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Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome.

Gómez García EB, Lobbes MB, van de Vijver K, Keymeulen K, van der Ent F, Yntema HG, Tjan-Heijnen VC, Boetes C - Case Rep Radiol (2012)

Bottom Line: Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity.Fibrocystic disease of the breasts and multinodular goiter are minor criteria.Family history is also important for the diagnosis of (any) hereditary disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.

ABSTRACT
Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any) hereditary disease.

No MeSH data available.


Related in: MedlinePlus

Contrast-enhanced (subtraction) MR images (a) and contrast-enhanced T1-weighted MR images (b) show a large, lobulated heterogeneously enhancing mass with irregular borders in the lower lateral quadrant of the right breast (arrows).
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Related In: Results  -  Collection


getmorefigures.php?uid=PMC3405564&req=5

fig3: Contrast-enhanced (subtraction) MR images (a) and contrast-enhanced T1-weighted MR images (b) show a large, lobulated heterogeneously enhancing mass with irregular borders in the lower lateral quadrant of the right breast (arrows).

Mentions: A 26-year-old woman was diagnosed with breast cancer from biopsy of an axillary lymph node. An ultrasound (Figure 1) followed by an MRI of the breasts (Figures 2 and 3) were subsequently performed.


Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome.

Gómez García EB, Lobbes MB, van de Vijver K, Keymeulen K, van der Ent F, Yntema HG, Tjan-Heijnen VC, Boetes C - Case Rep Radiol (2012)

Contrast-enhanced (subtraction) MR images (a) and contrast-enhanced T1-weighted MR images (b) show a large, lobulated heterogeneously enhancing mass with irregular borders in the lower lateral quadrant of the right breast (arrows).
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3405564&req=5

fig3: Contrast-enhanced (subtraction) MR images (a) and contrast-enhanced T1-weighted MR images (b) show a large, lobulated heterogeneously enhancing mass with irregular borders in the lower lateral quadrant of the right breast (arrows).
Mentions: A 26-year-old woman was diagnosed with breast cancer from biopsy of an axillary lymph node. An ultrasound (Figure 1) followed by an MRI of the breasts (Figures 2 and 3) were subsequently performed.

Bottom Line: Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity.Fibrocystic disease of the breasts and multinodular goiter are minor criteria.Family history is also important for the diagnosis of (any) hereditary disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.

ABSTRACT
Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any) hereditary disease.

No MeSH data available.


Related in: MedlinePlus