The nutcracker black cat

The nutcracker black cat

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The nutcracker black cat syndrome was first described in the 1940s[@b1]. The syndrome was coined to describe a series of clinical and radiographic manifestations in cats including anorexia, progressive weight loss, progressive abdominal distention and signs of a pnful, rapidly growing mass in the distal aspect of the small intestine. It can be diagnosed in cases where the cat demonstrates all of these clinical signs and signs of intestinal obstruction and a neoplastic mass of the ileum is visualised radiographically[@b2][@b3]. Clinicians may erroneously assume that the cat's abdominal mass is due to the accumulation of gas within the intestines and a palpable abdominal mass is often not detected. Therefore, the syndrome is rarely diagnosed until intestinal obstruction, sepsis and other complications supervene[@b4].

Because the prognosis of cats with the syndrome is considered very poor, treatment protocols have primarily involved cytoreduction by partial or total intestinal resection[@b3][@b5]. The syndrome is now referred to as intestinal obstructive neoplasia[@b2] and typically occurs in older animals in which cancer has spread to the peri-intestinal lymph nodes. Other common causes of an abdominal mass in cats include neoplasia, peritonitis and intestinal intussusception[@b6][@b7]. The underlying cause of the syndrome is often attributed to a mucinous tumour, however, it is not always possible to confidently determine a definitive histological diagnosis. Additionally, intestinal obstruction and progressive weight loss are often the presenting signs and therefore clinicians are reluctant to diagnose this syndrome based on clinical observations alone.

The aetiology of the syndrome is not completely understood. It has been suggested that the cause is multifactorial and is related to both intestinal and genetic predisposition[@b8]. The development of this syndrome has been associated with a decrease in certn genes related to the regulation of apoptosis. For example, the role of TGF-β superfamily, NF-κB and Smad pathways in the neoplasia of the intestine[@b9], while the role of *p53*, *Mdm2*, *B-cell CLL/lymphoma 2* and β-catenin in colorectal tumourigenesis is well documented[@b10][@b11]. While this syndrome is considered a cancer, the clinical presentation of the syndrome in our patient did not support a diagnosis of colorectal tumourigenesis. The most common histological findings are reported as submucosal infiltrates of neoplastic lymphoid cells that are characteristically associated with the mucosa and submucosa[@b4]. This is in contrast to the normal crypt epithelium, which consists of a columnar proliferating epithelium and goblet cells. However, the presence of lymphoid infiltrates in the submucosal layers alone does not necessarily indicate lymphoma. In a report on the morphology of intussusception caused by colonic lymphoma, there was no increase in the number of lymphoid cells in the submucosa but only an increase in the number of small lymphocytes in the lamina propria[@b4].

Lymphomatous enteropathy has been described as part of the clinical spectrum of the syndrome in patients with the *PRF1* mutation[@b4], where the majority of the patients developed colitis (80% of cases) and intestinal tumours were also observed (80% of cases). This has been suggested to be secondary to abnormal innate immunity due to defective *PRF1* signalling. While this is not a recognised subtype of the GATA2 syndrome, the findings in this patient do not support this association. The diagnosis of T-cell lymphoma in GATA2 deficiency requires the co-occurrence of other clinical manifestations. In this case, the diagnosis was established when the patient was being screened for thrombotic risk. Subsequently, at the time of this publication, there have been no further events to suggest a relapse or recurrence.

The exact aetiology and pathogenesis of the T-cell lymphoma remns unclear. Thrombocytosis has been reported in patients with *GATA2* mutations[@b1] as well as other myeloid neoplasia[@b5][@b6]. This association suggests that a common predisposition towards hematopoietic neoplasia may occur with GATA2 deficiency. Recently, a report has indicated that *GATA2* mutations may be associated with a predisposition towards lymphomagenesis in mice[@b7]. It remns to be determined whether this predisposition may extend to humans with GATA2 deficiency.

In conclusion, the GATA2 mutation may have implications for the diagnosis of inherited predispositions for T-cell lymphoma. Further studies into the underlying biology and pathogenesis of lymphoma are necessary to fully delineate the risks associated with GATA2 mutations.

The authors declare no conflict of interest.

Watch the video: The Nutcracker by Kodi the Cat (August 2022).