“…G-Banding analysis yielded a karyotype with a single chromosomal abnormality: 46,XX,t(5;12)(p13;q14) [6]/46, XX [4] (Figure 2A). FISH analysis on metaphase spreads showed that the distal part of the HMGA2 probe hybridized to the p13 band of der(5), whereas the proximal part of the probe hybridized to the q14 band of der(12) ( Figure 2B).…”
Section: Resultsmentioning
confidence: 99%
“…Hamartoma is a benign tumor made up of an abnormal focal overgrowth of cells and tissues normally present in that part of the body. It can develop in various organs including the lungs, skin, hypothalamus and breast (1)(2)(3)(4). The term 'mammary hamartoma' was first used by Arrigoni et al (5) to describe a well-circumscribed breast lesion with varying amounts of benign epithelial elements, fibrous tissue, and fat (5).…”
Background/Aim: Myoid hamartoma of the breast is a very rare benign lesion of which only a few cases have been reported. The pathogenesis is unknown and nothing is known about its genetic constitution. We report here the genetic characterization of a myoid hamartoma of the breast. Materials and Methods: Cytogenetic, fluorescence in situ hybridization (FISH), RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing analyses were performed on a myoid hamartoma of the breast. Results: G-Banding analysis of short-term cultured tumor cells yielded the karyotype 46,XX,t(5;12)(p13;q14)[6]/46,XX[4]. FISH showed rearrangement of the high mobility group AThook 2 (HMGA2) gene. RNA sequencing detected fusion of HMGA2 (12q14) with a sequence from 5p13. RT-PCR together with Sanger sequencing verified the HMGA2-fusion transcript. Conclusion: Myoid hamartoma of the breast may be pathogenetically related to benign connective tissue tumors with HMGA2 rearrangements, such as pulmonary hamartomas, lipomas, myolipomas, and leiomyomas.
“…G-Banding analysis yielded a karyotype with a single chromosomal abnormality: 46,XX,t(5;12)(p13;q14) [6]/46, XX [4] (Figure 2A). FISH analysis on metaphase spreads showed that the distal part of the HMGA2 probe hybridized to the p13 band of der(5), whereas the proximal part of the probe hybridized to the q14 band of der(12) ( Figure 2B).…”
Section: Resultsmentioning
confidence: 99%
“…Hamartoma is a benign tumor made up of an abnormal focal overgrowth of cells and tissues normally present in that part of the body. It can develop in various organs including the lungs, skin, hypothalamus and breast (1)(2)(3)(4). The term 'mammary hamartoma' was first used by Arrigoni et al (5) to describe a well-circumscribed breast lesion with varying amounts of benign epithelial elements, fibrous tissue, and fat (5).…”
Background/Aim: Myoid hamartoma of the breast is a very rare benign lesion of which only a few cases have been reported. The pathogenesis is unknown and nothing is known about its genetic constitution. We report here the genetic characterization of a myoid hamartoma of the breast. Materials and Methods: Cytogenetic, fluorescence in situ hybridization (FISH), RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing analyses were performed on a myoid hamartoma of the breast. Results: G-Banding analysis of short-term cultured tumor cells yielded the karyotype 46,XX,t(5;12)(p13;q14)[6]/46,XX[4]. FISH showed rearrangement of the high mobility group AThook 2 (HMGA2) gene. RNA sequencing detected fusion of HMGA2 (12q14) with a sequence from 5p13. RT-PCR together with Sanger sequencing verified the HMGA2-fusion transcript. Conclusion: Myoid hamartoma of the breast may be pathogenetically related to benign connective tissue tumors with HMGA2 rearrangements, such as pulmonary hamartomas, lipomas, myolipomas, and leiomyomas.
“…These mammary buds normally atrophy, except the ones located in the fourth intercostal space on either side, which will develop into the breasts [ 16 ]. Incomplete invagination of the mammary buds results in developmental abnormalities [ 2 ]. Fig.…”
Section: Anatomy and Developmentmentioning
confidence: 99%
“…Developmental anomalies can be unilateral or bilateral and can involve the nipple, the breast, or both [ 2 ]. These anomalies are most common in the axillary region and in the inframammary fold, although they can arise at any point along the milk lines [ 11 , 16 ].…”
Section: Anatomy and Developmentmentioning
confidence: 99%
“…It is composed of different cells and specific tissues whose main function is to facilitate the drainage and secretion of breast milk during lactation [ 1 ]. A wide variety of abnormal conditions can affect the nipple-areolar complex, including developmental abnormalities, benign processes (e.g., inflammation, infection, tumors), and invasive and noninvasive cancers [ 2 – 5 ].…”
The anatomic and histologic characteristics of the nipple-areolar complex make this breast region special. The nipple-areolar complex can be affected by abnormal development and a wide spectrum of pathological conditions, many of which have unspecific clinical and radiological presentations that can present a challenge for radiologists. The nipple-areolar complex requires a specific imaging workup in which a multimodal approach is essential. Radiologists need to know the different imaging modalities used to study the nipple-areolar complex, as well as their advantages and limitations. It is essential to get acquainted with the acquisition technique for each modality and the spectrum of findings for the different conditions. This review describes and illustrates a combined clinical and radiological approach to evaluate the nipple-areolar complex, emphasizing the findings for the normal morphology, developmental abnormalities, and the most common benign and malignant diseases that can affect this region. We also present a diagnostic algorithm that enables a rapid, practical approach to diagnosing condition involving the nipple-areolar complex.
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