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2017 ; 12
(1
): 79
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Sclerosing angiomatoid nodular transformation of the spleen in a patient with
Maffucci syndrome: a case report and review of literature
#MMPMID29126417
Huang XD
; Jiao HS
; Yang Z
; Chen CQ
; He YL
; Zhang XH
Diagn Pathol
2017[Nov]; 12
(1
): 79
PMID29126417
show ga
BACKGROUND: Maffucci syndrome is a congenital, non-hereditary mesodermal
dysplasia characterized by multiple enchondromas and hemangiomas. The presence of
visceral vascular lesions in this syndrome is exceedingly rare. CASE
PRESENTATION: We report a 26-year-old female who was diagnosed with Maffucci
syndrome along with sclerosing angiomatoid nodular transformation (SANT) of the
spleen. The patient underwent a laparoscopic splenectomy. Immunostaining of the
excised specimen revealed 3 distinct types of vessels in the angiomatoid nodules:
CD34-/CD8-/CD31+ small veins, CD34-/CD8+/CD31+ sinusoids, and CD34+/CD8-/CD31+
capillaries, leading to the diagnosis of SANT of the spleen. CONCLUSIONS: This
case reports the first patient in the literature exhibiting the features of
Maffucci syndrome along with SANT of the spleen. The spleen is probably a
predilection site of visceral vascular lesions in this syndrome with a proportion
of 4 out of 14. An abdominal Computed Tomography (CT) scan is recommended for any
cases of abdominal discomfort. Surgical excision is usually sufficient because of
the relatively benign behavior of SANT, however, a more aggressive follow-up is
proposed due to the high risk of malignant transformation of enchondromas and
development of other neoplasms associated with this syndrome. Further studies are
required to reveal its genetic basis for comprehensive prognosis evaluation and
therapeutic guidance.