(14)(15). In other studies, monoallelic deletions of the RB transcriptional corepressor 1 (RB1, located on 13q14.2) gene were found in five out of nine examined mammary myofibroblastomas (16)(17)(18); eight of the cases were examined with a FISH probe for RB1 (16,17), whereas the ninth tumor was examined with OncoScan in a copy variant study (18). The results we present here, i.e., loss of an entire chromosome 13, which would correspond to monoallelic losses of both FOX1 and RB1 if that had been studied, confirm the previously reported key role of -13 or other forms of loss of material from 13q in mammary myofibroblastomas.…”

Section: Discussionmentioning

confidence: 91%

“…Mammary myofibroblastomas exhibit morphological as well as (patho)genetic similarities with other benign connective tissue tumors, but perhaps especially with spindle-cell lipoma (1,3,6,9,(10)(11)(12)(13)(14)(15)(16)(17)(18)(21)(22)(23)). If we dwell on the genetics they have in common, the only two myofibroblastomas reported to date with cytogenetic aberrations both showed loss of material from chromosome 13 (10): one tumor had the karyotype 46,XY,del(13)(q?12q?32), whereas that of the second was 45,XY,add(1)(p36),-6,del(13)(q14),-der(16)t(6;16) (p11;p13)del(16)(q12).…”

Section: Discussionmentioning

confidence: 99%

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Monosomy 13 in Mammary Myofibroblastoma

et al. 2021

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Background/Aim: Myofibroblastoma of the breast is a rare benign mesenchymal tumor whose morphology is similar to that of spindle-cell lipoma. The few hitherto genetically investigated mammary myofibroblastomas have been shown to have had loss of material from chromosome 13, changes that are also common in spindle-cell lipoma. Our aim was to add to the existing knowledge of genetic aberrations in mammary myofibroblastoma by investigating another such tumor. Materials and Methods: Cytogenetic and array comparative genome hybridization (aCGH) analyses were performed on a surgically removed mammary myofibroblastoma from a 76-year-old man. Results: Shortterm cultured cells from the tumor showed the karyotype 45, XY,idem,add(19)(q13)[cp2]. aCGH detected loss of one entire chromosome These findings add to the evidence that loss of 13q material is typical of mammary myofibroblastomas.Mammary myofibroblastoma is a rare benign mesenchymal tumor of the breast reported for the first time in 1987 in 11 male and 5 female adult patients as a lesion "largely composed of myofibroblasts arranged in fascicular clusters with interspersed bands of hyalinized collagen" (1). Until 2018, fewer than 90 tumors had been reported (2). In most of the publications (3-12), single cases were described adding to the evidence that these are rare tumors. Genetic information on mammary myofibroblastoma is available for 21 tumors: two were examined by G-banding and karyotyping (10); ten by fluorescence in situ hybridization (FISH) analysis using a probe specific for the forkhead box O1 (FOXO1) gene which maps to chromosome sub-band 13q14.11 (11,(13)(14)(15); eight using a FISH probe for the RB transcriptional corepressor 1 (RB1 located on 13q14.2) gene (16, 17); and one tumor was examined by OncoScan as part of a copy-number variant study of 11 benign mesenchymal tumors (18). Because of the rarity of the tumor and the limited genetic information, we present here another mammary myofibroblastoma examined by banding cytogenetics and array comparative genome hybridization (aCGH). Materials and MethodsEthics statement. The study was approved by the Regional Ethics Committee (Regional komité for medisinsk forskningsetikk Sør-Øst, Norge; http://helseforskning.etikkom.no; 2010/1389/REK sør-øst A). Written informed consent was obtained from the patient. The Ethics Committee's approval included a review of the consent procedure. All patient information has been de-identified. Case Report. A tumor was removed from the breast of a 76-year-old male patient. It measured 5×4×3 cm, had a solid consistency and was well demarcated from the surrounding adipose tissue (Figure 1A). Microscopically, the tumor was partly well demarcated from surrounding adipose tissue in some areas (Figure 1B) but in other areas less so (Figure 1C). The tumor cells were elongated and intermingled with hyaline fibers (Figure 1D). Loosely arranged spindle cells with indistinct cell borders were seen (Figure 1E). Mitotic figures were sparse. Necrosis was not present. No ductal structures w...

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Monosomy 13 in Mammary Myofibroblastoma

et al. 2021

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“…SCLs characteristically show heterozygous deletions in the 13q14 chromosomal region, which contains RB1. 10 Morphological subtypes of SCL include those resembling lipoma (predominantly comprised mature adipocytes with a minimal spindle cell component or ropey collagen); fat-poor SCL, in which the mature adipocytic component is minimal or absent 11,12 ; pseudoangiomatous SCL, 13 which shows pseudopapillary or villiform projections of the tumor into dilated, cleft-like, or vascular-like spaces; and dendritic fibromyxolipoma, 14 which shows cells with long dendritic processes in an abundant myxoid stroma containing a prominent and plexiform of vessels. Areas of osseous or cartilaginous metaplasia and extramedullary hematopoiesis have also been described in SCL.…”

Section: Discussionmentioning

confidence: 99%

Spindle Cell Lipoma With Florid Primary Follicular Lymphocytic Hyperplasia: A Novel Association With Potential Diagnostic Pitfalls

Fattah

Liu

Susa³

et al. 2023

The American Journal of Dermatopathology

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Spindle cell lipoma (SCL) is a benign subcutaneous lipomatous neoplasm with a heterogeneous histologic appearance that varies greatly depending on the amount of fat, collagen, and myxoid stroma, which define the multiple subtypes of SCL, such as fat poor SCL, pseudoangiomatous SCL, and dendritic fibromyxolipoma. Cutaneous lymphoid hyperplasia is a spectrum of benign conditions characterized by reactive B-cell and T-cell cutaneous lymphocytic infiltrates. Cutaneous B-cell lymphoid hyperplasia is a heterogeneous group of non-neoplastic conditions that can be observed as reactive phenomena to infections, medications, allergens, or neoplasms and must be distinguished from cutaneous B-cell lymphomas. Here, we report a novel case of spindle cell lipoma, associated with B-cell primary lymphoid follicular hyperplasia, mixed within the tumor in a peculiar pattern, while discussing potential diagnostic pitfalls with low-grade B-cell lymphomas. This is the first report of such association in the literature.

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