Sabato 27 ottobre 2012 - Pacini Editore

322
ian cancer due to the important role of this protein in DNA repair
mechanisms.
In this paper, we have not inspected which of the known APE1
function is associated with NPM1 overexpression even though it
is plausible that both BER and rRNA activities may be affected
thus impacting on cell proliferation and cell survival. Work along
these lines is currently ongoing in our laboratory.
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neonatal hemochromatosis: a case report
P. Pretelli, F. Castiglione, D. Moncini, A.M. Buccoliero, E. Projetto,
I. Montagnani, L. Messerini, G.L. Taddei
Università di Firenze Dipartimento di Area Critica Medico-Chirurgica.
Sezione di Anatomia Patologica
Neonatal hemochromatosis is a rare clinical pathologic entity,
defined by severe neonatal liver failure of intrauterine onset
associated with intra-and extra- hepatic siderosis that spares
reticuloendothelial system. It is the most frequently recognized
cause of liver failure in neonates. The cause is unknown but it
may develop secondary to abnormal fetoplacental iron handling
or perinatal liver disease or be familial or as a consequence of
gestational alloimmune disease. It’s a syndrome with a common
feature rather than a single pathologic entity, with maternal
transmission and a high recurrence in the sib ship. Death from
multisystem organ failure usually occurs in the first few days or
weeks of life.
A case of neonatal hemochromatosis in a 1-hour-old female
is described. She presented with hypotonia, mild jaundice,
and respiratory difficulty immediately after birth. She had no
evidence of congenital infection, immune-related hemolysis
or exogenous iron uptake. Postmortem examination revealed
abnormal facial features. The organs were of normal weight for
his age except a small liver and lungs, and a large spleen. The
most prominent changes were in the liver and pancreas. The
liver was coarsely nodular and fibrotic. The lobular architecture
was totally distorted by innumerable multinucleated giant cells,
loss or collapse of the hepatocytes, and diffuse fibrosis. A large
amount of hemosiderin was seen in the liver, pancreatic acini
and thyroid follicular cells. Scanty amount of hemosiderin was
also found in the myocardial fibers and renal tubular cells. The
pancreas showed hyperplasia and hypertrophy of the islets. The
spleen showed severe congestion and a moderate extramedullary
hemopoiesis but no deposits of hemosiderin. This patient
had three siblings died in neonatal period, one of which had
clinical features of neonatal hemochromatosis.
The diagnosis is suspected in the presence of severely impaired
CONGRESSO aNNualE di aNatOmia patOlOGiCa SiapEC – iap • fiRENzE, 25-27 OttOBRE 2012
hepatic synthetic function accompanied by high serum ferritin
levels, but is confirmed only by demonstration of increased hepatic
iron stores, and extra-hepatic siderosis shown by autopsy or
in vivo, which can be achieved by biopsy of the minor salivary
glands or magnetic resonance imaging. Neonatal hemochromatosis
is the most common specific indication for liver transplantation
in the first three months of life and appears to be the
treatment of choice, and must as well be considered as soon as
it becomes apparent that medical support, which should include
chelation-antioxidant treatment, is ineffective, before irreversible
neurological complications appear.
Testicular hemangioendothelioma: a case report
G. Crisman1 , L. Melchiorri1 , V. Ciuffetelli2 , A. Chiominto2 ,
G. Coletti2 , P. Leocata1 1 Anatomia Patologica, Dipartimento di Scienze della Salute, Università
dell’Aquila, L’Aquila, Italia; 2 U.O.C. Anatomia Patologica, Ospedale Civile
“San Salvatore”, L’Aquila, Italia
Background. Hemangioendothelioma is a rare vascular tumor
characterized by a proliferation of endothelial cells. It is a borderline
neoplasm, which can occur in every organ and tissue,
even though the liver and the skin represent the most common
site of involvement. Testis represents a very rare site of onset of
this kind of lesion.
Material and methods. We report on a case of a 50-years-old
man presented at the Urological Department of Avezzano General
Hospital with a solid, painless mass of the right testis, causing
a scrotal oedema. The patient denied any history of previous
trauma, orchiepydidimitis, varicocele, urological surgery and referred
a few-day history of testicular discomfort. Physical examination
revealed an enlarged right testis with a prominent mass,
hard in consistency. The left testicle was within normal limits.
US examination revealed a hypervascularized, well-defined mass
of the right testis and a grade 1 varicocele. Any morphological
alteration of the left testicle has been detected.
Results. The patient underwent a orhiectomy and sections of
the surgical specimen revealed the presence of a rounded, firm,
well-circumscribed whitish mass of 1,3 cm in-diameter. The
remainder of testis, cord and epiddymis were otherwise normal.
Histological features of the mass revealed a vascular tumor
mainly composed by plump endothelial cells arranged in short
strands, cords, or small clusters of epithelioid, round, to slightly
spindled endothelial cells that formed at least focally, intracellular
lumina. The endothelial nuclei appeared larger but not
hyperchromatic. The lesion strongly stained for CD31, CD34,
Inhibin, Calretinin and D2-40. Thus, a diagnosis of hemangioendothelioma
was posed.
Conclusions. The authors underline the importance of achieving
the correct diagnosis in such challenging cases, since only
few reports of testicular emangioendothelioma have been reported
so far.
Fig. 1 a and B. Histological features: clusters of epithelioid, round, to
slightly spindled endothelial cells that formed at least focally, intracellular
lumina, represent the main component of this lesion (H&E, 4x
magnification, 20x magnification).