Primary squamous cell carcinoma (SqCC) of the breast is a rare tumor that presents a unique biologic behavior. Thus, it challenges the justification for routine axillary dissection and adjuvant therapy. A MEDLINE search of all reported cases of primary SqCC of the breast was performed. Data on lymph node status, estrogen receptor (ER) and progesterone receptor (PR) status, and surgical and adjuvant treatment modalities were collected. We add three cases from our own experience. SqCC has several unique biologic characteristics; it is associated with a lower rate of lymph node metastasis at presentation (22% vs. 40-60% for infiltrating ductal carcinoma [IDC]) and a significant rate of distant metastasis without lymph node involvement. ER and PR receptor levels are usually very low. Because lymph node involvement plays a lesser prognostic and therapeutic role in this disease, we propose a more selective approach (i.e., sentinel node biopsy). The issue of adjuvant treatment remains unresolved, owing to lack of data. Surgical and medical treatment of SqCC of the breast should be tailored to fit its distinct biologic characteristics. The 5-fluorouracil-doxorubicin-cisplatin combination may be warranted in lieu of the combinations used for IDC.

Congenital disorders of glycosylation are a growing group of inborn errors of protein glycosylation. Cardiac involvement is frequently observed in the most common form, PMM2-CDG, especially hypertrophic cardiomyopathy. Dilated cardiomyopathy, however, has been only observed in a few CDG subtypes, usually with a lethal outcome. We report on cardiac pathology in nine patients from three unrelated Israeli families, diagnosed with dolichol kinase deficiency, due to novel, homozygous DK1 gene mutations. The cardiac symptoms varied from discrete, mild dilation to overt heart failure with death. Two children died unexpectedly with acute symptoms of heart failure before the diagnosis of DK1-CDG and heart transplantation could take place. Three other affected children with mild dilated cardiomyopathy at the time of the diagnosis deteriorated rapidly, two of them within days after an acute infection. They all went through successful heart transplantation; one died unexpectedly and 2 others are currently (after 1–5 years) clinically stable. The other 4 children diagnosed with mild dilated cardiomyopathy are doing well on supportive heart failure therapy. In most cases, the cardiac findings dominated the clinical picture, without central nervous system or multisystem involvement, which is unique in CDG syndrome. We suggest to test for DK1-CDG in patients with dilated cardiomyopathy. Patients with discrete cardiomyopathy may remain stable on supportive treatment while others deteriorate rapidly. Our paper is the first comprehensive study on the phenotype of DK1-CDG and the first successful organ transplantation in CDG syndrome.

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Hypothesis: Clinical and pathological variables may be predictors of axillary dissemination in T1mic and T1a breast carcinoma. Design: Retrospective medical chart review. Setting: University-affiliated tertiary referral center. Patients: All patients diagnosed as having ductal carcinoma in situ (DCIS) with microinvasion between Janu