Six cases of gynecomastia with pseudoangiomatous stromal hyperplasia (PASH) and multinucleated stromal giant cells (MSGC) associated with neurofibromatosis type 1 (NF1) have been reported, and finding MSGC within PASH in gynecomastia has been suggested as being a characteristic of NF1. The frequency of PASH with MSGC in gynecomastia and its specificity for NF1 have not, however, been systematically studied. A total of 337 gynecomastia specimens from 215 patients, aged from 8 to 78 years (median, 22 years) were reevaluated for the presence of PASH with MSGC. Breast tissue samples of 25 patients were analyzed for the presence of an NF1 gene mutation using next generation sequencing. Rare MSGC, usually in the background of PASH, were noted at least unilaterally in 27 (13 %) patients; and prominent MSGC, always in the background of PASH, were noted in 8 (4 %) patients. The NF1 gene was mutated in only 1 (an 8-year-old boy with known NF1 and prominent MSGC) of the 25 tested patients, including 6 patients with prominent MSGC and 19 patients with rare MSGC. MSGC, usually in the background of PASH, are not characteristic of NF1.

Pseudoangiomatous stromal hyperplasia with multinucleated stromal giant cells is neither exceptional in gynecomastia nor characteristic of neurofibromatosis type 1.

Dear Editor: Pseudoangiomatous stromal hyperplasia (PASH) and stromal multinucleated giant cells (MGC) can occur in both female and male breast (1-5). In males, simultaneous occurrence of PASH and MGC in gynecomastia was described in patients with neurofibromatosis type 1 (NF-1) (6-8). However, the specificity of this finding for NF-1 still remains unclear because the number of described cases is limited. In male patients without NF-1, PASH with MGC in gynecomastia was not reported, to my knowledge. Here, I would like to describe one such case briefly. A 22-year-old male presented with two years slowly growing unilateral gynecomastia of the right breast. Otherwise, his medical history was unremarkable. The lesion was excised and

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Gynecomastia with pseudoangiomatous hyperplasia and multinucleated giant cells in a patient without neurofibromatosis.

A simultaneous finding of pseudoangiomatous stromal hyperplasia (PASH) and stromal multinucleated giant cells (MGC) in mammary tissue was previously observed in patients with type-1 neurofibromatosis, indicating that it can represent a morphologic marker for this syndrome. Here, we present PASH with MGC occurring in the left breast of a 39-years-old woman who does not have neurofibromatosis. This case, along with two additional ones reported previously, indicates that PASH with MGC in the female breast may not be associated with neurofibromatosis.

V Dubac

Papers

Pseudoangiomatous stromal hyperplasia with giant cells in the female breast. No association with neurofibromatosis