AML in Mayer-Rokitansky-Küster-Hauser Syndrome

Case Report

Ann Hematol Oncol. 2019; 6(3): 1239.

AML in Mayer-Rokitansky-Küster-Hauser Syndrome

Al-Rabi K¹*, Obeidat A¹ and Alsmadi O²

¹Department of Medical Oncology, King Hussein Cancer Center, Jordan

²Department of Cell Therapy and Applied Genomics, King Hussein Cancer Center, Jordan

*Corresponding author: Kamal Al-Rabi, Department of Medical Oncology, King Hussein Cancer Center, Amman, Jordan

Received: December 28, 2018; Accepted: February 12, 2019;Published: February 19, 2019


The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second most common cause of primary amenorrhea, it is characterized by congenital hypoplasia of the uterus and the upper part of the vagina. The incidence of MRKH syndrome has been estimated as 1 in 4500 women [1]. Most of the studies suggest that MRKH syndrome has been considered as a genetic disease, and genes such as the HOXA7, HOXA9-13, HOXD9-13, and WNT4 have been considered as possible offenders [2].

Malignancies of ovaries, uterus and renal were reported in association with this syndrome [3-5]. Here we are reporting the first case of MRKHS associated with AML in literature.

Keywords: Mayer-Rokitansky-Küster-Hauser syndrome; AML


Mayer-Rokitansky-Kuster-Hauser syndrome is characterized by congenital aplasia of the uterus and the upper two thirds of the vagina in women showing normal developmental of secondary sexual characteristics, normal ovarian function and normal 46, XX karyotype [1]. Type one is the isolated form [6]. The second one (type II) is an atypical syndrome, with the presence of asymmetric uterine remnants and abnormal uterine tubes. Such syndrome type may be associated with ovarian disease, congenital renal, bone abnormalities and hearing defects. A third one, the so called MURCS type, involves uterovaginal hypoplasia or aplasia, renal, bone and cardiac malformations [1,7]. The extent of vaginal aplasia varies, ranging from virtually absent to virtually inconsequential. MRKH syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal female sexual development. MRKH syndrome is the second most common cause of primary amenorrhea [1].

Cases of ovarian, uterine and renal cell carcinoma were reported in association with MRKH [3-5]. However, MRKH has never been previously described to be associated with AML. Here we are presenting a case of 21 year old Caucasian female with MRKH syndrome found to have AML- M2 with t (6;9).

Case Report

A 21-year-old single female presented to King Hussein cancer center after being diagnosed with Acute Myeloid Leukemia outside the center, she was accidently found to be anemic during routine blood work to investigate sparse scalp hair, otherwise she was asymptomatic. Complete blood count showed thrombocytopenia, platelets of 89,000/μl and anemia Hgb of 8.5g/dl, WBC 11.9×10 /μl,. Blood film revealed numerous blasts in peripheral blood with giant platelets, kidney function, liver function and coagulation tests were all within normal range. In the light of these results bone marrow biopsy was done and showedhypercellular for age. The estimate M:E ratio is 8:1. Infiltration of bone marrow with 26% blasts (Figure 1). Flowcytmetry showed myeloblasts which expresses CD34, CD 117, CD33, CD13, CD38, CD58, HLA-DR and cMPO.