P68 Risk of oral squamous cell carcinoma and other de novo tumours in Italian renal transplant recipients

The highly polymorphic melanocortin 1 receptor ( MC1R) gene plays a crucial role in pigmentation. Variants of the gene have been implicated in risk of cutaneous squamous cell carcinoma (SCC) in the general population. In renal transplant (RT) recipients these cancers are more aggressive and very common. To evaluate the risk of SCC relative to MC1R and the pigmentation-associated genes ASIP, TYR, and TYRP1, a group of 217 RT recipients with and without SCC was genotyped. Associations with SCC risk were indicated in carriers of the red hair color associated MC1R variant p.Arg151Cys (OR= 1.99; 1.05–-3.75), and in carriers of two of any of the MC1R variants disclosed (OR = 2.36; 1.08–5.15). These associations appeared independent of traditionally protective phenotypes, also supported by the stratifications from skin phototype and hair color. A tendency towards an increased SCC risk was observed for a specific ASIP haplotype (OR = 1.87; 0.91–3.83), while no such associations were observed for the TYR and TYRP1 variants. Thus, the risk of developing SCC in RT patients is modulated by MC1R variation irrespective of phenotypes considered to be protective. Heterozygous combinations of MC1R variants appear to be more relevant in assessing SCC risk than the effects of variants individually.

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Invasive fungal infections: A diagnostic challenge

Case Reports in Clinical Pathology ◽

10.5430/crcp.v4n2p15 ◽

2017 ◽

Vol 4 (2) ◽

pp. 15

Author(s):

Akshjot Puri ◽

Michael Chesser ◽

Thomas Lidner

Keyword(s):

Squamous Cell Carcinoma ◽

Renal Transplant ◽

Cell Carcinoma ◽

Squamous Cell ◽

Fungal Infections ◽

Invasive Fungal Infections ◽

Perineal Pain ◽

Solid Organ ◽

Renal Transplant Recipients ◽

Transplant Recipients

Introduction: Overall incidence of invasive fungal infections in solid organ transplant recipients is low with the more common infections being invasive candidiasis, aspergillosis and cryptococosis. Zygomycosis comprises of only 0.2%-1.2% of infections in renal transplant recipients with current recommendations advising against routine prophylaxis.Case: The patient was a 60-year-old male with a history of renal transplant 25 years ago on immunosuppressants, chronic transplant glomerulopathy, squamous cell carcinoma post penectomy and bilateral orchiectomy 2 years ago, controlled diabetes and hypertension who presented with pain in the perineal region for 4 days. On exam he was discovered to be afebrile and had a scrotal skin fold with urethral opening from his previous surgery and 2.5 cm induration and tenderness in the left gluteal fold. He was treated with 5 days of Unasyn. A biopsy was taken to rule out recurrence of squamous cell carcinoma and he was discharged home. The patient returned with worsening perineal pain within 3 days. On exam he had progressive induration with erythema, swelling and tenderness in the perineum. An initial white blood cell count of 15.8 increased to 25.8 and blood cultures remained negative. The computed tomography scan showed diffuse edema in the perineum without any evidence of abscesses. Immunosuppression was held and broad spectrum antibiotics were started. His renal failure progressively worsened eventually requiring continuous renal replacement therapy, intensive care transfer and vasopressor support. The biopsy revealed intermingled fibrous tissue with focal necrosis and no evidence of malignant cells. A repeat incision and debridement (I&D) culture showed growth consistent with mucor. He was started on liposomal amphotericin B and taken to the OR for multiple debridements. Unfortunately he progressed to multisystem organ failure and died after transitioning to comfort care.Conclusions: Invasive fungal infections remain one of the life threatening differentials for cellulitis like skin lesions, especially for patients not responding to antibiotics and those who are immunocompromised. Early cultures and histopathology of lesions should be done for diagnosis and to avoid delays in treatment.

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